Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.

abstract：:Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib-polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer-Saldino chondrodysplasia syndromes. These three syndromes are frequently caused by m...

journal_title：Human mutation

authors： Schmidts M,Frank V,Eisenberger T,Al Turki S,Bizet AA,Antony D,Rix S,Decker C,Bachmann N,Bald M,Vinke T,Toenshoff B,Di Donato N,Neuhann T,Hartley JL,Maher ER,Bogdanović R,Peco-Antić A,Mache C,Hurles ME,Joksić I,G

更新日期：2013-05-01 00:00:00

abstract：:Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptors. These diseases show marked phenotypic and genetic heterogeneity. The Israeli IRD consortium (IIRDC) was established in 2013 with the goal of performing clinical and genetic mapping of the majority of I...

journal_title：Human mutation

authors： Sharon D,Ben-Yosef T,Goldenberg-Cohen N,Pras E,Gradstein L,Soudry S,Mezer E,Zur D,Abbasi AH,Zeitz C,Cremers FPM,Khan MI,Levy J,Rotenstreich Y,Birk OS,Ehrenberg M,Leibu R,Newman H,Shomron N,Banin E,Perlman I

更新日期：2020-01-01 00:00:00

abstract：:A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression levels and transcript...

journal_title：Human mutation

authors： Denecke J,Kranz C,Kemming D,Koch HG,Marquardt T

更新日期：2004-05-01 00:00:00

abstract：:Chemotherapy is a major treatment modality for individuals affected by cancer. Currently, a number of genome-based technologies are being adopted to identify genes associated with drug response; however, large-scale genetic association applications are still limited. Here we describe a novel strategy based on the gene...

journal_title：Human mutation

authors： Jarjanazi H,Kiefer J,Savas S,Briollais L,Tuzmen S,Pabalan N,Ibrahim-Zada I,Mousses S,Ozcelik H

更新日期：2008-04-01 00:00:00

abstract：:Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, ...

journal_title：Human mutation

authors： Mayer AK,Van Cauwenbergh C,Rother C,Baumann B,Reuter P,De Baere E,Wissinger B,Kohl S,ACHM Study Group.

更新日期：2017-11-01 00:00:00

abstract：:We have analyzed DNA from peripheral blood of 42 cases of familial melanoma for germline mutations in exon 15 of the BRAF gene. No evidence of mutation was found. We have also analyzed DNA extracted from secondary melanoma from two members of these families. These results were also negative. In addition we have search...

journal_title：Human mutation

authors： Lang J,Boxer M,MacKie R

更新日期：2003-03-01 00:00:00

abstract：:Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. In this paper we describe 12 IRIDA patients belonging to 7 unrelated families and identify 10 (9 novel) TMPRSS6 mutations spread along th...

journal_title：Human mutation

authors： De Falco L,Totaro F,Nai A,Pagani A,Girelli D,Silvestri L,Piscopo C,Campostrini N,Dufour C,Al Manjomi F,Minkov M,Van Vuurden DG,Feliu A,Kattamis A,Camaschella C,Iolascon A

更新日期：2010-05-01 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：:Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS) has been mapped to chromosome 7q22-q31, a...

journal_title：Human mutation

authors： López-Bigas N,Rabionet R,de Cid R,Govea N,Gasparini P,Zelante L,Arbonés ML,Estivill X

更新日期：1999-01-01 00:00:00

abstract：:A single nucleotide polymorphism (SNP) at codon 64 in the CC chemokine receptor 2 gene (CCR2 V64I) has been associated with a dominant effect of delaying disease progression from human immunodeficiency virus-1 (HIV-1) infection to acquired immunodeficiency syndrome (AIDS). The objective of our study was to design a co...

journal_title：Human mutation

authors： Petersen DC,Laten A,Zeier MD,Grimwood A,Rensburg EJ,Hayes VM

更新日期：2002-10-01 00:00:00

abstract：:The 2016 scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 20th of May in Barcelona, Spain, with the theme of "Clinical Interpretation of Variants from Next-Generation Sequencing." ...

journal_title：Human mutation

authors： Oetting WS,Brookes AJ,Béroud C,Taschner PE

更新日期：2016-10-01 00:00:00

abstract：:Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japa...

journal_title：Human mutation

authors： Gao HZ,Kobayashi K,Tabata A,Tsuge H,Iijima M,Yasuda T,Kalkanoglu HS,Dursun A,Tokatli A,Coskun T,Trefz FK,Skladal D,Mandel H,Seidel J,Kodama S,Shirane S,Ichida T,Makino S,Yoshino M,Kang JH,Mizuguchi M,Barshop BA

更新日期：2003-07-01 00:00:00

abstract：:Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expressed, essential en...

journal_title：Human mutation

authors： McLaughlin HM,Sakaguchi R,Giblin W,NISC Comparative Sequencing Program.,Wilson TE,Biesecker L,Lupski JR,Talbot K,Vance JM,Züchner S,Lee YC,Kennerson M,Hou YM,Nicholson G,Antonellis A

更新日期：2012-01-01 00:00:00

abstract：:Several investigators have reported germline mutations of the APC gene in patients with familial adenomatous polyposis (FAP) as well as somatic mutations in tumors developed in digestive organs (stomach, pancreas, colon, and rectum). Those results provide evidence that inactivation of the APC gene plays a significant ...

journal_title：Human mutation

authors： Nagase H,Nakamura Y

更新日期：1993-01-01 00:00:00

abstract：:The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described which result in aberrant splicing of DHPR transcript...

journal_title：Human mutation

authors： Smooker PM,Cotton RG

更新日期：1995-01-01 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：:Maternal folate levels and polymorphisms in folate-related genes are known risk factors for neural tube defects (NTDs). SNPs in the mitochondrial folate gene MTHFD1L are associated with the risk of NTDs. We investigated whether different alleles of SNP rs7646 in the 3' UTR of MTHFD1L can be differentially regulated by...

journal_title：Human mutation

authors： Minguzzi S,Selcuklu SD,Spillane C,Parle-McDermott A

更新日期：2014-01-01 00:00:00

abstract：:MSeqDR is the Mitochondrial Disease Sequence Data Resource, a centralized and comprehensive genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations of individual patient phenotypes, genomes, genes, and variants. A central Web ...

journal_title：Human mutation

authors： Shen L,Diroma MA,Gonzalez M,Navarro-Gomez D,Leipzig J,Lott MT,van Oven M,Wallace DC,Muraresku CC,Zolkipli-Cunningham Z,Chinnery PF,Attimonelli M,Zuchner S,Falk MJ,Gai X

更新日期：2016-06-01 00:00:00

abstract：:Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and hematological phenotypic heterogeneity. Over 1,200 different genetic alterations that affect the DNA se...

journal_title：Human mutation

authors： Patrinos GP,Kollia P,Papadakis MN

更新日期：2005-11-01 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：:We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lefèvre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early-onset, severe periodontitis. Others have also reported CTSC mutations in patients with severe prepubertal pe...

journal_title：Human mutation

authors： Hewitt C,McCormick D,Linden G,Turk D,Stern I,Wallace I,Southern L,Zhang L,Howard R,Bullon P,Wong M,Widmer R,Gaffar KA,Awawdeh L,Briggs J,Yaghmai R,Jabs EW,Hoeger P,Bleck O,Rüdiger SG,Petersilka G,Battino M,Bre

更新日期：2004-03-01 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 Usher syndromes are autosomal recessive hereditary disorders characterized by hearing impairment and progressive visual loss due to Retinitis Pigmentosa (RP). Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long arm of chromosome 1q4...

journal_title：Human mutation

authors： Adato A,Weston MD,Berry A,Kimberling WJ,Bonne-Tamir A

更新日期：2000-04-01 00:00:00

abstract：:Here we present a computational model, Score of Unified Regulatory Features (SURF), that predicts functional variants in enhancer and promoter elements. SURF is trained on data from massively parallel reporter assays and predicts the effect of variants on reporter expression levels. It achieved the top performance in ...

journal_title：Human mutation

authors： Dong S,Boyle AP

更新日期：2019-09-01 00:00:00

abstract：:Mucolipidosis (ML) II and MLIII alpha/beta are two pediatric lysosomal storage disorders caused by mutations in the GNPTAB gene, which encodes an α/β-subunit precursor protein of GlcNAc-1-phosphotransferase. Considerable variations in the onset and severity of the clinical phenotype in these diseases are observed. We ...

journal_title：Human mutation

authors： De Pace R,Coutinho MF,Koch-Nolte F,Haag F,Prata MJ,Alves S,Braulke T,Pohl S

更新日期：2014-03-01 00:00:00

abstract：:DNA mismatch repair (MMR) is essential for genome stability and inheritance of a mutated MMR gene, most frequently MSH2 or MLH1, results in cancer predisposition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC). Tumors that arise through MMR deficiency show instability at simple tandem repe...

journal_title：Human mutation

authors： Mendez-Bermudez A,Royle NJ

更新日期：2011-08-01 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：:The inclusion of a mutation in a pathology-based database such as the Human Gene Mutation Database (HGMD) is a two-stage process: first, the mutation must occur at the DNA level, then it must cause a clinically detectable disease state. The likelihood of the latter step, termed the relative clinical observation likeli...

journal_title：Human mutation

authors： Terp BN,Cooper DN,Christensen IT,Jørgensen FS,Bross P,Gregersen N,Krawczak M

更新日期：2002-08-01 00:00:00

abstract：:N-acetyltransferase (NAT2) is an enzyme involved in detoxification of various carcinogens. The gene is highly polymorphic with a number of alleles, and is also known as acetylator phenotypes: the fast, intermediate and slow acetylators. In this report, we describe a novel NAT2 allele, which was found in the allele typ...

journal_title：Human mutation

authors： Shishikura K,Hohjoh H,Tokunaga K

更新日期：2000-06-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole-exome sequencing to iden...

journal_title：Human mutation

authors： Ng BG,Raymond K,Kircher M,Buckingham KJ,Wood T,Shendure J,Nickerson DA,Bamshad MJ,University of Washington Center for Mendelian Genomics.,Wong JT,Monteiro FP,Graham BH,Jackson S,Sparkes R,Scheuerle AE,Cathey S,Kok F,Gib

更新日期：2015-11-01 00:00:00