In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: potential for clinical application.

abstract：:The BRCA1 and BRCA2 genes are involved in breast and ovarian cancer susceptibility. About 2 to 4% of breast cancer patients with positive family history, negative for point mutations, can be expected to carry large rearrangements in one of these two genes. We developed a novel diagnostic genetic test for the physical ...

journal_title：Human mutation

authors： Cheeseman K,Rouleau E,Vannier A,Thomas A,Briaux A,Lefol C,Walrafen P,Bensimon A,Lidereau R,Conseiller E,Ceppi M

更新日期：2012-06-01 00:00:00

abstract：:Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for accurately assessing t...

journal_title：Human mutation

authors： Smith ED,Radtke K,Rossi M,Shinde DN,Darabi S,El-Khechen D,Powis Z,Helbig K,Waller K,Grange DK,Tang S,Farwell Hagman KD

更新日期：2017-05-01 00:00:00

abstract：:During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3-gene, encoding for a tyrosine kinase that is functionally coupled to cytokine receptors which...

journal_title：Human mutation

authors： Notarangelo LD,Mella P,Jones A,de Saint Basile G,Savoldi G,Cranston T,Vihinen M,Schumacher RF

更新日期：2001-10-01 00:00:00

abstract：:Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH poly...

journal_title：Human mutation

authors： Isidro G,Laranjeira F,Pires A,Leite J,Regateiro F,Castro e Sousa F,Soares J,Castro C,Giria J,Brito MJ,Medeira A,Teixeira R,Morna H,Gaspar I,Marinho C,Jorge R,Brehm A,Ramos JS,Boavida MG

更新日期：2004-10-01 00:00:00

abstract：:Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. We describe a novel missense mutation in exon 6 causing the substitution of Asp335 by Val. In transient transfections no enzyme activity could be expressed from the arylsulfatase A cDNA carrying this mutation. Exa...

journal_title：Human mutation

authors： Hess B,Kafert S,Heinisch U,Wenger DA,Zlotogora J,Gieselmann V

更新日期：1996-01-01 00:00:00

abstract：:Fumarate hydratase (FH) mutations underpin the autosomal recessive syndrome. FH deficiency and the autosomal dominant syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH c.1431_1433dupAAA (p.Lys477dup) genomic alteration has been conclusively shown to contribute to FH deficiency when occurring ...

journal_title：Human mutation

authors： Zhang L,Walsh MF,Jairam S,Mandelker D,Zhong Y,Kemel Y,Chen YB,Musheyev D,Zehir A,Jayakumaran G,Brzostowski E,Birsoy O,Yang C,Li Y,Somar J,DeLair D,Pradhan N,Berger MF,Cadoo K,Carlo MI,Robson ME,Stadler ZK,Iaco

更新日期：2020-01-01 00:00:00

abstract：:We previously identified the polymorphism ss52051869 in the 3'UTR of human SLC7A1, and demonstrated that it might participate in the apparent link between altered endothelial function, decreased L-arginine and nitric oxide (NO) metabolism, and a genetic predisposition to essential hypertension. Here, we demonstrate th...

journal_title：Human mutation

authors： Yang Z,Kaye DM

更新日期：2009-03-01 00:00:00

abstract：:The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutations were a C-G sub...

journal_title：Human mutation

authors： Barbat B,Bogyo A,Raux-Demay MC,Kuttenn F,Boué J,Simon-Bouy B,Serre JL,Mornet E

更新日期：1995-01-01 00:00:00

abstract：:Fibroblast growth factor 9 (FGF9) is a member of secreted polypeptide families and involved in many important biological processes, including implantation and morphogenesis during embryogenesis and adult life. Recently, Fgf9-knockout mice exhibited male-to-female sex reversal, demonstrating a novel function for FGF9 i...

journal_title：Human mutation

authors： Chen TM,Kuo PL,Hsu CH,Tsai SJ,Chen MJ,Lin CW,Sun HS

更新日期：2007-01-01 00:00:00

abstract：:The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are n...

journal_title：Human mutation

authors： Patrinos GP,Smith TD,Howard H,Al-Mulla F,Chouchane L,Hadjisavvas A,Hamed SA,Li XT,Marafie M,Ramesar RS,Ramos FJ,de Ravel T,El-Ruby MO,Shrestha TR,Sobrido MJ,Tadmouri G,Witsch-Baumgartner M,Zilfalil BA,Auerbach AD,Ca

更新日期：2012-11-01 00:00:00

abstract：:IgA nephropathy (IgAN) is a polygenic disorder. Increasing evidence has implicated that aberrant glycosylation of IgA1 molecules, including alpha2,6 sialic acid defects, are involved in the pathogenesis of IgAN. In the present study, we designed an association study to investigate polymorphisms of two important genes,...

journal_title：Human mutation

authors： Li GS,Zhu L,Zhang H,Lv JC,Ding JX,Zhao MH,Shen Y,Wang HY

更新日期：2007-10-01 00:00:00

abstract：:Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals w...

journal_title：Human mutation

authors： Crimi M,Sciacco M,Galbiati S,Bordoni A,Malferrari G,Del Bo R,Biunno I,Bresolin N,Comi GP

更新日期：2002-11-01 00:00:00

abstract：:Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identified on both alleles...

journal_title：Human mutation

authors： Giuliano F,Bannwarth S,Monnot S,Cano A,Chabrol B,Vialettes B,Delobel B,Paquis-Flucklinger V,French Group of WS.

更新日期：2005-01-01 00:00:00

abstract：:Uridine-diphosphoglucuronate glucuronosyltransferases (UGTs) are a family of enzymes that conjugate various endogenous and exogenous compounds with glucuronic acid and facilitate their excretion in the bile. Bilirubin-UGT(1) (UGT1A1) is the only isoform that significantly contributes to the conjugation of bilirubin. L...

journal_title：Human mutation

authors： Kadakol A,Ghosh SS,Sappal BS,Sharma G,Chowdhury JR,Chowdhury NR

更新日期：2000-10-01 00:00:00

abstract：:Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy. A 43-year-old proband, his father and two sons were heterozygous for a c.1715G>C p.(Arg572Pro) variant in CAPN3. ...

journal_title：Human mutation

authors： Vissing J,Dahlqvist JR,Roudaut C,Poupiot J,Richard I,Duno M,Krag T

更新日期：2020-09-01 00:00:00

abstract：:The abundantly expressed calcium/calmodulin-dependent protein kinase II (CAMK2), alpha (CAMK2A), and beta (CAMK2B) isoforms are essential for learning and memory formation. Recently, a de novo candidate mutation (p.Arg292Pro) in the gamma isoform of CAMK2 (CAMK2G) was identified in a patient with severe intellectual d...

journal_title：Human mutation

authors： Proietti Onori M,Koopal B,Everman DB,Worthington JD,Jones JR,Ploeg MA,Mientjes E,van Bon BW,Kleefstra T,Schulman H,Kushner SA,Küry S,Elgersma Y,van Woerden GM

更新日期：2018-12-01 00:00:00

abstract：:MED12 is a key component of the transcription-regulating Mediator complex. Specific missense and in-frame insertion/deletion mutations in exons 1 and 2 have been identified in uterine leiomyomas, breast tumors, and chronic lymphocytic leukemia. Here, we characterize the first MED12 5' end nonsense mutation (c.97G>T, p...

journal_title：Human mutation

authors： Heikkinen T,Kämpjärvi K,Keskitalo S,von Nandelstadh P,Liu X,Rantanen V,Pitkänen E,Kinnunen M,Kuusanmäki H,Kontro M,Turunen M,Mäkinen N,Taipale J,Heckman C,Lehti K,Mustjoki S,Varjosalo M,Vahteristo P

更新日期：2017-03-01 00:00:00

abstract：:Protein tyrosine phosphatases (PTPs) tightly regulate tyrosine phosphorylation essential for cell growth, adhesion, migration, and survival. We performed a mutational analysis of the PTP gene family in cutaneous metastatic melanoma and identified 23 phosphatase genes harboring somatic mutations. Among these, receptor-...

journal_title：Human mutation

authors： Walia V,Prickett TD,Kim JS,Gartner JJ,Lin JC,Zhou M,Rosenberg SA,Elble RC,Solomon DA,Waldman T,Samuels Y

更新日期：2014-11-01 00:00:00

abstract：:ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND). Functional assessment of variants helps to distinguish normal from disease-causing variants and provides information on important amino acid residues. A total of 11 missense variants of ATP7...

journal_title：Human mutation

authors： Hsi G,Cullen LM,Macintyre G,Chen MM,Glerum DM,Cox DW

更新日期：2008-04-01 00:00:00

abstract：:Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations withi...

journal_title：Human mutation

authors： Pattison S,Pankarican M,Rupar CA,Graham FL,Igdoura SA

更新日期：2004-01-01 00:00:00

abstract：:We have analysed 194 Belgian CF chromosomes using a variety of techniques: delta F508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G-->A, and N1303K; molecular defects in exons 2, 3, 4, 5, 6b, 7, 11, 12, 13, 14a, 14b, 17b, 19, 20, and...

journal_title：Human mutation

authors： Mercier B,Lissens W,Audrézet MP,Bonduelle M,Liebaers I,Ferec C

更新日期：1993-01-01 00:00:00

abstract：:Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterol-emia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations in 35 unrelated Brazilian patients with heterozygous FH...

journal_title：Human mutation

authors： Salazar LA,Hirata MH,Cavalli SA,Nakandakare ER,Forti N,Diament J,Giannini SD,Bertolami MC,Hirata RD

更新日期：2002-04-01 00:00:00

abstract：:FH Helsinki is a deletion of the low-density lipoprotein receptor (LDLR) gene that deletes 9.6 kb from intron 15 to exon 18. Screening for mutant transcripts by Northern blot analysis from a patient heterozygous for FH Helsinki revealed two mutant transcripts. One was a transcript where the proximal part of intron 15 ...

journal_title：Human mutation

authors： Rødningen OK,Tonstad S,Ose L,Berg K,Leren TP

更新日期：1998-01-01 00:00:00

abstract：:The proliferation of biomedical literature makes it increasingly difficult for researchers to find and manage relevant information. However, identifying research articles containing mutation data, a requisite first step in integrating large and complex mutation data sets, is currently tedious, time-consuming and impre...

journal_title：Human mutation

authors： McDonald R,Scott Winters R,Ankuda CK,Murphy JA,Rogers AE,Pereira F,Greenblatt MS,White PS

更新日期：2006-09-01 00:00:00

abstract：:Deficiency of propionyl-CoA carboxylase (PCC) results in propionic acidemia, an autosomal recessive disorder characterized by ketoacidosis sufficiently severe to cause neonatal death. PCC is involved in the catabolism of branched-chain amino acids, odd-chain fatty acids, and cholesterol. The enzyme is a biotin-depende...

journal_title：Human mutation

authors： Chloupkova M,Maclean KN,Alkhateeb A,Kraus JP

更新日期：2002-06-01 00:00:00

abstract：:Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering ...

journal_title：Human mutation

authors： Cvačková Z,Matějů D,Staněk D

更新日期：2014-03-01 00:00:00

abstract：:Cystic fibrosis transmembrane conductance regulator (CFTR) gene studies are now one of the most frequent activities in clinical molecular genetics laboratories. The number of requests is growing, owing to the increasingly wide range of recognized CFTR gene diseases (cystic fibrosis, congenital bilateral absence of the...

journal_title：Human mutation

authors： Girodon-Boulandet E,Cazeneuve C,Goossens M

更新日期：2000-01-01 00:00:00

abstract：:The 22q11.2 deletion syndrome (22q11DS) affects 1:4,000 live births and presents with highly variable phenotype expressivity. In this study, we developed an analytical approach utilizing whole-genome sequencing (WGS) and integrative analysis to discover genetic modifiers. Our pipeline combined available tools in order...

journal_title：Human mutation

authors： Chung JH,Cai J,Suskin BG,Zhang Z,Coleman K,Morrow BE

更新日期：2015-08-01 00:00:00

abstract：:Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitative Bayesian formulation. Here, we show that the underlying ACMG/AMP "s...

journal_title：Human mutation

authors： Tavtigian SV,Harrison SM,Boucher KM,Biesecker LG

更新日期：2020-07-27 00:00:00

abstract：:Retinitis pigmentosa (RP) constitutes a major cause of blindness and the Retinitis Pigmentosa GTPase Regulator (RPGR) gene accounts for up to 80% of all X-linked RP cases. A novel isoform of RPGR, expressed in the human retina, was identified and characterized. It truncates the Regulator of Chromosome Condensation 1 (...

journal_title：Human mutation

authors： Neidhardt J,Glaus E,Barthelmes D,Zeitz C,Fleischhauer J,Berger W

更新日期：2007-08-01 00:00:00