ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

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：: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：:Multiple variants of the vascular adhesion molecule-1 (VCAM1) promoter show increased nucleotide heterozygosity in the African American population. Using a novel transfection-based transcriptional pathway profiling method, we show that select uncommon variants are functionally hyperactive. Eight candidate VCAM1 promot...

journal_title：Human mutation

authors： Idelman G,Taylor JG,Tongbai R,Chen RA,Haggerty CM,Bilke S,Chanock SJ,Gardner K

更新日期：2007-08-01 00:00:00

abstract：:In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS. Mutations were not detected in the coding region of the CDKN1C gene in any individual with BWS. However in two patients, two G/A base substitutions at adjace...

journal_title：Human mutation

authors： Algar E,Brickell S,Deeble G,Amor D,Smith P

更新日期：2000-01-01 00:00:00

abstract：:Two years after the first mutation on exon 7 in the carboxy-terminal part of the hinge domain (D) was reported (Behr and Loos 1992), we have identified the second mutation on exon 7 in patients with GRTH. Interestingly, our mutation it is not located in the two previously described "hot spot regions", but instead very...

journal_title：Human mutation

authors： Pohlenz J,Schönberger W,Wemme H,Winterpacht A,Wirth S,Zabel B

更新日期：1996-01-01 00:00:00

abstract：:Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. M...

journal_title：Human mutation

authors： Tümer Z

更新日期：2013-03-01 00:00:00

abstract：:Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach for the clinical molecular diagnostics of RP. All known inherited retina...

journal_title：Human mutation

authors： Neveling K,Collin RW,Gilissen C,van Huet RA,Visser L,Kwint MP,Gijsen SJ,Zonneveld MN,Wieskamp N,de Ligt J,Siemiatkowska AM,Hoefsloot LH,Buckley MF,Kellner U,Branham KE,den Hollander AI,Hoischen A,Hoyng C,Klevering BJ

更新日期：2012-06-01 00:00:00

abstract：:A broad region of chromosome 10 (chr10) has engendered continued interest in the etiology of late-onset Alzheimer Disease (LOAD) from both linkage and candidate gene studies. However, there is a very extensive heterogeneity on chr10. We converged linkage analysis and gene expression data using the concept of genomic c...

journal_title：Human mutation

authors： Liang X,Slifer M,Martin ER,Schnetz-Boutaud N,Bartlett J,Anderson B,Züchner S,Gwirtsman H,Gilbert JR,Pericak-Vance MA,Haines JL

更新日期：2009-03-01 00:00:00

abstract：:Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recess...

journal_title：Human mutation

authors： Yang CF,Wang CH,Siong H'ng W,Chang CP,Lin WD,Chen YT,Wu JY,Tsai FJ

更新日期：2017-05-01 00:00:00

abstract：:A third point mutation in the mitochondrial tRNA(Ile) gene associated with hypertrophic cardiomyopathy and respiratory chain dysfunction in heart is reported. An A-to-G transition at nucleotide position 4295 was shown to be highly evolutionarily conserved, never present in control individuals, and to segregate with th...

journal_title：Human mutation

authors： Merante F,Myint T,Tein I,Benson L,Robinson BH

更新日期：1996-01-01 00:00:00

abstract：:Expanded mutation detection and novel gene discovery for isolated polycystic liver disease (PCLD) are necessary as 50% of cases do not have identified mutations in the seven published disease genes. We investigated a family with five affected siblings for which no loss-of-function variants were identified by whole exo...

journal_title：Human mutation

authors： Besse W,Choi J,Ahram D,Mane S,Sanna-Cherchi S,Torres V,Somlo S

更新日期：2018-03-01 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：:Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of alpha-galactosidase A. The molecular defects of human alpha-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the genetic heter...

journal_title：Human mutation

authors： Chen CH,Shyu PW,Wu SJ,Sheu SS,Desnick RJ,Hsiao KJ

更新日期：1998-01-01 00:00:00

abstract：:Reliable identification of cancer-related mutations in TP53 is often problematic, as these mutations can be randomly distributed throughout numerous codons and their relative abundance in clinical samples can fall below the sensitivity limits of conventional sequencing. To ensure the highest sensitivity in mutation de...

journal_title：Human mutation

authors： Li J,Milbury CA,Li C,Makrigiorgos GM

更新日期：2009-11-01 00:00:00

abstract：:Insertion of endogenous retrotransposon sequences accounts for approximately 0.2% of disease causing mutations. These insertions are mediated by the reverse transcriptase and endonuclease activity of long interspersed nucleotide (LINE-1) elements. The factors that control the target site selection in insertional mutag...

journal_title：Human mutation

authors： Conley ME,Partain JD,Norland SM,Shurtleff SA,Kazazian HH Jr

更新日期：2005-03-01 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：:Human transforming growth factor β-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cell surface interactions could be the underlying cause for the progr...

journal_title：Human mutation

authors： Kheir V,Cortés-González V,Zenteno JC,Schorderet DF

更新日期：2019-06-01 00:00:00

abstract：:Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, tw...

journal_title：Human mutation

authors： Grigelioniené G,Hagenäs L,Eklöf O,Neumeyer L,Haereid PE,Anvret M

更新日期：1998-01-01 00:00:00

abstract：:The introduction of genome-wide arrays in postnatal and prenatal diagnosis raises challenging ethical issues. Here, we explore questions with regard to the ethics of consent. One important issue is whether informed consent for genome-wide array-based testing is in fact feasible, given the wide range of possible outcom...

journal_title：Human mutation

authors： Dondorp W,Sikkema-Raddatz B,de Die-Smulders C,de Wert G

更新日期：2012-06-01 00:00:00

abstract：:Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS. Useful genotype-phenotype correlations have been slow to emerge. We screened 57 unrelated ...

journal_title：Human mutation

authors： Biggin A,Holman K,Brett M,Bennetts B,Adès L

更新日期：2004-01-01 00:00:00

abstract：:Several sequence changes have been reported in hereditary angioedema patients in intron 2 of the SERPING1/C1NH gene, but their consequences on splicing have not been determined. We examined in cell transfection assays the consequences at the mRNA level of splicing mutations affecting either the +3 or the +5 donor site...

journal_title：Human mutation

authors： Duponchel C,Djenouhat K,Frémeaux-Bacchi V,Monnier N,Drouet C,Tosi M

更新日期：2006-03-01 00:00:00

abstract：:The p.Val754Met variant, described in 1996 in a CF patient, has been considered a CF mutation. However, biochemical aspects, results of functional studies and, finally, the identification of a complex deletion removing exons 3 to 10 and 14b to 16 in cis of p.Val754Met in a CF patient, argue against a strong deleteriou...

journal_title：Human mutation

authors： Niel F,Legendre M,Bienvenu T,Bieth E,Lalau G,Sermet I,Bondeux D,Boukari R,Derelle J,Levy P,Ruszniewski P,Martin J,Costa C,Goossens M,Girodon E

更新日期：2006-07-01 00:00:00

abstract：:Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 (KIAA0898) protein is located in peroxisomes. Ther...

journal_title：Human mutation

authors： Jagiello P,Hammans C,Wieczorek S,Arning L,Stefanski A,Strehl H,Epplen JT,Gencik M

更新日期：2003-06-01 00:00:00

abstract：:To date, over 40 different mutations in transthyretin (TTR) have been associated with amyloid deposition. The major unresolved problem is the correlation between the clinical heterogeneity and the genetic heterogeneity. For instance, whereas some mutations produce neuropathy and some give rise to cardiomyopathy, other...

journal_title：Human mutation

authors： Saraiva MJ

更新日期：1995-01-01 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：: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：:A strategy is described that exploits allele-specific amplification (ASA-PCR) and electrochemiluminescence (ECL) detection technology to rapidly and cheaply screen large numbers of DNAs arranged in pooled matrices in order to identify individual nucleotide sequence variants. To demonstrate this strategy, a large genom...

journal_title：Human mutation

authors： Bergen A,Wang CY,Nakhai B,Goldman D

更新日期：1996-01-01 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：:The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive catalytic site(s) ...

journal_title：Human mutation

authors： Lai K,Langley SD,Dembure PP,Hjelm LN,Elsas LJ 2nd

更新日期：1998-01-01 00:00:00

abstract：:The most common mutation in the nephropathic cystinosis (CTNS) gene is a homozygous 57-kb deletion that also includes an adjacent gene carbohydrate kinase-like (CARKL). The latter gene encodes a protein that is predicted to function as a carbohydrate kinase. Cystinosis patients with the common 57-kb deletion had stron...

journal_title：Human mutation

authors： Wamelink MM,Struys EA,Jansen EE,Levtchenko EN,Zijlstra FS,Engelke U,Blom HJ,Jakobs C,Wevers RA

更新日期：2008-04-01 00:00:00