Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.

abstract：:The maturity-onset diabetes of the young (MODY), an autosomal dominant form of non-insulin dependent diabetes mellitus (NIDDM), is caused by mutations in the glucokinase (GK, MODY 2) and in the hepatocyte nuclear factor 1a (MODY 3) and 4a (MODY 1) genes. We have screened the glucokinase gene by the polymerase chain re...

journal_title：Human mutation

authors： Guazzini B,Gaffi D,Mainieri D,Multari G,Cordera R,Bertolini S,Pozza G,Meschi F,Barbetti F

更新日期：1998-01-01 00:00:00

abstract：:Fcγ receptors are a family of cell-surface receptors that are expressed by a host of different innate and adaptive immune cells, and mediate inflammatory responses by binding the Fc portion of immunoglobulin G. In humans, five low-affinity receptors are encoded by the genes FCGR2A, FCGR2B, FCGR2C, FCGR3A, and FCGR3B, ...

journal_title：Human mutation

authors： Rahbari R,Zuccherato LW,Tischler G,Chihota B,Ozturk H,Saleem S,Tarazona-Santos E,Machado LR,Hollox EJ

更新日期：2017-04-01 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

abstract：:Although most of the pertinent data on the sequence-directed processes leading to genome rearrangements (GRs) have come from studies on somatic tissues, little is known about GRs in the germ line of patients with hereditary disorders. This study aims at identifying DNA motifs and higher order structures of genome arch...

journal_title：Human mutation

authors： Kovac MB,Kovacova M,Bachraty H,Bachrata K,Piscuoglio S,Hutter P,Ilencikova D,Bartosova Z,Tomlinson I,Roethlisberger B,Heinimann K

更新日期：2015-02-01 00:00:00

abstract：:DiGeorge (del22q11.2) syndrome is estimated to occur in 1:4,000 births, is the most common contiguous-gene deletion syndrome in humans, and is caused by autosomal dominant deletions in the 22q11.2 DiGeorge syndrome critical region (DGCR). Multiple microarray methods have been developed recently for analyzing such copy...

journal_title：Human mutation

authors： Stanczak CM,Chen Z,Nelson SF,Suchard M,McCabe ER,McGhee S

更新日期：2008-01-01 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：:The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African American patients share...

journal_title：Human mutation

authors： Raben N,Lee E,Lee L,Hirschhorn R,Plotz PH

更新日期：1999-01-01 00:00:00

abstract：:Microsatellite instability (MSI) is a hallmark of the DNA replication error phenotype, due to the inactivation of mismatch repair genes. MSI has been implicated in colon and many other gastrointestinal cancers. MSI usually can be analyzed by PCR amplification of microsatellite markers followed by electrophoresis and d...

journal_title：Human mutation

authors： Pan KF,Liu W,Lu YY,Zhang L,Li ZP,Lu WL,Thibodeau SN,You WC

更新日期：2003-11-01 00:00:00

abstract：:Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected. Most of the germline VHL mutations (124/137) occurred in 1-2 families; a few occured ...

journal_title：Human mutation

authors： Zbar B,Kishida T,Chen F,Schmidt L,Maher ER,Richards FM,Crossey PA,Webster AR,Affara NA,Ferguson-Smith MA,Brauch H,Glavac D,Neumann HP,Tisherman S,Mulvihill JJ,Gross DJ,Shuin T,Whaley J,Seizinger B,Kley N,Olschwang

更新日期：1996-01-01 00:00:00

abstract：:The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disability (ID) as the cardinal feature. Here, we review the increasing number of reported families and isolated cases have been reported with a variety of different pathogenic variants. The spectrum of clinical features is...

journal_title：Human mutation

authors： Shoubridge C,Harvey RJ,Dudding-Byth T

更新日期：2019-01-01 00:00:00

abstract：:Fabry disease is caused by mutations in the gene (GLA) that encodes α-galactosidase A (α-Gal A). The iminosugar AT1001 (GR181413A, migalastat hydrochloride, 1-deoxygalactonojirimycin) is a pharmacological chaperone that selectively binds and stabilizes α-Gal A, increasing total cellular levels and activity for some mu...

journal_title：Human mutation

authors： Wu X,Katz E,Della Valle MC,Mascioli K,Flanagan JJ,Castelli JP,Schiffmann R,Boudes P,Lockhart DJ,Valenzano KJ,Benjamin ER

更新日期：2011-08-01 00:00:00

abstract：:The evolutionary and biomedical importance of differential mRNA splicing is well established. Numerous studies have assessed patterns of differential splicing in different genes and correlated these patterns to the genotypes for adjacent single-nucleotide polymorphisms (SNPs). Here, we have chosen a reverse approach a...

journal_title：Human mutation

authors： ElSharawy A,Hundrieser B,Brosch M,Wittig M,Huse K,Platzer M,Becker A,Simon M,Rosenstiel P,Schreiber S,Krawczak M,Hampe J

更新日期：2009-04-01 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：:The genetic polymorphism of the thiopurine S-methyltransferase, TPMT, comprises at least 21 alleles causing three distinct drug metabolism phenotypes termed normal/high, intermediate, and deficient methylators. In consequence, adverse drug reactions may occur if standard doses of thiopurines are applied routinely. Gen...

journal_title：Human mutation

authors： Schaeffeler E,Eichelbaum M,Reinisch W,Zanger UM,Schwab M

更新日期：2006-09-01 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：:Cystic fibrosis, the most common lethal genetic disease in the white population, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Analysis of DNA from a pancreatic insufficient patient by chemical mismatch cleavage and subsequent DNA sequencing led to the identification of...

journal_title：Human mutation

authors： Strong TV,Smit LS,Nasr S,Wood DL,Cole JL,Iannuzzi MC,Stern RC,Collins FS

更新日期：1992-01-01 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：:The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syndrome. So far, the ...

journal_title：Human mutation

authors： Niesler B,Fischer C,Rappold GA

更新日期：2002-11-01 00:00:00

abstract：:Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease caused by impaired functioning of human liver aldolase (ALDOB). At least 54 subtle/point mutations and only two large intragenic deletions have been found in the ALDOB gene. Here we report two novel ALDOB variants (p.R46W and p.Y343H) an...

journal_title：Human mutation

authors： Esposito G,Imperato MR,Ieno L,Sorvillo R,Benigno V,Parenti G,Parini R,Vitagliano L,Zagari A,Salvatore F

更新日期：2010-12-01 00:00:00

abstract：:Neutrophil elastase gene (ELANE) mutations are responsible for the majority of cases of severe congenital neutropenia (CN) and cyclic neutropenia (CyN). We screened CN (n = 395) or CyN (n = 92) patients for ELANE mutations and investigated the impact of mutations on mRNA expression, protein expression, and activity. W...

journal_title：Human mutation

authors： Germeshausen M,Deerberg S,Peter Y,Reimer C,Kratz CP,Ballmaier M

更新日期：2013-06-01 00:00:00

abstract：:The 2011 annual scientific meeting of the Human Genome Variation Society (HGVS) was held on the 11th of October, in Montreal, Canada. The theme of this meeting was "Exome and Genome Analysis as a Tool for Disease Identification and Treatment." In the last few years, there has been a substantial increase in the use of ...

journal_title：Human mutation

authors： Oetting WS

更新日期：2012-03-01 00:00:00

abstract：:The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety-two different disease-associated mu...

journal_title：Human mutation

authors： Kraus JP,Janosík M,Kozich V,Mandell R,Shih V,Sperandeo MP,Sebastio G,de Franchis R,Andria G,Kluijtmans LA,Blom H,Boers GH,Gordon RB,Kamoun P,Tsai MY,Kruger WD,Koch HG,Ohura T,Gaustadnes M

更新日期：1999-01-01 00:00:00

abstract：:The cellular quality control systems enable surveillance and selective degradation of nonsense, nonstop, and no-go mRNAs. In the case of nonstop mRNA, different mechanisms of nonstop-mediated decay (NSD) have been described for bacteria, yeast and mammals, but the molecular consequences of nonstop mutations have been ...

journal_title：Human mutation

authors： Torres-Torronteras J,Rodriguez-Palmero A,Pinós T,Accarino A,Andreu AL,Pintos-Morell G,Martíí R

更新日期：2011-04-01 00:00:00

abstract：:We have investigated two unrelated males with X-linked deafness type 3 (DFN3) for mutations in the POU3F4 gene. In one patient, we observed a mutation that is predicted to result in an Arg330Ser amino acid substitution. In another DFN3 patient, a somatic mosaicism for an Arg323Gly amino acid substitution was found. Th...

journal_title：Human mutation

authors： de Kok YJ,Cremers CW,Ropers HH,Cremers FP

更新日期：1997-01-01 00:00:00

abstract：:Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. Various mutations have been identified in the RPS19 gene, but no investigations regarding the effect of these a...

journal_title：Human mutation

authors： Chatr-Aryamontri A,Angelini M,Garelli E,Tchernia G,Ramenghi U,Dianzani I,Loreni F

更新日期：2004-12-01 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：: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：:Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All th...

journal_title：Human mutation

authors： Zielenski J,Markiewicz D,Chen HS,Schappert K,Seller A,Durie P,Corey M,Tsui LC

更新日期：1995-01-01 00:00:00

abstract：:alpha 1-Antitrypsin (alpha 1AT) is one of the most polymorphic gene loci in the human genome. alpha 1AT variants are typically identified by their migration position in an isoelectric focusing gel at pH 4-5. Heterogeneity of the isoelectric point of alpha 1AT variants, hence variant migration, most often results from ...

journal_title：Human mutation

authors： Hildesheim J,Kinsley G,Bissell M,Pierce J,Brantly M

更新日期：1993-01-01 00:00:00

abstract：:A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants ...

journal_title：Human mutation

authors： Lambrechts D,Truong T,Justenhoven C,Humphreys MK,Wang J,Hopper JL,Dite GS,Apicella C,Southey MC,Schmidt MK,Broeks A,Cornelissen S,van Hien R,Sawyer E,Tomlinson I,Kerin M,Miller N,Milne RL,Zamora MP,Pérez JI,Beníte

更新日期：2012-07-01 00:00:00