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Research > Chapter 11031

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Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)

Mutations in the NS3 gene and 3'-NCR of Japanese encephalitis virus isolated from an unconventional ecosystem and implications for natural attenuation of the virus

Mutations in the NS5A gene predict response to interferon therapy in Japanese patients with chronic hepatitis C and cirrhosis

Mutations in the NS5A region do not predict interferon-responsiveness in American patients infected with genotype 1b hepatitis C virus

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

Mutations in the Na-Cl cotransporter reduce blood pressure in humans

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

Mutations in the P. falciparum digestive vacuole transmembrane protein PfCRT and evidence for their role in chloroquine resistance

Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation

Mutations in the PILZ group genes disrupt the microtubule cytoskeleton and uncouple cell cycle progression from cell division in Arabidopsis embryo and endosperm

Mutations in the PPPY motif of vesicular stomatitis virus matrix protein reduce virus budding by inhibiting a late step in virion release

Mutations in the Pho2 (Bas2) transcription factor that differentially affect activation with its partner proteins Bas1, Pho4, and Swi5

Mutations in the Plk gene lead to instability of Plk protein in human tumour cell lines

Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma

Mutations in the RAD54 recombination gene in primary cancers

Mutations in the RING domain of TFB3, a subunit of yeast transcription factor IIH, reveal a role in cell cycle progression

Mutations in the RNA binding domain of stem-loop binding protein define separable requirements for RNA binding and for histone pre-mRNA processing

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

Mutations in the RNase H domain of HIV-1 reverse transcriptase affect the initiation of DNA synthesis and the specificity of RNase H cleavage in vivo

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

Mutations in the RPGR gene cause X-linked cone dystrophy

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Mutations in the RYR1 gene in Italian patients at risk for Malignant Hyperthermia: Evidence for a cluster of novel mutations in the C-terminal region

Mutations in the Rho transcription termination factor that affect RNA tracking

Mutations in the Rho1 small GTPase disrupt morphogenesis and segmentation during early Drosophila development

Mutations in the S1 subunit of pertussis toxin that affect secretion

Mutations in the S4 domain of a pacemaker channel alter its voltage dependence

Mutations in the S4 region isolate the final voltage-dependent cooperative step in potassium channel activation

Mutations in the S4-H2 loop of eIF4E which increase the affinity for m7GTP

Mutations in the SAM domain of STE50 differentially influence the MAPK-mediated pathways for mating, filamentous growth and osmotolerance in Saccharomyces cerevisiae

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients

Mutations in the ST7/RAY1/HELG locus rarely occur in primary colorectal, gastric, and hepatocellular carcinomas

Mutations in the STK11 gene characterize minimal deviation adenocarcinoma of the uterine cervix

Mutations in the SURF1 gene associated with Leigh Syndrome and cytochrome c oxidase deficiency

Mutations in the Saccharomyces cerevisiae gene SAC1 cause multiple drug sensitivity

Mutations in the Schizosaccharomyces pombe heat shock factor that differentially affect responses to heat and cadmium stress

Mutations in the TAR hairpin affect the equilibrium between alternative conformations of the HIV-1 leader RNA

Mutations in the TATA-binding protein, affecting transcriptional activation, show synthetic lethality with the TAF145 gene lacking the TAF N-terminal domain in Saccharomyces cerevisiae

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Mutations in the TP53 gene in human malignant melanomas derived from sun-exposed skin and unexposed mucosal membranes

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis

Mutations in the UL97 ORF of ganciclovir-resistant clinical cytomegalovirus isolates differentially affect GCV phosphorylation as determined in a recombinant vaccinia virus system

Mutations in the VHL gene from potassium bromate-induced rat clear cell renal tumors

Mutations in the VHL gene in sporadic apparently congenital polycythemia

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

Mutations in the WRN gene in mice accelerate mortality in a p53-null background

Mutations in the WUSCHEL gene of Arabidopsis thaliana result in the development of shoots without juvenile leaves

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

Mutations in the X region and core promoter are rare and have little impact on response to interferon therapy for chronic hepatitis B

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype-phenotype correlation

Mutations in the YRB1 gene encoding yeast Ran-binding-protein-1 that impair nucleocytoplasmic transport and suppress yeast mating defects

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

Mutations in the acetolactate synthase genes of sulfonylurea-resistant biotypes of Lindernia spp

Mutations in the activation loop tyrosine of the oncoprotein v-Fps

Mutations in the active site of penicillin-binding protein PBP2x from Streptococcus pneumoniae: Role in the specificity for beta-lactam antibiotics

Mutations in the adiponectin gene in lean and obese subjects from the Swedish Obese Subjects cohort

Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus)

Mutations in the alpha-synuclein gene in Parkinson's disease among Indians

Mutations in the alpha-tubulin 67C gene specifically impair achiasmate segregation in Drosophila melanogaster

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

Mutations in the ampC promoter of Escherichia coli isolates resistant to oxyiminocephalosporins without extended spectrum beta-lactamase production

Mutations in the aph(2)-Ic gene are responsible for increased levels of aminoglycoside resistance

Mutations in the apolipoprotein (apo) B-100 receptor-binding region: Detection of apo B-100 (Arg3500fwdarwTrp) associated with two new haplotypes and evidence that apo B-100 (Glu3405fwdarwGln) diminishes receptor-mediated uptake of LDL

Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex

Mutations in the basal core promoter and precore/core gene of hepatitis B virus in patients with chronic active but not acute hepatitis B

Mutations in the basic core promotor and the precore region of hepatitis B virus and their selection in children with fulminant and chronic hepatitis B

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome

Mutations in the beginning of the rpoB gene can induce resistance to rifamycins in both Helicobacter pylori and Mycobacterium tuberculosis

Mutations in the beta subunit of the Bacillus subtilis RNA polymerase that confer both rifampicin resistance and hypersensitivity to NusG

Mutations in the beta-propeller domain of the Drosophila brain tumor (brat) protein induce neoplasm in the larval brain

Mutations in the beta-subunit Thr159 and Glu184 of the Rhodospirillum rubrum F0F1 ATP synthase reveal differences in ligands for the coupled Mg2+- and decoupled Ca2+-dependent F0F1 activities

Mutations in the candidate tumour suppressor gene FLJ12973 on chromosome 15q15 are rare in colorectal cancer

Mutations in the carboxyl-terminal domain of phospholipase C-beta1 delineate the dimer interface and a potential Galphaq interaction site

Mutations in the carboxyl-terminal domain of the small hepatitis B virus envelope protein impair the assembly of hepatitis delta virus particles

Mutations in the carcinoembryonic antigen gene in colorectal cancer patients: Implications on liver metastasis

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

Mutations in the catalytic domain of prohormone convertase 2 result in decreased binding to 7B2 and loss of inhibition with 7B2 C-terminal peptide

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

Mutations in the caveolin-3 gene: When are they pathogenic?

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype

Mutations in the coat protein gene of Plum pox virus suppress particle assembly, heterologous encapsidation and complementation in transgenic plants of Nicotiana benthamiana

Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

Mutations in the conserved P loop perturb the conformation of two structural elements in the peptidyl transferase center of 23 S ribosomal RNA

Mutations in the conserved carboxy-terminal hydrophobic region of glycoprotein gB affect infectivity of herpes simplex virus

Mutations in the conserved woodchuck hepatitis virus polymerase FLLA and YMDD regions conferring resistance to lamivudine

Mutations in the csgD promoter associated with variations in curli expression in certain strains of Escherichia coli O157:H7

Mutations in the cytochrome b gene of Plasmodium berghei conferring resistance to atovaquone

Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination

Mutations in the cytoplasmic domain of a paramyxovirus fusion glycoprotein rescue syncytium formation and eliminate the hemagglutinin-neuraminidase protein requirement for membrane fusion

Mutations in the cytoplasmic tail of murine leukemia virus envelope protein suppress fusion inhibition by R peptide

Mutations in the cytosolic DnaJ homologue, YDJ1, delay and compromise the efficient translation of heterologous proteins in yeast

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: Correlation between sulfate transport activity and chondrodysplasia phenotype

Mutations in the dihydropteroate synthase gene of human-derived Pneumocystis carinii isolates from Italy are infrequent but correlate with prior sulfa prophylaxis

Mutations in the docking site for cytochrome c on the Paracoccus heme aa3 oxidase. Electron entry and kinetic phases of the reaction

Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency

Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy

Mutations in the dystrophin-like dys-1 gene of Caenorhabditis elegans result in reduced acetylcholinesterase activity

Mutations in the embB locus among Korean clinical isolates of Mycobacterium tuberculosis resistant to ethambutol

Mutations in the env gene of human immunodeficiency virus type 1 NDK isolates and the use of African green monkey CXCR4 as a co-receptor in COS-7 cells

Mutations in the environment of the primary quinone facilitate proton delivery to the secondary quinone in bacterial photosynthetic reaction centers

Mutations in the epithelial Na+ channel ENaC outer pore disrupt amiloride block by increasing its dissociation rate

Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families

Mutations in the essential spindle checkpoint gene bub1 cause chromosome missegregation and fail to block apoptosis in Drosophila

Mutations in the estrogen receptor DNA-binding domain discriminate between the classical mechanism of action and cross-talk with Stat5b and activating protein 1 (AP-1)

Mutations in the estrogen receptor ligand binding domain discriminate between hormone-dependent transactivation and transrepression

Mutations in the exocyst component Sec5 disrupt neuronal membrane traffic, but neurotransmitter release persists

Mutations in the exon 9 of FGFR 2 gene in Crouzon syndrome

Mutations in the exons and exon-intron junction regions of human cytochrome P-4502E1 gene and alcoholism

Mutations in the extracellular amino-terminal domain of the NK2 neurokinin receptor abolish cAMP signaling but preserve intracellular calcium responses

Mutations in the extracellular domain and in the membrane-spanning domains interfere with nicotinic acetylcholine receptor maturation

Mutations in the extracellular protein secretion pathway genes (eps) interfere with rugose polysaccharide production in and motility of Vibrio cholerae

Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations

Mutations in the fatty acid elongation 1 gene are associated with a loss of beta-ketoacyl-CoA synthase activity in low erucic acid rapeseed

Mutations in the fibrinogen Aalpha gene account for the majority of cases of congenital afibrinogenemia

Mutations in the follicle-stimulating hormone receptor and familial dizygotic twinning

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

Mutations in the fusion peptide and adjacent heptad repeat inhibit folding or activity of the newcastle disease virus fusion protein

Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

Mutations in the gene encoding 3beta-hydroxysteroid-DELTA8,DELTA7-isomerase cause X-linked dominant Conradi-Hunermann syndrome

Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

Mutations in the gene encoding SLURP-1 in Mal de Meleda

Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

Mutations in the gene encoding for cardiac beta-myosin heavy chain in Chinese families with hypertrophic cardiomyopathy

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Hueet anomaly)

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

Mutations in the gene encoding the transcription factor CCAAT/enhancer binding protein alpha in myelodysplastic syndromes and acute myeloid leukemias

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30

Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia

Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency

Mutations in the gene for toll-like receptor 4 and multiple sclerosis

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

Mutations in the genes for synthesis of the outer core region of the lipopolysaccharide of Yersinia enterocolitica O:3

Mutations in the genes regulating methylene tetrahydrofolate reductase (MTHFR CfwdarwT677) and cystathione beta-synthase (CBS GfwdarwA919, CBS TfwdarwC833) are not associated with myocardial infarction in African Americans

Mutations in the gerP locus of Bacillus subtilis and Bacillus cereus affect access of germinants to their targets in spores

Mutations in the glucocorticoid receptor DNA-binding domain mimic an allosteric effect of DNA

Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c

Mutations in the glycoprotein of viral haemorrhagic septicaemia virus that affect virulence for fish and the pH threshold for membrane fusion

Mutations in the gravity persistence signal loci in Arabidopsis disrupt the perception and/or signal transduction of gravitropic stimuli

Mutations in the growth hormone releasing hormone receptor: A new form of dwarfism in humans

Mutations in the gyrA, parC, and parE genes associated with fluoroquinolone resistance in clinical isolates of Mycoplasma hominis

Mutations in the heatshock cognate 70 protein (hsc4) modulate Notch signaling

Mutations in the helix 3 region of the androgen receptor abrogate ARA70 promotion of 17beta-estradiol-induced androgen receptor transactivation

Mutations in the hemochromatosis gene (HFE) and stroke

Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism

Mutations in the hemochromatosis gene HFE: Diagnostic use and clinical relevance in liver diseases

Mutations in the heparin binding domain of fibronectin in cooperation with the V region induce decreases in pp125FAK levels plus proteoglycan-mediated apoptosis via caspases

Mutations in the hepatitis B virus preS2 region and abrogated receptor activity for polymerized human albumin

Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having type I diabetes

Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: Prevalence and functional analysis

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

Mutations in the hepatocyte nuclear factor-4alpha gene in Japanese with non-insulin-dependent diabetes: A nucleotide substitution in the polypyrimidine tract of intron 1b

Mutations in the highly conserved GGQ motif of class 1 polypeptide release factors abolish ability of human eRF1 to trigger peptidyl-tRNA hydrolysis

Mutations in the hinge of a dynamic loop broadly influence functional properties of fructose-1,6-bisphosphatase

Mutations in the histone fold domain of the TAF12 gene show synthetic lethality with the TAF1 gene lacking the TAF N-terminal domain (TAND) by different mechanisms from those in the SPT15 gene encoding the TATA box-binding protein (TBP)

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Mutations in the house fly Vssc1 sodium channel gene associated with super-kdr resistance abolish the pyrethroid sensitivity of Vssc1/tipE sodium channels expressed in Xenopus oocytes

Mutations in the huge Arabidopsis gene BIG affect a range of hormone and light responses

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in Sitosterolemia

Mutations in the human DHCR7 gene

Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters

Mutations in the human TWIST gene

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: Functional and pathological consequences

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Mutations in the human homologue of the Drosophila segment polarity gene patched in oral squamous cell carcinoma cell lines

Mutations in the human immunodeficiency virus type 1 reverse transcriptase gene observed in stavudine and didanosine strains obtained by in vitro passages

Mutations in the human leptin and leptin receptor genes as models of serum leptin receptor regulation

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

Mutations in the human paraoxonase 1 gene: Frequencies, allelic linkages, and association with coronary artery disease

Mutations in the human rhodopsin gene and polymorphisms in peripherin/RDS gene in Lithuanian autosomal dominant retinitis pigmentosa patients

Mutations in the human sterol DELTA7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome

Mutations in the immunoglobulin-like domain of gp190, the leukemia inhibitory factor (LIF) receptor, increase or decrease its affinity for LIF

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus

Mutations in the interdomain linker region of DnaK abolish the chaperone action of the DnaK/DnaJ/GrpE system

Mutations in the interdomain loop region of the tetA(A) tetracycline resistance gene increase efflux of minocycline and glycylcyclines

Mutations in the interglobular domain of aggrecan alter matrix metalloproteinase and aggrecanase cleavage patterns. Evidence that matrix metalloproteinase cleavage interferes with aggrecanase activity

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria

Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy

Mutations in the large subunit of U2AF disrupt pre-mRNA splicing, cell cycle progression and nuclear structure

Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein

Mutations in the linker domain of NBD2 of SUR inhibit transduction but not nucleotide binding

Mutations in the lipid-binding domain of alpha-synuclein confer overlapping, yet distinct, functional properties in the regulation of dopamine transporter activity

Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan

Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men: The Copenhagen City heart study

Mutations in the listerial proB gene leading to proline overproduction: Effects on salt tolerance and murine infection

Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia

Mutations in the lspA1 and lspA2 genes of Haemophilus ducreyi affect the virulence of this pathogen in an animal model system

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI

Mutations in the measles virus C protein that up regulate viral RNA synthesis

Mutations in the met oncogene unveil a dual switch mechanism controlling tyrosine kinase activity

Mutations in the midway gene disrupt a Drosophila acyl coenzyme A: Diacylglycerol acyltransferase

Mutations in the mitochondrial DNA D-Loop region occur frequently in adenocarcinoma in Barrett's esophagus

Mutations in the mitotic check point gene, MAD1L1, in human cancers

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH

Mutations in the molybdenum cofactor biosynthetic protein Cnx1G from Arabidopsis thaliana define functions for molybdopterin binding, molybdenum insertion, and molybdenum cofactor stabilization

Mutations in the motor domain modulate myosin activity and myofibril organization

Mutations in the mouse TSH receptor equivalent to human constitutively activating TSH receptor mutations also cause constitutive activity

Mutations in the murine erythroid alpha-spectrin gene alter spectrin mRNA and protein levels and spectrin incorporation into the red blood cell membrane skeleton

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease

Mutations in the newcastle disease virus hemagglutinin-neuraminidase protein that interfere with its ability to interact with the homologous F protein in the promotion of fusion

Mutations in the nomad retroelement are modifiers of position-effect variegation in Drosophila melanogaster

Mutations in the non-nucleoside binding-pocket interfere with the multi-nucleoside resistance phenotype

Mutations in the novel membrane protein spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Mutations in the nucleotide binding domain 1 signature motif region rescue processing and functional defects of cystic fibrosis transmembrane conductance regulator DELTAF508

Mutations in the occQ operator that decrease OccR-induced DNA bending do not cause constitutive promoter activity

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

Mutations in the p53 and scid genes do not cooperate in lymphomagenesis in doubly heterozygous mice

Mutations in the p53 homolog p63: Allele-specific developmental syndromes in humans

Mutations in the p53 tumor suppressor gene in colorectal cancer in Taiwan

Mutations in the p53 tumor suppressor gene in tree shrew hepatocellular carcinoma associated with hepatitis B virus infection and intake of aflatoxin B1

Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

Mutations in the pore regions of the yeast K+ channel YKC1 affect gating by extracellular K+

Mutations in the potyvirus helper component protein: Effects on interactions with virions and aphid stylets

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa

Mutations in the predicted aspartyl tRNA synthetase of Drosophila are lethal and function as dosage-sensitive maternal modifiers of the sex determination gene Sex-lethal

Mutations in the preproghrelin/ghrelin gene associated with obesity in humans

Mutations in the primer grip region of HIV reverse transcriptase can increase replication fidelity

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency

Mutations in the promoter reveal a cause for the reduced expression of the human manganese superoxide dismutase gene in cancer cells

Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex

Mutations in the protein kinase-binding domain of the NS5A protein in patients infected with hepatitis C virus type 1a are associated with treatment response

Mutations in the putative H-channel in the cytochrome c oxidase from Rhodobacter sphaeroides show that this channel is not important for proton conduction but reveal modulation of the properties of heme a

Mutations in the putative HR-C region of the measles virus F2 glycoprotein modulate syncytium formation

Mutations in the putative pore-forming segment favor short-lived wild-type Kir2.1 pore conformations

Mutations in the rat myelin basic protein gene are associated with specific alterations in other myelin gene expression

Mutations in the reduced-folate carrier affect protein localization and stability

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Mutations in the regulatory domain of cystathionine beta-synthase can functionally suppress patient-derived mutations in cis

Mutations in the regulatory gene hrpG of Xanthomonas campestris pv. vesicatoria result in constitutive expression of all hrp genes

Mutations in the relay loop region result in dominant-negative inhibition of myosin II function in Dictyostelium

Mutations in the retinoblastoma protein-binding LXCXE motif of rubella virus putative replicase affect virus replication

Mutations in the retinoblastoma-related gene RB2/p130 in lung tumors and suppression of tumor growth in vivo by retrovirus-mediated gene transfer

Mutations in the retinoblastoma-related gene RB2/p13O in primary nasopharyngeal carcinoma

Mutations in the ribonuclease H active site of HIV-RT reveal a role for this site in stabilizing enzyme-primer-template binding

Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling

Mutations in the rpoB gene of Mycobacterium leprae from Korean leprosy patients

Mutations in the rpoB gene of multidrug-resistant Mycobacterium tuberculosis clinical isolates from India

Mutations in the rpoB gene of multidrug-resistant Mycobacterium tuberculosis isolates from Brazil

Mutations in the rpoB gene of rifampicin-resistant Mycobacterium tuberculosis strains isolated in Brazil and France

Mutations in the rpoB gene of rifampin-resistant Mycobacterium tuberculosis isolates in Spain and their rapid detection by PCR-enzyme-linked immunosorbent assay

Mutations in the rpoB gene of rifampin-resistant Mycobacterium tuberculosis strains isolated mostly in Asian countries and their rapid detection by line probe assay

Mutations in the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase isoform cause Darier's disease

Mutations in the second C2 domain of synaptotagmin disrupt synaptic transmission at Drosophila neuromuscular junctions

Mutations in the second extracellular region of connexin 43 prevent localization to the plasma membrane, but do not affect its ability to suppress cell growth

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects

Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia

Mutations in the stumpy gene reveal intermediate targets for zebrafish motor axons

Mutations in the substrate binding domain of the Escherichia coli 70 kDa molecular chaperone, DnaK, which alter substrate affinity or interdomain coupling

Mutations in the substrate binding site of thrombin-activatable fibrinolysis inhibitor (TAFI) alter its substrate specificity

Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia

Mutations in the tether region of the iron-sulfur protein affect the activity and assembly of the cytochrome bc1 complex of yeast mitochondria

Mutations in the thiol-disulfide oxidoreductases BdbC and BdbD can suppress cytochrome c deficiency of CcdA-defective Bacillus subtilis cells

Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss

Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia

Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Mutations in the tropoelastin gene (ELN) were not found in patients with spontaneous cervical artery dissections

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

Mutations in the tumor suppressors Smad2 and Smad4 inactivate transforming growth factor beta signaling by targeting Smads to the ubiquitin-proteasome pathway

Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

Mutations in the v-Rel transactivation domain indicate altered phosphorylation and identify a subset of NF-kappaB-regulated cell death inhibitors important for v-Rel transforming activity

Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting

Mutations in the voltage-dependent anion channel of the mitochondrial outer membrane cause a dominant nonlethal growth impairment

Mutations in the white gene of Drosophila melanogaster affecting ABC transporters that determine eye colouration

Mutations in the yeast Hsp40 chaperone protein Ydj1 cause defects in Axl1 biogenesis and pro-a-factor processing

Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase

Mutations in the yeast Nhp6 protein can differentially affect its in vivo functions

Mutations in the yeast cyclin-dependent kinase Cdc28 reveal a role in the spindle assembly checkpoint

Mutations in the yeast mitochondrial RNA polymerase specificity factor, Mtf1, verify an essential role in promoter utilization

Mutations in the yeast two pore K+ channel YKC1 identify functional differences between the pore domains

Mutations in the yellow fever virus nonstructural protein NS2A selectively block production of infectious particles

Mutations in the zebrafish unmask shared regulatory pathways controlling the development of catecholaminergic neurons

Mutations in topoisomerase genes of fluoroquinolone-resistant salmonellae in Hong Kong

Mutations in translation initiation factors lead to increased rates of deadenylation and decapping of mRNAs in Saccharomyces cerevisiae

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

Mutations in two distinct regions of acetolactate synthase regulatory subunit from Streptomyces cinnamonensis result in the lack of sensitivity to end-product inhibition

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype

Mutations in two independent genes lead to suppression of the shoot apical meristem in maize

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans

Mutations in von Willebrand factor multimerization domains are not a common cause of classical type 1 von Willebrand disease

Mutations in wheat showing altered field resistance to yellow and brown rust

Mutations in yeast Rad51 that partially bypass the requirement for Rad55 and Rad57 in DNA repair by increasing the stability of Rad51-DNA complexes

Mutations in yeast protein phosphatase type 1 that affect targeting subunit binding

Mutations in yeast replication proteins that increase CAG/CTG expansions also increase repeat fragility

Mutations in zinc-binding domains of p53 as a prognostic marker of esophageal-cancer patients

Mutations induced by (-)-anti-11R,12S-dihydrodiol 13S,14R-epoxide of dibenzo(a,l)pyrene in the coding region of the hypoxanthine phosphoribosyltransferase (Hprt) gene in Chinese hamster V79 cells

Mutations induced by 1,3-butadiene metabolites, butadiene diolepoxide, and 1,2,3,4-diepoxybutane at the hprt locus in CHO-K1 cells

Mutations induced by 2-amino-1-methyl-6-phenylimidazo (4,5-b)pyridine (PhIP) in cecum and proximal and distal colon of lacI transgenic rats

Mutations induced by 5-formyl-2'-deoxyuridine in Escherichia coli include base substitutions that can arise from mispairs of 5-formyluracil with guanine, cytosine and thymine

Mutations induced by alpha-hydroxytamoxifen in the lacI and cII genes of Big Blue transgenic rats

Mutations induced by bacteriophage T7 RNA polymerase and their effects on the composition of the T7 genome

Mutations induced by reactive nitrogen oxide species in the supF forward mutation assay

Mutations induced by some DNA minor groove binding alkylators in AS52 Chinese hamster cells

Mutations induced in the HPRT gene by X-irradiation during G1 or S: Analysis of base pair alterations, small deletions, and splice errors

Mutations inducing divergent shifts of constitutive activity reveal different modes of binding among catecholamine analogues to the beta2-adrenergic receptor

Mutations influencing the frr gene coding for ribosome recycling factor (RRF)

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A

Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA

Mutations lowering the phosphatase activity of HPr kinase/phosphatase switch off carbon metabolism

Mutations modulating the Argos-regulated signaling pathway in Drosophila eye development

Mutations occurring during serial passage of Japanese equine infectious anemia virus in primary horse macrophages

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Mutations of APC gene MCR region in sporadic colorectal adenomas and carcinomas

Mutations of APC, K-ras, and p53 are associated with specific chromosomal aberrations in colorectal adenocarcinomas

Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: Intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns

Mutations of Adenomatous polyposis coli and beta-catenin genes during progression of lung tumors induced by N-nitrosobis(2-hydroxypropyl)amine in rats

Mutations of Arg198 in sarcoplasmic reticulum Ca2+-ATPase cause inhibition of hydrolysis of the phosphoenzyme intermediate formed from inorganic phosphate

Mutations of Arg440 and Gly455/Gly456 oppositely change pH sensing of Na+/H+ exchanger 1

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM

Mutations of CD40 ligand in two patients with hyper-IgM syndrome

Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2

Mutations of CTNS causing intermediate cystinosis

Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein

Mutations of Chk2 in primary hematopoietic neoplasms

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

Mutations of GCH1 in Dopa-responsive dystonia

Mutations of GJB2 in three geographic isolates from northern Tunisia: Evidence for genetic heterogeneity within isolates

Mutations of Gly to Ala in human glutathione transferase P1-1 affect helix 2 (G-site) and induce positive cooperativity in the binding of glutathione

Mutations of LH and FSH receptors

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

Mutations of MYO6 are associated with recessive deafness, DFNB37

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

Mutations of RPGR in X-linked retinitis pigmentosa (RP3)

Mutations of RegIalpha are associated with enterochromaffin-like cell tumor development in patients with hypergastrinemia

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

Mutations of Ser-23 of the alpha1 subunit of the rat Na+/K+-ATPase to negatively charged amino acid residues mimic the functional effect of PKC-mediated phosphorylation

Mutations of TP53 do not correlate with the sensitivity to paclitaxel: A study using 27 gynaecological cancer cell lines

Mutations of TP53 induce loss of DNA methylation and amplification of the TROP1 gene

Mutations of TP53, amplification of EGFR, MDM2 and CDK4, and deletions of CDKN2A in malignant astrocytomas

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer

Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase

Mutations of alpha-galactosidase a gene in two unusual cases of Fabry disease

Mutations of an epitope hot-spot residue alter rate limiting steps of antigen-antibody protein-protein associations

Mutations of arginine 64 within the putative Ca2+-binding lumenal interhelical a-b loop of the photosystem II D1 protein disrupt binding of the manganese stabilizing protein and cytochrome c550 in Synechocystis sp. PCC6803

Mutations of arginine residues within the 146-KKRRK-150 motif of the ActA protein of Listeria monocytogenes abolish intracellular motility by interfering with the recruitment of the Arp2/3 complex

Mutations of bacterial RNA polymerase leading to resistance to microcin J25

Mutations of barley beta-amylase that improve substrate-binding affinity and thermostability

Mutations of basic arginine residue 334 in the D1 protein of Photosystem II lead to unusual S2 state properties in Synechocystis sp. PCC 6803

Mutations of c-kit JM domain are found in a minority of human gastrointestinal stromal tumors

Mutations of calcium channel beta subunit genes in mice

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan

Mutations of cartilage oligomeric matrix protein gene in multiple epiphyseal dysplasia

Mutations of cytochrome c oxidase subunits 1 and 3 in Saccharomyces cerevisiae: Assembly defect and compensation

Mutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the Cys876-Cys888 disulfide bond

Mutations of endo-beta-N-acetylglucosaminidase H active site residues Asp130 and Glu132: Activities and conformations

Mutations of extracellular matrix components in vascular disease

Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: Genotype/phenotype

Mutations of genes affecting heart development of Drosophila

Mutations of glutamate-84 at the putative potassium-binding site affect camphor binding and oxidation by cytochrome P450cam

Mutations of gonadotrophin and gonadotrophin receptor genes: What do they teach us about reproductive physiology?

Mutations of hepatitis C virus 1b NS5A 2209-2248 amino acid sequence is not a predictive factor for response to interferon-alpha therapy and development of hepatocellular carcinoma

Mutations of human topoisomerase IIalpha affecting multidrug resistance and sensitivity

Mutations of loop 2 and loop 3 residues in domain II of Bacillus thuringiensis Cry1C delta-endotoxin affect insecticidal specificity and initial binding to Spodoptera littoralis and Aedes aegypti midgut membranes

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

Mutations of mtDNA in renal cell tumours arising in end-stage renal disease

Mutations of muscle glycogen synthase that disable activation by glucose 6-phosphate

Mutations of oncoprotein 18/stathmin identify tubulin-directed regulatory activities distinct from tubulin association

Mutations of ovine and bovine placental lactogens change, in different ways, the biological activity mediated through homologous and heterologous lactogenic receptors

Mutations of p53 gene and SV40 sequences in asbestos associated and non-asbestos-associated mesotheliomas

Mutations of p53 gene in epithelial ovarian tumor detecting by modified PCR-SSCP silver staining method

Mutations of p53 gene in gastric carcinoma in Taiwan

Mutations of p53 gene in human colorectal cancer: Distinct frameshifts among populations

Mutations of p53 in morphologically non-neoplastic mucosa of long-standing ulcerative colitis

Mutations of p53 tumor suppressor gene, apoptosis, and proliferation in intrahepatic cholangiocellular carcinoma of the liver

Mutations of p53, c-kit, K-ras, and beta-catenin gene in non-Hodgkin's lymphoma of adrenal gland

Mutations of penicillin acylase residue B71 extend substrate specificity by decreasing steric constraints for substrate binding

Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins

Mutations of polymerase, precore and core promoter gene in hepatitis B virus during 5-year lamivudine therapy

Mutations of rabphillin-3A-like gene in colorectal cancers

Mutations of ras protooncogenes and p53 tumor suppressor gene in cardiac hemangiosarcomas from B6C3F1 mice exposed to 1,3-butadiene for 2 years

Mutations of respiratory syncytial virus attachment glycoprotein G associated with resistance to neutralization by primate polyclonal antibodies

Mutations of ret proto-oncogene in 3 Korean families with MEN 2A: Clinical use of a new restriction sites for genetic diagnosis

Mutations of retinoblastoma gene (Rb-1) as a prognostic factor in children with acute leukemia and neuroblastoma

Mutations of rubella virus vaccine TO-336 strain occurred in the attenuation process of wild progenitor virus

Mutations of serine 236-237 and tyrosine 302 residues in the human lipoxin A4 receptor intracellular domains result in sustained signaling

Mutations of several tumor suppressor genes in primary retinoblastoma

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

Mutations of stonewall disrupt the maintenance of female germline stem cells in Drosophila melanogaster

Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure

Mutations of the 3' untranslated region of the SDF1 gene in apes and monkeys: Potential impact on sensitivity to AIDS induced by lentiviruses

Mutations of the 5alpha-steroid reductase type 2 gene in six Turkish patients from unrelated families and a large pedigree of an isolated Turkish village

Mutations of the ACTH receptor gene in a new family with isolated glucocorticoid deficiency

Mutations of the AML1 gene in acute myeloid leukemia of FAB types M0 and M7

Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis

Mutations of the APC gene in human sporadic colorectal cancers

Mutations of the BAK gene are infrequent in advanced gastric adenocarcinomas in Koreans

Mutations of the BCL6 proto-oncogene disrupt its negative autoregulation in diffuse large B-cell lymphoma

Mutations of the BIK gene in human peripheral B-cell lymphomas

Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma

Mutations of the BRAF gene in human cancer

Mutations of the BRAF gene in squamous cell carcinoma of the head and neck

Mutations of the BRCA1 and BRCA2 genes in Danish patients diagnosed at young age with multi-centric or bilateral breast cancer

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer

Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability

Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation

Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors

Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan

Mutations of the Caenorhabditis elegans brain-specific inorganic phosphate transporter eat-4 affect habituation of the tap-withdrawal response without affecting the response itself

Mutations of the D310 mitochondrial mononucleotide repeat in primary tumors and cytological specimens

Mutations of the DPC4/Smad4 gene in neuroendocrine pancreatic tumors

Mutations of the E2F4 gene in hematological malignancies having microsatellite instability

Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone

Mutations of the GREAT gene cause cryptorchidism

Mutations of the HFE gene in patients with hepatocellular carcinoma

Mutations of the Helicobacter pylori genes rdxA and pbp1 cause resistance against metronidazole and amoxicillin

Mutations of the IL-12 receptor beta2 chain gene in atopic subjects

Mutations of the MEN1 tumor suppressor gene in sporadic pituitary tumors

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: Implications for thyroid dysfunction in Pendred syndrome

Mutations of the PH domain of protein kinase B (PKB/AKT) are absent in human epidermal skin tumors

Mutations of the PKD1 gene among Japanese autosomal dominant poly