Genomes and Genes
Experts and Doctors on dna mutational analysis in United States
Locale: United States
Topic: dna mutational analysis
Publications427 found, 100 shown here
- Crosby H, Escalante Semerena J. The acetylation motif in AMP-forming Acyl coenzyme A synthetases contains residues critical for acetylation and recognition by the protein acetyltransferase pat of Rhodopseudomonas palustris. J Bacteriol. 2014;196:1496-504 pubmed publisher..Analysis of published crystal structures suggests that the side chains of these two residues are very close to the acetylated lysine residue, indicating that they may directly interact with RpPat. ..
- Charlton M, Karlitz J, Schlichting J, Chen V, Lynch C. Factors Associated With Guideline-recommended KRAS Testing in Colorectal Cancer Patients: A Population-based Study. Am J Clin Oncol. 2017;40:498-506 pubmed publisher..KRAS testing was collected by Surveillance, Epidemiology, and End Results (SEER) registries for 2010 CRC cases, and our goal was to provide the first population-based estimates of testing in the United States...
- Stanton J, Marmorstein A, Zhang Y, Marmorstein L. Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes. Invest Ophthalmol Vis Sci. 2017;58:1455-1461 pubmed publisher..These results suggest that fibulin-3 is a central player in the development of BLamD, and deletion of fibulin-3 is protective against the development of BLamD. ..
- Acciani M, Alston J, Zhao G, Reynolds H, Ali A, Xu B, et al. Mutational Analysis of Lassa Virus Glycoprotein Highlights Regions Required for Alpha-Dystroglycan Utilization. J Virol. 2017;91: pubmed publisher..Our results highlight a region within the Lassa virus GP1 protein that interacts with the cellular receptor alpha-dystroglycan. This information may be used for future development of new Lassa virus antivirals. ..
- Salles M, Motta F, Dias da Silva E, Varela P, Costa K, Filippelli Silva R, et al. Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation. Invest Ophthalmol Vis Sci. 2017;58:5723-5730 pubmed publisher..The various pathogenic variation combinations observed in this study were associated with different phenotypes. ..
- Chistoserdova L, Lidstrom M. Genetics of the serine cycle in Methylobacterium extorquens AM1: identification of sgaA and mtdA and sequences of sgaA, hprA, and mtdA. J Bacteriol. 1994;176:1957-68 pubmed..Our data suggest that this enzyme plays an integral role in methylotrophic metabolism in M. extorquens AM1, either in formaldehyde oxidation or as part of the serine cycle. ..
- Buettner V, Hill K, Nishino H, Schaid D, Frisk C, Sommer S. Increased mutation frequency and altered spectrum in one of four thymic lymphomas derived from tumor prone p53/Big Blue double transgenic mice. Oncogene. 1996;13:2407-13 pubmed..In conclusion, these findings suggest that altered frequencies and spectra exist in a subset of thymic lymphomas, perhaps due to somatic mutation in one or more DNA repair genes. ..
- Thompson D, Daniels C. Heat shock inducibility of an archaeal TATA-like promoter is controlled by adjacent sequence elements. Mol Microbiol. 1998;27:541-51 pubmed..volcanii differs from the bacterial and eukaryal strategies. ..
- Ferguson Yankey S, Skrzypek M, Lester R, Dickson R. Mutant analysis reveals complex regulation of sphingolipid long chain base phosphates and long chain bases during heat stress in yeast. Yeast. 2002;19:573-86 pubmed..Our data provide a basis for determining how the basal and heat-induced levels of individual species of LCBs and LCBPs are governed by the Lcb4p and Lcb5p kinases, the Dpl1p lyase and the Lcb3p phosphatase. ..
- Crow J. Development. There's something curious about paternal-age effects. Science. 2003;301:606-7 pubmed
- Ameri A, Machiah D, Tran T, Channell C, Crenshaw V, Fernstrom K, et al. A nonstop mutation in the factor (F)X gene of a severely haemorrhagic patient with complete absence of coagulation FX. Thromb Haemost. 2007;98:1165-9 pubmed..This is the first report implying such a mechanism in the pathogenesis of inherited bleeding disorders. ..
- Chiang P, Lee N, Chien N, Hwu W, Spector E, Tsai A. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A. 2009;149A:1463-7 pubmed publisher..Additional family studies are required to determine how common somatic and/or gonadal mosaicism is present in RSTS patients...
- Vila L, Liu H, Al Quran S, Coco D, Dong H, Liu C. Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland. Mod Pathol. 2009;22:1296-302 pubmed publisher..Our study raises a prospect of correlation of c-kit mutation and a potential treatment of adenoid cystic carcinoma with tyrosine kinase inhibitor (imatinib). ..
- Wellehan J, Yu F, Venn Watson S, Jensen E, Smith C, Farmerie W, et al. Characterization of San Miguel sea lion virus populations using pyrosequencing-based methods. Infect Genet Evol. 2010;10:254-60 pubmed publisher..SMSV appears to behave as a quasispecies. Assessment of original patient samples is preferable for understanding clinical SMSV populations. ..
- Collie A, Landsverk M, Ruzzo E, Mefford H, Buysse K, Adkins J, et al. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. J Med Genet. 2010;47:601-7 pubmed publisher..These duplications account for one third of the patients in our cohort, suggesting that duplications of various sizes within the SEPT9 gene are a common cause of HNA. ..
- van Calcar S, Baker M, Williams P, Jones S, Xiong B, Thao M, et al. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin. Mol Genet Metab. 2013;110:111-5 pubmed publisher..1165 A>G mutation before knowing whether the optimal screening cut-off would minimize true positives or false negatives for SBCADD associated with this mutation. ..
- Patel N, Khan A, Mansour A, Mohamed J, Al Assiri A, Haddad R, et al. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014;94:755-9 pubmed publisher..These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development. ..
- de Boer P, Crossley R, Rothfield L. Roles of MinC and MinD in the site-specific septation block mediated by the MinCDE system of Escherichia coli. J Bacteriol. 1992;174:63-70 pubmed
- Wolf J, David V, Deutch A. Identification of a distal regulatory element in the 5' flanking region of the bovine prolactin gene. Nucleic Acids Res. 1990;18:4905-12 pubmed..5 kb from the rat prolactin transcription initiation site. Deletion analysis of the enhancer region shows that sequences -1124 to -985 are necessary and sufficient for enhancer activity. ..
- Shastry B, Hejtmancik F, Trese M. Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis. Biochem Biophys Res Commun. 1999;256:317-9 pubmed..These mutations, which are transmitted through three generations, cosegregated with the disease, and are not found in the unaffected family members and 150 normal X-chromosomes, are likely to be pathogenic in these families. ..
- Lasak J, Welling D, Akhmametyeva E, Salloum M, Chang L. Retinoblastoma-cyclin-dependent kinase pathway deregulation in vestibular schwannomas. Laryngoscope. 2002;112:1555-61 pubmed..Further investigation into the regulatory mechanisms governing CDK2 expression may lead to a better understanding of vestibular schwannoma tumorigenesis. ..
- Champagne K, Sissler M, Larrabee Y, DOUBLIE S, Francklyn C. Activation of the hetero-octameric ATP phosphoribosyl transferase through subunit interface rearrangement by a tRNA synthetase paralog. J Biol Chem. 2005;280:34096-104 pubmed
- Tester D, Ackerman M. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007;49:240-6 pubmed..Accordingly, postmortem cardiac channel genetic testing should be pursued in the evaluation of autopsy-negative SUD. ..
- Ross O, Braithwaite A, Skipper L, Kachergus J, Hulihan M, Middleton F, et al. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol. 2008;63:743-50 pubmed publisher..SNCA genomic duplication results from intraallelic (segmental duplication) or interallelic recombination with unequal crossing over, whereas both mechanisms appear to be required for genomic SNCA triplication. ..
- Becker H, Marcucci G, Maharry K, Radmacher M, Mrozek K, Margeson D, et al. Mutations of the Wilms tumor 1 gene (WT1) in older patients with primary cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. Blood. 2010;116:788-92 pubmed publisher..Our results indicate that WT1mut CN-AML represents a distinct entity with poor treatment response across age groups. This study has been registered at www.clinicaltrials.gov as #NCT00900224...
- Rupp J, Jundt N, Hardy R. Requirement for the amino-terminal domain of sindbis virus nsP4 during virus infection. J Virol. 2011;85:3449-60 pubmed publisher..Additionally, the inability of the mutant viruses to efficiently inhibit host protein synthesis suggests a role for nsP4 in the regulation of host cell gene expression. ..
- Shao X, Raman B, Zhu M, Mielenz J, Brown S, Guss A, et al. Mutant selection and phenotypic and genetic characterization of ethanol-tolerant strains of Clostridium thermocellum. Appl Microbiol Biotechnol. 2011;92:641-52 pubmed publisher..The potential role of these mutations in ethanol tolerance phenotype is discussed...
- Moseley B, Dhamija R, Wirrell E, Nickels K. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatr Neurol. 2012;46:101-5 pubmed publisher..Although no treatment eliminated seizures, topiramate, vigabatrin, and the ketogenic diet were most helpful at reducing seizure frequency. ..
- Tawfik A, Gnana Prakasam J, Smith S, Ganapathy V. Deletion of hemojuvelin, an iron-regulatory protein, in mice results in abnormal angiogenesis and vasculogenesis in retina along with reactive gliosis. Invest Ophthalmol Vis Sci. 2014;55:3616-25 pubmed publisher..Deletion of Hjv in mice leads to abnormal retinal angiogenesis/vasculogenesis, with proliferation of new, leaky blood vessels in the vitreous. These changes are accompanied with reactive gliosis involving Müller cells and microglia. ..
- Maxson J, Luty S, Macmaniman J, Paik J, Gotlib J, Greenberg P, et al. The Colony-Stimulating Factor 3 Receptor T640N Mutation Is Oncogenic, Sensitive to JAK Inhibition, and Mimics T618I. Clin Cancer Res. 2016;22:757-64 pubmed publisher..Because of its similarities to CSF3R T618I, the T640N mutation likely has diagnostic and therapeutic relevance in CNL/aCML. ..
- Nowling T, Fulton J, Chike Harris K, Gilkeson G. Ets factors and a newly identified polymorphism regulate Fli1 promoter activity in lymphocytes. Mol Immunol. 2008;45:1-12 pubmed..Furthermore, the presence of a polymorphic microsatellite in the Fli1 promoter may contribute to increased Fli1 expression in T cells during lupus disease progression. ..
- Gubbels M, Lehmann M, Muthalagi M, Jerome M, Brooks C, Szatanek T, et al. Forward genetic analysis of the apicomplexan cell division cycle in Toxoplasma gondii. PLoS Pathog. 2008;4:e36 pubmed publisher..The genes identified include regulators of spindle formation, nuclear trafficking, and protein degradation. The genetic approach described here should be widely applicable to numerous essential aspects of parasite biology. ..
- Kehr E, Jorns J, Ang D, Warrick A, Neff T, Degnin M, et al. Mucinous breast carcinomas lack PIK3CA and AKT1 mutations. Hum Pathol. 2012;43:2207-12 pubmed publisher..This series represents the largest study, to date, of PIK3CA genotyping in mucinous carcinoma and supports the unique pathogenetics of invasive mucinous breast carcinoma. ..
- Conlin C, Miller C. Cloning and nucleotide sequence of opdA, the gene encoding oligopeptidase A in Salmonella typhimurium. J Bacteriol. 1992;174:1631-40 pubmed..The predicted OpdA sequence showed similarity to dipeptidyl carboxypeptidase, the product of the S. typhimurium gene dcp, and to rat metallopeptidase EC 184.108.40.206., which is involved in peptide hormone processing. ..
- Payami H, Nutt J, Gancher S, Bird T, McNeal M, Seltzer W, et al. SCA2 may present as levodopa-responsive parkinsonism. Mov Disord. 2003;18:425-9 pubmed..The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism...
- Martinez Gomez N, Robers M, Downs D. Mutational analysis of ThiH, a member of the radical S-adenosylmethionine (AdoMet) protein superfamily. J Biol Chem. 2004;279:40505-10 pubmed..Increased levels of AdoMet also corrected the thiamine requirement of members of the latter class. Residues required for in vivo function were identified and are discussed in the context of structures available for AdoMet enzymes. ..
- Tefferi A, Lasho T, Schwager S, Strand J, Elliott M, Mesa R, et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer. 2006;106:631-5 pubmed
- Parks S, Kushner J, Nauman D, Burgess D, Ludwigsen S, Peterson A, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008;156:161-9 pubmed publisher..We sought to examine the frequency of mutations in LMNA, the gene encoding lamin A/C, in patients with idiopathic (IDC) or familial dilated cardiomyopathy (FDC)...
- Gregory M, Guzauskas G, Edgar T, Clarkson K, Srivastava A, Holden K. A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. J Child Neurol. 2008;23:1433-8 pubmed publisher..The 7-year-old child recently reponded well to a benzodiazepine. Future studies are warranted to examine whether this new missense mutation is solely responsible for this atypical phenotype. ..
- Zhang X, Liu X, Joseph L, Zhao L, Hart J, Xiao S. Pancreatic ductal adenocarcinoma with autoimmune pancreatitis-like histologic and immunohistochemical features. Hum Pathol. 2014;45:621-7 pubmed publisher..Therefore, caution is necessary when making a diagnosis of AIP by needle biopsy of a mass lesion, and patients with a tentative AIP diagnosis should be closely followed up clinically. ..
- Sganga M, Aksamit R, Cantoni G, Bauer C. Mutational and nucleotide sequence analysis of S-adenosyl-L-homocysteine hydrolase from Rhodobacter capsulatus. Proc Natl Acad Sci U S A. 1992;89:6328-32 pubmed
- Stojiljkovic I, Bäumler A, Heffron F. Ethanolamine utilization in Salmonella typhimurium: nucleotide sequence, protein expression, and mutational analysis of the cchA cchB eutE eutJ eutG eutH gene cluster. J Bacteriol. 1995;177:1357-66 pubmed..Ethanolamine-utilization mutants were slightly attenuated in a mouse model of S. typhimurium infection, indicating that ethanolamine may be an important source of nitrogen and carbon for S. typhimurium in vivo...
- Gitlin S, Lanzendorf S, Gibbons W. Polymerase chain reaction amplification specificity: incidence of allele dropout using different DNA preparation methods for heterozygous single cells. J Assist Reprod Genet. 1996;13:107-11 pubmed..The purpose was to evaluate methods of DNA preparation in a single cell to determine the ability to amplify and correctly diagnose a targeted gene...
- Yu H, Lee M, Starck L, Elias E, Irons M, Salen G, et al. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000;9:1385-91 pubmed..We estimate that between 33 and 42% of the variation in the SLOS severity score is accounted for by variation in plasma cholesterol. Thus, factors other than plasma cholesterol are additionally involved in determining severity. ..
- Parma E, Korkko J, Hagler W, Ala Kokko L. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol. 2002;134:728-34 pubmed..The predominant ocular findings are a congenitally abnormal vitreous and an acquired radial perivascular retinal degeneration that may lead to complicated childhood and adult retinal detachment. ..
- Merritt J, DiTonno J, Mitra R, Church G, Edwards J. Parallel competition analysis of Saccharomyces cerevisiae strains differing by a single base using polymerase colonies. Nucleic Acids Res. 2003;31:e84 pubmed..By functional complementation of yeast deletions with human homologs, our technique could be readily applied to the functional analysis of single nucleotide polymorphisms in human genes of medical interest. ..
- DeBruyne J, Hurd M, Gutierrez L, Kaneko M, Tan Y, Wells D, et al. Isolation and phenogenetics of a novel circadian rhythm mutant in zebrafish. J Neurogenet. 2004;18:403-28 pubmed..However, all sequence variants found in per1 cDNA from lag(dg2) mutants are also present in wild type lines, and we were unable to detect any defect in per1 mRNA splicing, so this mutation may identify a novel clock gene. ..
- Antshel K, Kates W, Roizen N, Fremont W, Shprintzen R. 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychol. 2005;11:5-19 pubmed..2 Deletion Syndrome is also explored, including variables that are thought to affect symptom expression. The history of the deletion syndrome is described, and future directions for continued research are discussed. ..
- Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, et al. Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat. 2006;27:490-5 pubmed..705+1G>T, c.736_741del6ins11, c.862_863del, c.1688G>T, and c.2007-1G>A. We conclude that PMS2 mutation detection in selected Lynch syndrome and Lynch syndrome-like patients is both feasible and desirable...
- Pezzolesi M, Zbuk K, Waite K, Eng C. Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome. Hum Mol Genet. 2007;16:1058-71 pubmed
- Maes O, Schipper H, Chong G, Chertkow H, Wang E. A GSTM3 polymorphism associated with an etiopathogenetic mechanism in Alzheimer disease. Neurobiol Aging. 2010;31:34-45 pubmed publisher..Reduced antioxidant defense and genome maintenance associated with the GSTM3 polymorphism suggest a common hub of regulatory networks which, when impaired, may lead to AD. ..
- Vomaske J, Denton M, Kreklywich C, Andoh T, Osborn J, Chen D, et al. Cytomegalovirus CC chemokine promotes immune cell migration. J Virol. 2012;86:11833-44 pubmed publisher..Together our findings indicate that RCMV r129 is highly chemotactic, which has important implications during RCMV infection and reactivation and acceleration of TVS...
- Chiang T, Marzluf G. Binding affinity and functional significance of NIT2 and NIT4 binding sites in the promoter of the highly regulated nit-3 gene, which encodes nitrate reductase in Neurospora crassa. J Bacteriol. 1995;177:6093-9 pubmed..A significant NIT2-NIT4 protein-protein interaction might occur upon their binding to nearby sites. ..
- Wang C, Huang Y, Shi J, Marron M, Ruan Q, Hawkins Lee B, et al. Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene. Am J Med Genet. 1999;84:454-9 pubmed..However, mutation analysis excluded GOT1 as a candidate for the UFS gene. ..
- Mier R, Holderbaum D, Ferguson R, Moskowitz R. Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1). Mol Genet Metab. 2001;74:338-41 pubmed..This form of premature osteoarthritis may present in childhood and should be considered in the differential diagnosis of childhood arthropathy presenting in the context of a positive family history. ..
- Casey G, Neville P, Plummer S, Xiang Y, Krumroy L, Klein E, et al. RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Nat Genet. 2002;32:581-3 pubmed..Men that are heterozygous with respect to the mutated allele have 50% greater risk of prostate cancer than non-carriers, and homozygotes have more than double the risk. ..
- Herman G, Kelley R, Pureza V, Smith D, Kopacz K, Pitt J, et al. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genet Med. 2002;4:434-8 pubmed..The purpose of the current study was to determine the spectrum of EBP mutations in females with CDPX2 and the utility of biochemical screening for the disorder by analysis of plasma sterols...
- Gu Y, Lin Q, Childress C, Yang W. Identification of the region in Cdc42 that confers the binding specificity to activated Cdc42-associated kinase. J Biol Chem. 2004;279:30507-13 pubmed..Thus, our studies have defined a specific ACK-binding region in Cdc42 and have provided a molecular basis for generating ACK binding-defective mutants of Cdc42 to delineate ACK-mediated signaling pathway. ..
- Levinsohn E, Shrimpton A, Cady R, Packard D, Hootnick D. Congenital vertical talus in four generations of the same family. Skeletal Radiol. 2004;33:649-54 pubmed..Radiologic findings vary depending on the severity of involvement, treatment provided and age of the patient. ..
- Bacher J, Flanagan L, Smalley R, Nassif N, Burgart L, Halberg R, et al. Development of a fluorescent multiplex assay for detection of MSI-High tumors. Dis Markers. 2004;20:237-50 pubmed
- Tester D, Cronk L, Carr J, Schulz V, Salisbury B, Judson R, et al. Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. Heart Rhythm. 2006;3:815-21 pubmed
- Giurgiutiu D, Espinoza L, Wood T, DuPont B, Holden K. Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant. J Child Neurol. 2008;23:112-7 pubmed publisher..Extensive laboratory investigations indicate that the short-chain acyl-CoA dehydrogenase gene variant is likely preventing or delaying the normal expression of the Prader-Willi syndrome phenotype...
- Gad A, Laurino M, Maravilla K, Matsushita M, Raskind W. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?. Am J Med Genet A. 2008;146A:1880-5 pubmed publisher..All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. ..
- Farrell P, Rosenstein B, White T, Accurso F, Castellani C, Cutting G, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153:S4-S14 pubmed publisher..Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF...
- Kim J, Youm G, Kwon Y. Essential genes in Salmonella enteritidis as identified by TnAraOut mutagenesis. Curr Microbiol. 2008;57:391-4 pubmed publisher..Growth assay showed that the growth defects of these two mutants were fully restored by arabinose induction. ..
- Cooper J, Till B, Henikoff S. Fly-TILL: reverse genetics using a living point mutation resource. Fly (Austin). 2008;2:300-2 pubmed..We anticipate that our findings will help guide the future implementation of point-mutation resources for the Drosophila community. ..
- Chiang P, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, et al. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nat Genet. 2012;44:972-4 pubmed publisher..We also found NMNAT1 mutations in ten other individuals with LCA, all of whom carry the p.Glu257Lys variant. ..
- Ansari I, Allen T, Berical A, Stock P, Barin B, Striker R. Phenotypic analysis of NS5A variant from liver transplant patient with increased cyclosporine susceptibility. Virology. 2013;436:268-73 pubmed publisher..This work has implications for treatment of HCV by cyclophilin inhibitors. ..
- Patnaik M, Lasho T, Finke C, Hanson C, Hodnefield J, Knudson R, et al. Spliceosome mutations involving SRSF2, SF3B1, and U2AF35 in chronic myelomonocytic leukemia: prevalence, clinical correlates, and prognostic relevance. Am J Hematol. 2013;88:201-6 pubmed publisher..We conclude that SRSF2 is the most frequently mutated spliceosome gene in CMML but neither it nor SF3B1 or U2AF35 mutations are prognostically relevant. ..
- Jacoby G, Corcoran M, Mills D, Griffin C, Hooper D. Mutational analysis of quinolone resistance protein QnrB1. Antimicrob Agents Chemother. 2013;57:5733-6 pubmed publisher..Deletion of 10 amino acids at the N terminus is tolerated, but removal of 3 amino acids in the C-terminal dimerization unit destroys activity...
- Zhou X, Marsh D, Morrison C, Chaudhury A, Maxwell M, Reifenberger G, et al. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet. 2003;73:1191-8 pubmed..Individuals with LDD, even without apparent CS features, should be counseled as in CS. ..
- Rayaprolu S, Fujioka S, Traynor S, Soto Ortolaza A, Petrucelli L, Dickson D, et al. TARDBP mutations in Parkinson's disease. Parkinsonism Relat Disord. 2013;19:312-5 pubmed publisher..Our findings widen the phenotypic presentation for the TDP-43 p.N267S substitution and support a possible role for rare TDP-43 mutations presenting with Parkinson's disease. ..
- Turkowski K, Tester D, Bos J, Haugaa K, Ackerman M. Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy. Congenit Heart Dis. 2017;12:226-235 pubmed publisher..Herein, it is demonstrated that genetic mutations in CDH2-encoded N-cadherin may represent a novel pathogenetic basis for ACM in humans. The prevalence of CDH2-mediated ACM in heretofore genetically elusive ACM remains to be determined. ..
- Wang H, Milone M, Ohno K, Shen X, Tsujino A, Batocchi A, et al. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci. 1999;2:226-33 pubmed..Thus, we demonstrate a functional role for the M3 domain as a key component of the nicotinic acetylcholine receptor channel-gating mechanism. ..
- Sossey Alaoui K, Lyon J, Jones L, Abidi F, Hartung A, Hane B, et al. Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. Genomics. 1999;60:330-40 pubmed..Exclusive expression of the TRPC5 gene in developing and adult brain suggests a possible role during development and provides a candidate gene for instances of mental retardation and other developmental defects. ..
- Newman J, Falkowski M, Schilke B, Anthony L, Donohue T. The Rhodobacter sphaeroides ECF sigma factor, sigma(E), and the target promoters cycA P3 and rpoE P1. J Mol Biol. 1999;294:307-20 pubmed..Based on our observations, we present a model in which cohemin resistance is conferred by increasing sigma(E) activity. ..
- Schwartz C, Gillessen Kaesbach G, May M, Cappa M, Gorski J, Steindl K, et al. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Eur J Hum Genet. 2000;8:869-74 pubmed..These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome. ..
- Yu T, Muller R, Muller M, Zhang X, Draeger G, Kim C, et al. Mutational analysis and reconstituted expression of the biosynthetic genes involved in the formation of 3-amino-5-hydroxybenzoic acid, the starter unit of rifamycin biosynthesis in amycolatopsis Mediterranei S699. J Biol Chem. 2001;276:12546-55 pubmed..mediterranei. ..
- Cho S, Kim C, Cubells J, Zabetian C, Hwang D, Kim J, et al. Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy. Am J Med Genet A. 2003;120A:234-6 pubmed..In addition, no DBH mutation was found that distinguished autonomic disease patients from controls, suggesting that genetic variants of the DBH gene are not associated with the autonomic diseases OI, PAF, and MSA. ..
- Hogg M, Grujic Z, Baker M, Demirci S, Guillozet A, Sweet A, et al. The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy. Acta Neuropathol. 2003;106:323-36 pubmed..In addition, the results of the RD3 and ET3 immunostains clearly explain for the first time the presence of both 3R and 4R tau isoforms in preparations of insoluble tau from some Pick's disease cases. ..
- Ghosh D, Sachdev S, Hannink M, Roberts R. Coordinate regulation of basal and cyclic 5'-adenosine monophosphate (cAMP)-activated expression of human chorionic gonadotropin-alpha by Ets-2 and cAMP-responsive element binding protein. Mol Endocrinol. 2005;19:1049-66 pubmed..We propose that regulation of hCGalpha by Ets-2 and CREB enables coordinated expression of hCGalpha with its partner hCGbeta subunit. ..
- Whittaker J, Whittaker L. Characterization of the functional insulin binding epitopes of the full-length insulin receptor. J Biol Chem. 2005;280:20932-6 pubmed..They had no effect on the maximal response to insulin but produced an increase in the EC50 commensurate with their effect on the affinity of the receptor for insulin. ..
- Bernhardt T, de Boer P. SlmA, a nucleoid-associated, FtsZ binding protein required for blocking septal ring assembly over Chromosomes in E. coli. Mol Cell. 2005;18:555-64 pubmed..coli. Our combined genetic, cytological, and biochemical results suggest that SlmA is a DNA-associated division inhibitor that is directly involved in preventing Z ring assembly on portions of the membrane surrounding the nucleoid. ..