Genomes and Genes
Experts and Doctors on dna mutational analysis in Switzerland
Topic: dna mutational analysis
- Moynahan M, Chen D, He W, Sung P, Samoila A, You D, et al. Correlation between PIK3CA mutations in cell-free DNA and everolimus efficacy in HR+, HER2- advanced breast cancer: results from BOLERO-2. Br J Cancer. 2017;116:726-730 pubmed publisher..Mutation analysis of plasma-derived cfDNA by ddPCR suggests that PFS benefit of everolimus was maintained irrespective of PIK3CA genotypes, consistent with the previous analysis of archival tumour DNA by next-generation sequencing. ..
- Haase B, Obexer Ruff G, Dolf G, Rieder S, Burger D, Poncet P, et al. Haematological parameters are normal in dominant white Franches-Montagnes horses carrying a KIT mutation. Vet J. 2010;184:315-7 pubmed publisher..The data indicate that KIT mutations may have different effects in mice, pigs, and horses. The KIT p.Y717X mutation does not have a major negative effect on the haematopoietic system of dominant white horses. ..
- Altenbach D, Nüesch E, Ritsema T, Boller T, Wiemken A. Mutational analysis of the active center of plant fructosyltransferases: Festuca 1-SST and barley 6-SFT. FEBS Lett. 2005;579:4647-53 pubmed..Interestingly, point mutations of the EC-motif resulted in an enzyme which had lost the capability to form 1-kestose and glucose from sucrose but still accepted 1-kestose, producing fructose and sucrose as well as nystose. ..
- Abouzeid H, Meire F, Osman I, ElShakankiri N, Bolay S, Munier F, et al. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. Ophthalmology. 2009;116:154-162.e1 pubmed publisher..Molecular analysis of this phenotype may improve our understanding of anterior segment development...
- Lempp T, Suormala T, Siegenthaler R, Baumgartner E, Fowler B, Steinmann B, et al. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. Mol Genet Metab. 2007;90:284-90 pubmed..1097A>G/p.N366S; c.2081G>T/p.R694L) among 13 probands with a mut(-) defect. Our study provides evidence that the p.Y100C, p.R108H, p.N366S, p.V633G, p.R694W, p.R694L and p.M700K mutations are associated with a mut(-) phenotype. ..
- Nocker A, Hausherr T, Balsiger S, Krstulovic N, Hennecke H, Narberhaus F. A mRNA-based thermosensor controls expression of rhizobial heat shock genes. Nucleic Acids Res. 2001;29:4800-7 pubmed..We propose a model in which the temperature-regulated secondary structure of ROSE mRNA influences heat shock gene expression by controlling ribosome access to the ribosome-binding site. ..
- Vernez M, Hutter P, Monnerat C, Halkic N, Gugerli O, Bouzourene H. A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene. Fam Cancer. 2007;6:141-5 pubmed..2026T > C), predicted to disrupt the function of the gene. ..
- Olasz F, Farkas T, Stalder R, Arber W. Mutations in the carboxy-terminal part of IS30 transposase affect the formation and dissolution of (IS30)2 dimer. FEBS Lett. 1997;413:453-61 pubmed..The transposase part studied shows significant homologies in three highly conserved regions to proteins of IS30-related mobile elements. ..
- Abdou L, Chou H, Haas D, Lu C. Promoter recognition and activation by the global response regulator CbrB in Pseudomonas aeruginosa. J Bacteriol. 2011;193:2784-92 pubmed publisher..Based on these results and previously published data, a consensus CbrB recognition sequence is proposed. This sequence has similarity to the consensus NtrC recognition sequence, which is relevant for nitrogen control. ..
- Roknic N, Huber A, Hegemann S, Hausler R, Gürtler N. Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome. Acta Otolaryngol. 2012;132:1061-5 pubmed..The study was supported in part by the Emilia-Guggenheim-Schnurr-Foundation, Basel, Switzerland. ..
- Schorderet D, Iouranova A, Favez T, Tiab L, Escher P. IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. Biomed Res Int. 2013;2013:198089 pubmed publisher..In conclusion, targeted exon capture and next-generation sequencing are a valuable and efficient approach to identify disease-causing sequence variants in retinal dystrophies. ..
- Geffen I, Fuhrer C, Spiess M. Endocytosis by the asialoglycoprotein receptor is independent of cytoplasmic serine residues. Proc Natl Acad Sci U S A. 1991;88:8425-9 pubmed..Analysis of individual serine mutations identified serine-12 of subunit H2 as the major site of phosphorylation in the ASGP receptor. ..
- Wycisk K, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, et al. Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest Ophthalmol Vis Sci. 2006;47:3523-30 pubmed
- Keppel F, Lipinska B, Ang D, Georgopoulos C. Mutational analysis of the phage T4 morphogenetic 31 gene, whose product interacts with the Escherichia coli GroEL protein. Gene. 1990;86:19-25 pubmed..The sequencing of neighboring DNA revealed the presence of five other ORFs, one of which overlaps gene 31 substantially, but in the opposite orientation. ..
- Mehenni H, Resta N, Park J, Miyaki M, Guanti G, Costanza M. Cancer risks in LKB1 germline mutation carriers. Gut. 2006;55:984-90 pubmed..Moreover, this study provides age related cumulative risks of developing cancer in LKB1 mutation carriers that should be useful for developing a tailor made cancer surveillance protocol for Peutz-Jeghers syndrome patients. ..
- Drogemuller C, Philipp U, Haase B, Günzel Apel A, Leeb T. A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J Hered. 2007;98:468-73 pubmed..These results provide preliminary evidence that the reported regulatory MLPH mutation might represent a causal mutation for coat color dilution in dogs. ..
- Bontems F, Baerlocher L, Mehenni S, Bahechar I, Farinelli L, Dosch R. Efficient mutation identification in zebrafish by microarray capturing and next generation sequencing. Biochem Biophys Res Commun. 2011;405:373-6 pubmed publisher..We discovered a 31-bp deletion in macf1 demonstrating the potential of this technique to efficiently isolate mutations in a vertebrate genome. ..
- Nairz K, Zipperlen P, Dearolf C, Basler K, Hafen E. A reverse genetic screen in Drosophila using a deletion-inducing mutagen. Genome Biol. 2004;5:R83 pubmed..As the spectrum of HMPA-induced mutations is similar in a variety of organisms, it should be possible to transfer this mutagenesis and detection procedure to other model systems. ..
- Salzmann A, Guipponi M, Lyons P, Fricker L, Sapio M, Lambercy C, et al. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. Hum Mutat. 2012;33:124-35 pubmed publisher..This study suggests that CPA6 is genetically linked to an AR familial form of FS and TLE, and is associated with sporadic TLE cases. ..
- Vulto van Silfhout A, Rajamanickam S, Jensik P, Vergult S, De Rocker N, Newhall K, et al. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014;94:649-61 pubmed publisher..Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1...
- Moody S, Escudero Ibarz L, Wang M, Clipson A, Ochoa Ruiz E, Dunn Walters D, et al. Significant association between TNFAIP3 inactivation and biased immunoglobulin heavy chain variable region 4-34 usage in mucosa-associated lymphoid tissue lymphoma. J Pathol. 2017;243:3-8 pubmed publisher..Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. ..
- Genevaux P, Schwager F, Georgopoulos C, Kelley W. Scanning mutagenesis identifies amino acid residues essential for the in vivo activity of the Escherichia coli DnaJ (Hsp40) J-domain. Genetics. 2002;162:1045-53 pubmed..We propose that these clustered residues impart critical sequence determinants necessary for J-domain catalytic activity and reversible contact interface with the DnaK ATPase domain. ..
- Perren A, Komminoth P. Familial pheochromocytomas and paragangliomas: stories from the sign-out room. Endocr Pathol. 2006;17:337-44 pubmed..A brief summary of phenotypes, the genes involved, and typical mutations in these syndromes is provided...
- Maiti A, Bartoloni L, Mitchison H, Meeks M, Chung E, Spiden S, et al. No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD). Cytogenet Cell Genet. 2000;90:119-22 pubmed..No sequence abnormalities were observed in the DNAs of the affected individuals of the selected families. These results demonstrate that the FOXJ1 gene is not responsible for the PCD/KS phenotype in the families examined. ..
- Rivals J, Plattet P, Currat Zweifel C, Zurbriggen A, Wittek R. Adaptation of canine distemper virus to canine footpad keratinocytes modifies polymerase activity and fusogenicity through amino acid substitutions in the P/V/C and H proteins. Virology. 2007;359:6-18 pubmed
- Odermatt A, Barton K, Khanna V, Mathieu J, Escolar D, Kuntzer T, et al. The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease. Hum Genet. 2000;106:482-91 pubmed
- Radhakrishna U, Blouin J, Mehenni H, Mehta T, Sheth F, Sheth J, et al. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. Am J Med Genet. 1997;71:80-6 pubmed..The combination of data from all available families linked to 13q11-12.1 will make it possible to narrow the critical region and facilitate the positional cloning of the elusive gene. ..
- Pessi G, Haas D. Transcriptional control of the hydrogen cyanide biosynthetic genes hcnABC by the anaerobic regulator ANR and the quorum-sensing regulators LasR and RhlR in Pseudomonas aeruginosa. J Bacteriol. 2000;182:6940-9 pubmed..Together, these data indicate that expression of the hcn promoter from T1 can occur under quorum-sensing control alone. Enhanced expression from T2 appears to rely on a synergistic action between LasR, RhlR, and ANR...
- Drogemuller C, Leeb T, Harlizius B, Tammen I, Distl O, Höltershinken M, et al. Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). BMC Genet. 2007;8:5 pubmed..Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of syndactyly in the Holstein and Angus cattle breeds...
- Bartoloni L, Wattenhofer M, Kudoh J, Berry A, Shibuya K, Kawasaki K, et al. Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency. Genomics. 2000;70:190-200 pubmed..SLC37A1 maps in the refined critical region of the autosomal recessive deafness locus, DFNB10, on 21q22.3. Mutation analyses also excluded SLC37A1 as the gene for DFNB10. ..
- Mataftsi A, Schorderet D, Chachoua L, Boussalah M, Nouri M, Barthelmes D, et al. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. Invest Ophthalmol Vis Sci. 2007;48:5160-7 pubmed..This study provides the first description of FAF and quantitative reflectivity profiles in TULP1-related retinopathy. ..
- Tiab L, d Allèves Manzi V, Borruat F, Munier F, Schorderet D. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthalmic Genet. 2004;25:241-6 pubmed..Sporadic cases are often due to neo-mutations as in our case. Mutation analysis is important, especially in sporadic cases, to correctly evaluate recurrence and transmission risks. ..
- Scott H, Kyriakou D, Peterson P, Heino M, Tahtinen M, Krohn K, et al. Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. Genomics. 1998;47:64-70 pubmed..Mutation analysis using sequencing of RT-PCR and genomic DNA-derived PCR products, SSCP, and Southern and Northern blot analyses in APECED patients excluded C21orf2 as the gene for APECED. ..
- Haeuptle M, Pujol F, Neupert C, Winchester B, Kastaniotis A, Aebi M, et al. Human RFT1 deficiency leads to a disorder of N-linked glycosylation. Am J Hum Genet. 2008;82:600-6 pubmed publisher..RFT1 deficiency in both yeast and human cells leads to the accumulation of incomplete DolPP-GlcNAc(2)Man(5) and to a profound glycosylation disorder in humans. ..
- Weigell Weber M, Sarra G, Kotzot D, Sandkuijl L, Messmer E, Hergersberg M. Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. Arch Ophthalmol. 2003;121:1184-8 pubmed..A genomewide homozygosity mapping analysis supported the hypothesis that the gene responsible for a unique vitreoretinal dystrophy is located on chromosome 22q13. No obviously pathogenic mutation was found in the candidate gene, FBLN1. ..
- Neerman Arbez M, Johnson K, Morris M, McVey J, Peyvandi F, Nichols W, et al. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. Blood. 1999;93:2253-60 pubmed..In two such families, ERGIC-53 protein was detectable at normal levels in patients' lymphocytes, raising the further possibility of defects at other genetic loci. ..
- Frelet Barrand A, Kolukisaoglu H, Plaza S, Rüffer M, Azevedo L, Hortensteiner S, et al. Comparative mutant analysis of Arabidopsis ABCC-type ABC transporters: AtMRP2 contributes to detoxification, vacuolar organic anion transport and chlorophyll degradation. Plant Cell Physiol. 2008;49:557-69 pubmed publisher..Vacuolar uptake studies demonstrated that transport of typical MRP substrates was reduced in atmrp2. We conclude that within clade I, only AtMRP2 contributes significantly to overall organic anion pump activity in vivo...
- Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, et al. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. J Med Genet. 2009;46:281-6 pubmed publisher..Overall, mutations on both alleles of DNAH5 were identified in 15% of our clinically heterogeneous cohort of patients. Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene. ..
- Marino M, Deuss M, Svergun D, Konarev P, Sterner R, Mayans O. Structural and mutational analysis of substrate complexation by anthranilate phosphoribosyltransferase from Sulfolobus solfataricus. J Biol Chem. 2006;281:21410-21 pubmed publisher..Results allow the comparative analysis of PRT and pyrimidine NP families and expose related structural motifs involved in nucleotide/nucleoside recognition by these enzyme families...
- Drogemuller C, Drogemuller M, Leeb T, Mascarello F, Testoni S, Rossi M, et al. Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. Genomics. 2008;92:474-7 pubmed publisher..491G>A) leading to a p.Arg164His substitution. Arg164 represents a functionally important and strongly conserved residue of SERCA1. This study provides a suitable large animal model for human Brody disease...
- El Kochairi I, Letovanec I, Uffer S, Munier F, Chaubert P, Schorderet D. Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy. Mol Vis. 2006;12:461-6 pubmed..To investigate the location and tissue-specificity of the pathologic keratoepithelin (KE) deposition in a patient with a keratoepithelinopathy (KEP), TGFBI/BIGH3-related corneal dystrophy...
- Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer J, Berger W. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Invest Ophthalmol Vis Sci. 2006;47:1630-5 pubmed..Different amino acid substitutions at position 90 of rhodopsin can lead to night blindness or retinitis pigmentosa. The data suggest that the property of the substituted amino acid distinguishes between the phenotypes. ..
- Yam G, Bosshard N, Zuber C, Steinmann B, Roth J. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol. 2006;290:C1076-82 pubmed..Pharmacological chaperones acting on misfolded, unstable mutant proteins that exhibit residual biological activity offer a convenient and cost-efficient therapeutic strategy. ..
- Zeitz C, van Genderen M, Neidhardt J, Luhmann U, Hoeben F, Forster U, et al. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci. 2005;46:4328-35 pubmed..Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB...
- van der Straten A, Rommel C, Dickson B, Hafen E. The heat shock protein 83 (Hsp83) is required for Raf-mediated signalling in Drosophila. EMBO J. 1997;16:1961-9 pubmed..Our results indicate that Hsp83 is essential for Raf function in vivo. ..
- Crambert G, Li C, Swee L, Geering K. FXYD7, mapping of functional sites involved in endoplasmic reticulum export, association with and regulation of Na,K-ATPase. J Biol Chem. 2004;279:30888-95 pubmed..Moreover, FXYD7 is identified as a new member of proteins with a regulated ER export, which suggests that, among FXYD proteins, FXYD7 has a particular regulatory function in brain. ..
- Buhr A, Bianchi M, Baur R, Courtet P, Pignay V, Boulenger J, et al. Functional characterization of the new human GABA(A) receptor mutation beta3(R192H). Hum Genet. 2002;111:154-60 pubmed..The mutation beta3(R192H) might, therefore, be linked to this condition. The intron/exon boundaries of the alpha1 subunit gene were also established and three additional variants were found in the alpha1 and beta3 genes. ..
- Eugster M, Haug M, Huwiler S, Loessner M. The cell wall binding domain of Listeria bacteriophage endolysin PlyP35 recognizes terminal GlcNAc residues in cell wall teichoic acid. Mol Microbiol. 2011;81:1419-32 pubmed publisher..Complementation with lmo2550 completely restored display of characteristic serovar 1/2 specific WTA and the wild-type phenotype...
- Olasz F, Farkas T, Kiss J, Arini A, Arber W. Terminal inverted repeats of insertion sequence IS30 serve as targets for transposition. J Bacteriol. 1997;179:7551-8 pubmed..Therefore, this process can play a role in the evolution of the genome. ..
- Barekati Z, Radpour R, Kohler C, Zhang B, Toniolo P, Lenner P, et al. Methylation profile of TP53 regulatory pathway and mtDNA alterations in breast cancer patients lacking TP53 mutations. Hum Mol Genet. 2010;19:2936-46 pubmed publisher..Additionally, release of significant aberrant methylated PTEN in matched serum samples might represent a promising biomarker for breast cancer. ..
- Leuenberger M, Frigerio S, Wild P, Noetzli F, Korol D, Zimmermann D, et al. AID protein expression in chronic lymphocytic leukemia/small lymphocytic lymphoma is associated with poor prognosis and complex genetic alterations. Mod Pathol. 2010;23:177-86 pubmed publisher..Furthermore, the microenvironment of proliferation centers seems to influence AID regulation and might be an initiating factor in its transformation. ..
- Rechsteiner M, Zimmermann A, Wild P, Caduff R, von Teichman A, Fink D, et al. TP53 mutations are common in all subtypes of epithelial ovarian cancer and occur concomitantly with KRAS mutations in the mucinous type. Exp Mol Pathol. 2013;95:235-41 pubmed publisher..KRAS mutations with synchronous TP53 mutations occur predominantly in low-grade mucinous carcinomas, suggesting a specific molecular background of this ovarian cancer type. ..
- Falvey E, Fleury Olela F, Schibler U. The rat hepatic leukemia factor (HLF) gene encodes two transcriptional activators with distinct circadian rhythms, tissue distributions and target preferences. EMBO J. 1995;14:4307-17 pubmed..Thus, HLF43 stimulates transcription from the cholesterol 7 alpha-hydroxylase promoter much more efficiently than from the albumin promoter, while the converse is true for HLF36. ..
- Brodbeck M, Yousif Q, Diener P, Zweier M, Gruenert J. The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. BMC Res Notes. 2016;9:294 pubmed publisher..A correct diagnosis of Buschke-Ollendorff syndrome is necessary to spare patients from expensive investigations and to provide reassurance about the benign nature of the disease. ..
- Westin G, Schaffner W. A zinc-responsive factor interacts with a metal-regulated enhancer element (MRE) of the mouse metallothionein-I gene. EMBO J. 1988;7:3763-70 pubmed..A chemical methylation interference assay revealed remarkably similar but non-identical guanine interference patterns for the MTF-1 and Sp1 complexes, which may mean that MTF-1 is related to the Sp1 factor. ..
- Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, et al. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet. 2002;11:2829-36 pubmed
- Petitprez S, Tiab L, Chen L, Kappeler L, Rösler K, Schorderet D, et al. A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. Neurology. 2008;71:1669-75 pubmed publisher..Mutations in SCN4A may lead to myotonia...
- Biason Lauber A, Kempken B, Werder E, Forest M, Einaudi S, Ranke M, et al. 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. J Clin Endocrinol Metab. 2000;85:1226-31 pubmed
- Giunta C, Steinmann B. Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. Hum Mutat. 2000;16:176-7 pubmed..Eleven of the 12 identified mutations are newly recognized. Furthermore, we report a preliminary comparison of RNase cleavage, EMC and DHPLC assays in mutation detection in the COL3A1 gene. ..
- Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, et al. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet. 2000;67:1296-301 pubmed..3 can be causally involved in EKV and point to genetic heterogeneity of this disorder. Furthermore, we suggest that our family presents a new type of EKV because of the hitherto unreported association with erythema gyratum repens. ..
- Keller D, Huang H, Zhao J, Frank R, Suarez V, Delacretaz E, et al. A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. Cardiovasc Res. 2006;70:521-9 pubmed..Our findings indicate for the first time that the shift in activation and change in the slope factor at a higher temperature mimicking fever could reduce sodium currents' amplitude and trigger the manifestation of the BS phenotype. ..
- Schonrock N, Exner V, Probst A, Gruissem W, Hennig L. Functional genomic analysis of CAF-1 mutants in Arabidopsis thaliana. J Biol Chem. 2006;281:9560-8 pubmed
- Rüfenacht U, Gregor A, Gouya L, Tarczynska Nosal S, Schneider Yin X, Deybach J. New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype. Clin Chem. 2001;47:1112-3 pubmed
- Müller Immerglück M, Schaffner W, Matthias P. Transcription factor Oct-2A contains functionally redundant activating domains and works selectively from a promoter but not from a remote enhancer position in non-lymphoid (HeLa) cells. EMBO J. 1990;9:1625-34 pubmed..From these experiments we consider it likely that the natural octamer factor variants can selectively activate the different naturally occurring octamer-containing promoters. ..
- Khatib K, Belin D. A novel class of secA alleles that exert a signal-sequence-dependent effect on protein export in Escherichia coli. Genetics. 2002;162:1031-43 pubmed
- Nicod J, Dick B, Frey F, Ferrari P. Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production. Mol Cell Endocrinol. 2004;214:167-74 pubmed..By this method we could not identify genetic variants responsible for a GRA-like phenotype. The presence of high levels of 18OHF should not be used alone as a diagnosis tool for GRA. ..
- Li B, Trueb B. Analysis of the alpha-actinin/zyxin interaction. J Biol Chem. 2001;276:33328-35 pubmed..This binding site involved a tandem array of two complete spectrin-like domains. Only fragments that were able to dimerize in yeast also bound to zyxin, suggesting that dimerization of alpha-actinin is essential for zyxin binding. ..
- Interthal H, Bellocq C, Bahler J, Bashkirov V, Edelstein S, Heyer W. A role of Sep1 (= Kem1, Xrn1) as a microtubule-associated protein in Saccharomyces cerevisiae. EMBO J. 1995;14:1057-66 pubmed..Taken together these three lines of evidence constitute compelling evidence for a role of Sep1 as an accessory protein in microtubule function in the yeast S.cerevisiae. ..
- Reed D, Gibson J. Molecular heterogeneity of naturally occurring sn-glycerol-3-phosphate dehydrogenase low-activity variants in Drosophila melanogaster. Biochem Genet. 1994;32:161-79 pubmed..9-kb transcript had heterogeneous 5' ends that were not associated with substitute TATA box sequences. The two transcripts either are produced at a lower rate or are less stable than the normal mRNA. ..
- Lalioti M, Mirotsou M, Buresi C, Peitsch M, Rossier C, Ouazzani R, et al. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet. 1997;60:342-51 pubmed..In addition, a tandem repeat in the 5' UTR (CCCCGCCCCGCG) is present two or three times in normal alleles. It is peculiar that in the majority of patients no mutations exist within the exons and splice sites of the cystatin B gene. ..
- Schenk S, Schraml P, Bendik I, Ludwig C. A novel polymorphism in the promoter of the RAGE gene is associated with non-small cell lung cancer. Lung Cancer. 2001;32:7-12 pubmed..Interestingly, the AA genotype was more common in NSCLC patients (20.8%) than in controls (3.5%). The cumulative occurrence of the AA variant in NSCLC suggests that this genotype is a putative risk factor for NSCLC development. ..
- Morscher R, Grünert S, Bürer C, Burda P, Suormala T, Fowler B, et al. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Mol Genet Metab. 2012;105:602-6 pubmed publisher..Among these, 21 carried a single mutant allele in either MCCC1 (n=20) or MCCC2 (n=1). Our results suggest that heterozygosity for such a single deleterious mutation may lead to misdiagnosis of MCC deficiency. ..
- Villard J, Reith W, Barras E, Gos A, Morris M, Antonarakis S, et al. Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. Hum Mutat. 1997;10:430-5 pubmed
- Tanner S, Laporte J, Guiraud Chaumeil C, Liechti Gallati S. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Hum Mutat. 1998;11:62-8 pubmed..Moreover, pedigree analyses provide first information on de novo mutation frequency in this newly identified human disease gene...
- Gohring I, Tagariello A, Endele S, Stolt C, Ghassibe M, Fisher M, et al. Disruption of ST5 is associated with mental retardation and multiple congenital anomalies. J Med Genet. 2010;47:91-8 pubmed publisher..Thus, these findings implicate ST5 in the aetiology of mental retardation, seizures and multiple congenital anomalies. ..
- Haase B, Brooks S, Schlumbaum A, Azor P, Bailey E, Alaeddine F, et al. Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet. 2007;3:e195 pubmed
- Fröhlich B, Zeitz C, Matyas G, Alkadhi H, Tuor C, Berger W, et al. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. Eur Respir J. 2008;32:1316-20 pubmed publisher..Mutations in the folliculin gene are associated with cystic lung lesions in an otherwise morphological normal lung and predispose to spontaneous pneumothorax. ..