An online locus-specific mutation database for familial hypertrophic cardiomyopathy.

abstract：:Currently, two nomenclature systems are in use to describe sequence variants for cystic fibrosis: the established traditional nomenclature system and the more recent Human Genome Variation Society (HGVS) nomenclature system. We have evaluated the use of both systems in the laboratory reports of 217 participants in the...

journal_title：Human mutation

authors： Berwouts S,Morris MA,Girodon E,Schwarz M,Stuhrmann M,Dequeker E

更新日期：2011-11-01 00:00:00

abstract：:We have identified a novel RPGR gene mutation in a large Dutch family with X-linked retinitis pigmentosa (RP3). In affected members, a G-->T transversion was found at position +1 of the 5' splice site of intron 5 of the RPGR (retinitis pigmentosa GTPase regulator) gene. Analysis of this mutation at the RNA level showe...

journal_title：Human mutation

authors： Dry KL,Manson FD,Lennon A,Bergen AA,Van Dorp DB,Wright AF

更新日期：1999-01-01 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：:In the area of pharmacogenetics and personalized health care it is obvious that databases, providing important information of the occurrence and consequences of variant genes encoding drug metabolizing enzymes, drug transporters, drug targets, and other proteins of importance for drug response or toxicity, are of crit...

journal_title：Human mutation

authors： Sim SC,Altman RB,Ingelman-Sundberg M

更新日期：2011-05-01 00:00:00

abstract：:Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. ...

journal_title：Human mutation

authors： Greber-Platzer S,Guldberg P,Scheibenreiter S,Item C,Schuller E,Patel N,Strobl W

更新日期：1997-01-01 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：:We have screened index cases from 25 Russian breast/ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using multiplex heteroduplex analysis. In addition we tested 22 patients with breast cancer diagnosed before age 40 without family history and 6 patients with bilateral ...

journal_title：Human mutation

authors： Tereschenko IV,Basham VM,Ponder BA,Pharoah PD

更新日期：2002-02-01 00:00:00

abstract：:Longitudinal bone growth is determined by the process of endochondral ossification in the cartilaginous growth plate, which is located at both ends of vertebrae and long bones and involves many systemic hormones and local regulators. We report the molecular characterization of a de novo balanced t(2;7)(q37.1;q21.3) tr...

journal_title：Human mutation

authors： Bocciardi R,Giorda R,Buttgereit J,Gimelli S,Divizia MT,Beri S,Garofalo S,Tavella S,Lerone M,Zuffardi O,Bader M,Ravazzolo R,Gimelli G

更新日期：2007-07-01 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：:Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and mol...

journal_title：Human mutation

authors： Zhang XJ,He PP,Li M,He CD,Yan KL,Cui Y,Yang S,Zhang KY,Gao M,Chen JJ,Li CR,Jin L,Chen HD,Xu SJ,Huang W

更新日期：2004-06-01 00:00:00

abstract：:Disease gene discovery has been transformed by affordable sequencing of exomes and genomes. Identification of disease-causing mutations requires sifting through a large number of sequence variants. A subset of the variants are unlikely to be good candidates for disease causation based on one or more of the following c...

journal_title：Human mutation

authors： Fuentes Fajardo KV,Adams D,NISC Comparative Sequencing Program.,Mason CE,Sincan M,Tifft C,Toro C,Boerkoel CF,Gahl W,Markello T

更新日期：2012-04-01 00:00:00

abstract：:Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is c...

journal_title：Human mutation

authors： Denora PS,Schlesinger D,Casali C,Kok F,Tessa A,Boukhris A,Azzedine H,Dotti MT,Bruno C,Truchetto J,Biancheri R,Fedirko E,Di Rocco M,Bueno C,Malandrini A,Battini R,Sickl E,de Leva MF,Boespflug-Tanguy O,Silvestri G,S

更新日期：2009-03-01 00:00:00

abstract：:We analyzed the data regarding six Japanese ataxia-telangiectasia (A-T) patients from four unrelated families, at the DNA level, to search for possible common mutations in the Japanese population. Among eight mutant alleles in the four families, c. 4612del165 (exon 33 skipping) was identified in two alleles, and c. 57...

journal_title：Human mutation

authors： Fukao T,Song XQ,Yoshida T,Tashita H,Kaneko H,Teramoto T,Inoue R,Katamura K,Mayumi M,Hiratani M,Taniguchi N,Arai J,Wakiguchi H,Bar-Shira A,Shiloh Y,Kondo N

更新日期：1998-01-01 00:00:00

abstract：:The genetic defects responsible for most phenylketonuria (PKU) and hyperphenylalaninemia (HPA) cases are located in the phenylalanine hydroxylase (PAH) gene. Approximately 50-60 mutations have been reported in Caucasians and are reflected in a wide range of clinical severities. Most mutations are linked to specific ha...

journal_title：Human mutation

authors： Svensson E,Eisensmith RC,Dworniczak B,von Döbeln U,Hagenfeldt L,Horst J,Woo SL

更新日期：1992-01-01 00:00:00

abstract：:The dramatic advances in genetic sequencing technologies used in research laboratories are now entering the clinic, and applications of whole-genome and whole-exome sequencing to disease diagnosis, predisposition, and treatment will soon be commonplace. However, the standards and methods for identifying clinically rel...

journal_title：Human mutation

authors： Stanley CM,Sunyaev SR,Greenblatt MS,Oetting WS

更新日期：2014-04-01 00:00:00

abstract：:We have developed an improved allele-specific polymerase chain reaction (AS-PCR) procedure that can selectively amplify mutant DNA sequences (which differ from the normal sequences by a single base pair) in the presence of large excess of normal sequences. We applied this procedure to quantification of mutant molecule...

journal_title：Human mutation

authors： Liu VW,Zhang C,Linnane AW,Nagley P

更新日期：1997-01-01 00:00:00

abstract：:Primary ciliary dyskinesia (PCD) is an inherited disorder causing significant upper and lower respiratory tract morbidity and impaired fertility. Half of PCD patients show abnormal situs. Human disease loci have been identified but a mouse model without additional deleterious defects is elusive. The inversus viscerum ...

journal_title：Human mutation

authors： Lucas JS,Adam EC,Goggin PM,Jackson CL,Powles-Glover N,Patel SH,Humphreys J,Fray MD,Falconnet E,Blouin JL,Cheeseman MT,Bartoloni L,Norris DP,Lackie PM

更新日期：2012-03-01 00:00:00

abstract：:Allelic imbalance (AI) is a powerful tool to identify cis-regulatory variation for gene expression. UGT2B15 is an important enzyme involved in the metabolism of multiple endobiotics and xenobiotics. In this study, we measured the relative expression of two alleles at this gene by using SNP rs1902023:G>T. An excess of ...

journal_title：Human mutation

authors： Sun C,Southard C,Witonsky DB,Olopade OI,Di Rienzo A

更新日期：2010-01-01 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：:Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which enc...

journal_title：Human mutation

authors： Ianzano L,Young EJ,Zhao XC,Chan EM,Rodriguez MT,Torrado MV,Scherer SW,Minassian BA

更新日期：2004-02-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by alterations in the tumor suppressor gene NF1. Clinical manifestations include various neural crest derived tumors, pigmentation anomalies, bone deformations, and learning disabilities. NF1 encodes the Ras specific GTPase activating protein (RasGAP) ...

journal_title：Human mutation

authors： Welti S,Kühn S,D'Angelo I,Brügger B,Kaufmann D,Scheffzek K

更新日期：2011-02-01 00:00:00

abstract：:Mutations in the familial early-onset breast cancer gene (BRCA1) account for approximately 2-5% of all breast cancer cases (Easton et al., 1993). Since the isolation of the BRCA1 gene in 1994, many mutations have been identified. We report here a total of 254 BRCA1 mutations, 132 (52%) of which are unique. These repre...

journal_title：Human mutation

authors： Couch FJ,Weber BL

更新日期：1996-01-01 00:00:00

abstract：:The penetrance of the p.[Met694Val];[Met694Val] genotype of pyrin in adult familial Mediterranean fever (FMF) patients is close to 100%. Disease penetrance of the p.[Met694Val];[Glu148Gln] genotype (M694V/E148Q), and the heterozygous p.[Met694Val];[=] genotype is unknown. A difference in the penetrance of the latter t...

journal_title：Human mutation

authors： Eyal O,Shinar Y,Pras M,Pras E

更新日期：2020-11-01 00:00:00

abstract：:TP63 germ-line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of ectoderm-derived tissues. Here, we report the identification of two TP63 alleles, G134V (p.Gly173Val) and insR155 (p.Thr193_Tyr194insArg), associated to ADULT and EEC synd...

journal_title：Human mutation

authors： Monti P,Russo D,Bocciardi R,Foggetti G,Menichini P,Divizia MT,Lerone M,Graziano C,Wischmeijer A,Viadiu H,Ravazzolo R,Inga A,Fronza G

更新日期：2013-06-01 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：:Previous evidence indicates that mutations in the GALNT12 gene might cause a fraction of the unexplained familial colorectal cancer (CRC) cases: GALNT12 is located in 9q22-33, in close proximity to a CRC linkage peak; and germline missense variants that reduce the enzymatic activity of the protein have been identified...

journal_title：Human mutation

authors： Seguí N,Pineda M,Navarro M,Lázaro C,Brunet J,Infante M,Durán M,Soto JL,Blanco I,Capellá G,Valle L

更新日期：2014-01-01 00:00:00

abstract：:This review summarizes the data on 278 different mutations found to date in the genes for types I, II, III, IX, X, and XI collagens from 317 apparently unrelated patients. A majority (217 mutations; 78% of the total) of the mutations are single-base and either change the codon of a critical amino acid (63%), or lead t...

journal_title：Human mutation

authors： Kuivaniemi H,Tromp G,Prockop DJ

更新日期：1997-01-01 00:00:00

abstract：:The aim of the study is to validate the etiological role of KIAA0027/MLC1 in childhood-onset megalencephalic leukoencephalopathy with subcortical cysts (MLC) and in schizophrenia, particularly the catatonic subtype, which were reported to be allelic diseases. Among a series of five patients with MLC, four mutant allel...

journal_title：Human mutation

authors： Rubie C,Lichtner P,Gärtner J,Siekiera M,Uziel G,Kohlmann B,Kohlschütter A,Meitinger T,Stöber G,Bettecken T

更新日期：2003-01-01 00:00:00

abstract：:Alpha-chain collagen molecules encoded by genes that include COL11A1 are essential for skeletal, ocular, and auditory function. COL11A1 variants have been reported in syndromes involving these organ systems. However, a description of the complete clinical spectrum is lacking, as evidenced by a recent association of au...

journal_title：Human mutation

authors： Rad A,Schade-Mann T,Gamerdinger P,Yanus GA,Schulte B,Müller M,Imyanitov EN,Biskup S,Löwenheim H,Tropitzsch A,Vona B

更新日期：2020-11-10 00:00:00

abstract：:High-throughput assays are essential for the practical application of mutation detection in medicine and research. Moreover, such assays should produce informative data of high quality that have a low-error rate and a low cost. Unfortunately, this is not currently the case. Instead, we typically witness legions of peo...

journal_title：Human mutation

authors： Perlin MW,Szabady B

更新日期：2002-04-01 00:00:00