GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

abstract：:Hereditary hemorrhagic telangiectasia (HHT), or Osler-Rendu-Weber syndrome, is a heterogeneous inherited disorder characterized by multi-systemic vascular dysplasia and wide variation in its phenotypic expression. Hepatic manifestation is seen in about 8 to 30 % of the patients. The molecular basis for liver involveme...

journal_title：Human mutation

authors： Kuehl HK,Caselitz M,Hasenkamp S,Wagner S,El-Harith el-HA,Manns MP,Stuhrmann M

更新日期：2005-03-01 00:00:00

abstract：:The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain development. Heterozygous pathogenic variants in this gene are inherited in an unusual X-linked dominant pattern in which heterozygous females are affected, while hemizygous males are t...

journal_title：Human mutation

authors： Niazi R,Fanning EA,Depienne C,Sarmady M,Abou Tayoun AN

更新日期：2019-03-01 00:00:00

abstract：:The Human Genome Variation Society annual scientific meeting was held on 26 October 2004 in Toronto, Canada, and attracted 85 registrants. Meeting participants from 14 countries reported on the recent advances and progress made toward the detection, analysis, and documentation of genetic variation. Reports were made o...

journal_title：Human mutation

authors： Oetting WS,Tabone T

更新日期：2005-08-01 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：:The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with mutations in the gene encoding the enzyme uroporphyrinogen decarboxylase (UROD). Several mutations, most of which are private, have been identified in HEP and fPCT patients, confirming the heteroge...

journal_title：Human mutation

authors： Christiansen L,Ged C,Hombrados I,Brons-Poulsen J,Fontanellas A,de Verneuil H,Hørder M,Petersen NE

更新日期：1999-01-01 00:00:00

abstract：:SNPs from the non-recombining part of the human Y chromosome (Y-SNPs) are informative to classify paternal lineages in forensic, genealogical, anthropological, and evolutionary studies. Although thousands of Y-SNPs were identified thus far, previous Y-SNP multiplex tools target only dozens of markers simultaneously, t...

journal_title：Human mutation

authors： Ralf A,van Oven M,Zhong K,Kayser M

更新日期：2015-01-01 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：:We report a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). We describe two probands: one with a de novo frameshift (NM_002140.3: c.953+1dup), and the other with a de novo splice donor site variant (NM_002140.3: c.257G>A). Both probands have intellectual di...

journal_title：Human mutation

authors： Au PYB,You J,Caluseriu O,Schwartzentruber J,Majewski J,Bernier FP,Ferguson M,Care for Rare Canada Consortium.,Valle D,Parboosingh JS,Sobreira N,Innes AM,Kline AD

更新日期：2015-10-01 00:00:00

abstract：:We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families. Novel mutations were found in two of these families. The third is a previously reported mutation (G-->A transition at nt 1444) (Nakano et al., 1988). Direct sequencing of PCR produc...

journal_title：Human mutation

authors： Akalin N,Shi HP,Vavougios G,Hechtman P,Lo W,Scriver CR,Mahuran D,Kaplan F

更新日期：1992-01-01 00:00:00

abstract：:New technologies allow rapid discovery of novel sequence variants among which those involving complex structural rearrangements. The description of such complex variants challenges the existing standard sequence variation nomenclature of the Human Genome Variation Society (HGVS, http://www.hgvs.org/mutnomen), because ...

journal_title：Human mutation

authors： Taschner PE,den Dunnen JT

更新日期：2011-05-01 00:00:00

abstract：:We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described. HPRT Zaragoza II (...

journal_title：Human mutation

authors： Torres RJ,Mateos FA,Molano J,Gathoff BS,O'Neill JP,Gundel RM,Trombley L,Puig JG

更新日期：2000-04-01 00:00:00

abstract：:The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. This frequency distribution is significant...

journal_title：Human mutation

authors： Menzel HJ,Dieplinger H,Sandholzer C,Karádi I,Utermann G,Császár A

更新日期：1995-01-01 00:00:00

abstract：:Mucopolysaccharidosis type IIIA (MPSIIIA) is an autosomal recessive lysosomal storage disease caused by mutations in the N-sulfoglucosamine sulfohydrolase gene (SGSH; encoding sulfamidase, also sulphamidase) leading to the lysosomal accumulation and urinary excretion of heparan sulfate. Considerable variation in the o...

journal_title：Human mutation

authors： Muschol N,Storch S,Ballhausen D,Beesley C,Westermann JC,Gal A,Ullrich K,Hopwood JJ,Winchester B,Braulke T

更新日期：2004-06-01 00:00:00

abstract：:Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T and a new somatic ...

journal_title：Human mutation

authors： Ruiz-Ponte C,Vega A,Carracedo A,Barros F

更新日期：2001-10-01 00:00:00

abstract：:Sterol regulatory element binding protein 1 (SREBP-1) transcription factors play a key role in energy homeostasis by regulating genes involved in both carbohydrate and lipid metabolism, and in adipocyte differentiation. The 5' end of the mRNA-encoding SREBP-1 exists in two forms, designated 1a and 1c. The divergence r...

journal_title：Human mutation

authors： Vernia S,Eberlé D,Hernandez Mijares A,Foufelle F,Casado M

更新日期：2006-02-01 00:00:00

abstract：:The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and five relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to: 1) more ...

journal_title：Human mutation

authors： Kamath BM,Thiel BD,Gai X,Conlin LK,Munoz PS,Glessner J,Clark D,Warthen DM,Shaikh TH,Mihci E,Piccoli DA,Grant SF,Hakonarson H,Krantz ID,Spinner NB

更新日期：2009-03-01 00:00:00

abstract：:Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low-density cholesterol modulation. Potential interaction between APO...

journal_title：Human mutation

authors： McKay GJ,Patterson CC,Chakravarthy U,Dasari S,Klaver CC,Vingerling JR,Ho L,de Jong PT,Fletcher AE,Young IS,Seland JH,Rahu M,Soubrane G,Tomazzoli L,Topouzis F,Vioque J,Hingorani AD,Sofat R,Dean M,Sawitzke J,Seddon

更新日期：2011-12-01 00:00:00

abstract：:Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. We investigated 125 sporadic cases of Rett syndrome by direct sequencing. Thirty different mutations were found in 97 patients with Rett syndrome. Seventee...

journal_title：Human mutation

authors： Laccone F,Huppke P,Hanefeld F,Meins M

更新日期：2001-03-01 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：:Mucopolysaccharidosis (MPS) describes any inherited lysosomal storage disorder resulting from an inability to catabolize glycosaminoglycans. MPS III (or Sanfilippo syndrome) is an autosomal recessive disease caused by a failure to degrade heparan sulphate. There are four subtypes of MPS III, each categorized by a defi...

journal_title：Human mutation

authors： Fedele AO,Filocamo M,Di Rocco M,Sersale G,Lübke T,di Natale P,Cosma MP,Ballabio A

更新日期：2007-05-01 00:00:00

abstract：:Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Forty-nine differ...

journal_title：Human mutation

authors： Eng CM,Desnick RJ

更新日期：1994-01-01 00:00:00

abstract：:Genes and proteins are known to have differences in their sensitivity to alterations. Despite numerous sequencing studies, proportions of harmful and harmless substitutions are not known for proteins and groups of proteins. To address this question, we predicted the outcome for all possible single amino acid substitut...

journal_title：Human mutation

authors： Schaafsma GCP,Vihinen M

更新日期：2017-07-01 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：: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：:Primary vesicoureteral reflux (pVUR) is a common, genetically heterogeneous congenital urinary tract abnormality in children. It causes urine to flow backward from the bladder to the ureter due to a developmental defect at the vesicoureteral junction, whose formation requires rearrangement during transformation (Ret)-...

journal_title：Human mutation

authors： Yang Y,Houle AM,Letendre J,Richter A

更新日期：2008-05-01 00:00:00

abstract：:A large number of sequence variants identified in BRCA1 and BRCA2 cannot be distinguished as either disease-causing mutations or neutral variants. These so-called unclassified variants (UVs) include variants that are located in the intronic sequences of BRCA1 and BRCA2. The purpose of this study was to assess the use ...

journal_title：Human mutation

authors： Vreeswijk MP,Kraan JN,van der Klift HM,Vink GR,Cornelisse CJ,Wijnen JT,Bakker E,van Asperen CJ,Devilee P

更新日期：2009-01-01 00:00:00

abstract：:Mutations in matrilin-3 have been associated with common skeletal diseases like osteoarthritis as well as with the rare chondrodysplasias MED and SEMD. We have previously shown that the mutations p.R116W and p.C299S, associated with MED and SEMD, respectively, cause retention of matrilin-3 within the endoplasmic retic...

journal_title：Human mutation

authors： Otten C,Hansen U,Talke A,Wagener R,Paulsson M,Zaucke F

更新日期：2010-03-01 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：: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 CAGI-5 pericentriolar material 1 (PCM1) challenge aimed to predict the effect of 38 transgenic human missense mutations in the PCM1 protein implicated in schizophrenia. Participants were provided with 16 benign variants (negative controls), 10 hypomorphic, and 12 loss of function variants. Six groups participated ...

journal_title：Human mutation

authors： Monzon AM,Carraro M,Chiricosta L,Reggiani F,Han J,Ozturk K,Wang Y,Miller M,Bromberg Y,Capriotti E,Savojardo C,Babbi G,Martelli PL,Casadio R,Katsonis P,Lichtarge O,Carter H,Kousi M,Katsanis N,Andreoletti G,Moult J

更新日期：2019-09-01 00:00:00