MEFV mutations in Behçet's disease.

abstract：:Cytogenetically detected inversions are generally assumed to be copy number and phenotypically neutral events. While nonallelic homologous recombination is thought to play a major role, recent data suggest the involvement of other molecular mechanisms in inversion formation. Using a combination of short-read whole-gen...

journal_title：Human mutation

authors： Pettersson M,Grochowski CM,Wincent J,Eisfeldt J,Breman AM,Cheung SW,Krepischi ACV,Rosenberg C,Lupski JR,Ottosson J,Lovmar L,Gacic J,Lundberg ES,Nilsson D,Carvalho CMB,Lindstrand A

更新日期：2020-11-01 00:00:00

abstract：:We participated in the Critical Assessment of Genome Interpretation eQTL challenge to further test computational models of regulatory variant impact and their association with human disease. Our prediction model is based on a discriminative gapped-kmer SVM (gkm-SVM) trained on genome-wide chromatin accessibility data ...

journal_title：Human mutation

authors： Beer MA

更新日期：2017-09-01 00:00:00

abstract：:Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy, intermediate phenotypes, to the milder Bethlem myopathy. Both inter- and intrafamilial variable expressivity are commonly observed. We presen...

journal_title：Human mutation

authors： Donkervoort S,Hu Y,Stojkovic T,Voermans NC,Foley AR,Leach ME,Dastgir J,Bolduc V,Cullup T,de Becdelièvre A,Yang L,Su H,Meilleur K,Schindler AB,Kamsteeg EJ,Richard P,Butterfield RJ,Winder TL,Crawford TO,Weiss RB,Mun

更新日期：2015-01-01 00:00:00

abstract：:Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutat...

journal_title：Human mutation

authors： van den Hurk JA,Schwartz M,van Bokhoven H,van de Pol TJ,Bogerd L,Pinckers AJ,Bleeker-Wagemakers EM,Pawlowitzki IH,Rüther K,Ropers HH,Cremers FP

更新日期：1997-01-01 00:00:00

abstract：:Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and pr...

journal_title：Human mutation

authors： Has C,Castiglia D,del Rio M,Diez MG,Piccinni E,Kiritsi D,Kohlhase J,Itin P,Martin L,Fischer J,Zambruno G,Bruckner-Tuderman L

更新日期：2011-11-01 00:00:00

abstract：:Cerebro-costo-mandibular syndrome (CCMS) is a developmental disorder characterized by the association of Pierre Robin sequence and posterior rib defects. Exome sequencing and Sanger sequencing in five unrelated CCMS patients revealed five heterozygous variants in the small nuclear ribonucleoprotein polypeptides B and ...

journal_title：Human mutation

authors： Bacrot S,Doyard M,Huber C,Alibeu O,Feldhahn N,Lehalle D,Lacombe D,Marlin S,Nitschke P,Petit F,Vazquez MP,Munnich A,Cormier-Daire V

更新日期：2015-02-01 00:00:00

abstract：:We previously identified the polymorphism ss52051869 in the 3'UTR of human SLC7A1, and demonstrated that it might participate in the apparent link between altered endothelial function, decreased L-arginine and nitric oxide (NO) metabolism, and a genetic predisposition to essential hypertension. Here, we demonstrate th...

journal_title：Human mutation

authors： Yang Z,Kaye DM

更新日期：2009-03-01 00:00:00

abstract：:Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8). So far, 20 mutations in the SLC6A8 gene have been described. We have developed a diagnostic assay to test creatine uptake in fibroblasts. Additionally, we expanded the assay to char...

journal_title：Human mutation

authors： Rosenberg EH,Martínez Muñoz C,Betsalel OT,van Dooren SJ,Fernandez M,Jakobs C,deGrauw TJ,Kleefstra T,Schwartz CE,Salomons GS

更新日期：2007-09-01 00:00:00

abstract：:Generalized glucocorticoid resistance is associated with glucocorticoid receptor (GR; NR3C1) mutations. Three novel heterozygous missense NR3C1 mutations (R477S, Y478C, and L672P) were identified in patients presenting with adrenal incidentalomas, glucocorticoid excess without Cushing syndrome. Dexamethasone (DXM) bin...

journal_title：Human mutation

authors： Vitellius G,Fagart J,Delemer B,Amazit L,Ramos N,Bouligand J,Le Billan F,Castinetti F,Guiochon-Mantel A,Trabado S,Lombès M

更新日期：2016-08-01 00:00:00

abstract：:Linkage studies have provided evidence that one or more loci on chromosome 9q influence Alzheimer disease (AD). The gene encoding the ATP-binding cassette A1 transporter (ABCA1) resides within proximity of previously identified linkage peaks and represents a plausible biological candidate for AD due to its central rol...

journal_title：Human mutation

authors： Katzov H,Chalmers K,Palmgren J,Andreasen N,Johansson B,Cairns NJ,Gatz M,Wilcock GK,Love S,Pedersen NL,Brookes AJ,Blennow K,Kehoe PG,Prince JA

更新日期：2004-04-01 00:00:00

abstract：:We report the largest international study on Glanzmann thrombasthenia (GT), an inherited bleeding disorder where defects of the ITGA2B and ITGB3 genes cause quantitative or qualitative defects of the αIIbβ3 integrin, a key mediator of platelet aggregation. Sequencing of the coding regions and splice sites of both gene...

journal_title：Human mutation

authors： Nurden AT,Pillois X,Fiore M,Alessi MC,Bonduel M,Dreyfus M,Goudemand J,Gruel Y,Benabdallah-Guerida S,Latger-Cannard V,Négrier C,Nugent D,Oiron RD,Rand ML,Sié P,Trossaert M,Alberio L,Martins N,Sirvain-Trukniewicz P,Co

更新日期：2015-05-01 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：:In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion. The two other siblings, apparently healthy at 12(1/2) and 15 years, respectively, and their ...

journal_title：Human mutation

authors： Berger J,Gmach M,Mayr U,Molzer B,Bernheimer H

更新日期：1999-01-01 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：: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：:Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation in the TRIM32 gene in chromosome region 9q32, causing LGMD2H in approximately two-thirds of the 60 Hutterite LGMD patients studied to date. A genomewide scan was undertaken in five families...

journal_title：Human mutation

authors： Frosk P,Greenberg CR,Tennese AA,Lamont R,Nylen E,Hirst C,Frappier D,Roslin NM,Zaik M,Bushby K,Straub V,Zatz M,de Paula F,Morgan K,Fujiwara TM,Wrogemann K

更新日期：2005-01-01 00:00:00

abstract：:The ATM gene is mutated in ataxia-telangiectasia (AT). Heterozygote female relatives of AT cases have a 2-7fold increased risk of breast cancer. We previously reported high risks of breast cancer associated with certain ATM variants. To estimate the risks more precisely, we have examined two ATM variants, c.1066-6T>G ...

journal_title：Human mutation

authors： Thompson D,Antoniou AC,Jenkins M,Marsh A,Chen X,Wayne T,Tesoriero A,Milne R,Spurdle A,Thorstenson Y,Southey M,Giles GG,Khanna KK,Sambrook J,Oefner P,Goldgar D,Hopper JL,Easton D,Chenevix-Trench G,KConFab Investigato

更新日期：2005-06-01 00:00:00

abstract：:Phosphoglycerate kinase (PGK) is a X-linked enzyme that plays a key role in the glycolytic pathway. Twelve different variants have already been reported. We describe a new PGK variant, PGK Herlev (Asp 285-->Val), in a 69-year-old Danish patient with isolated chronic hemolysis but who had no neurological or muscular di...

journal_title：Human mutation

authors： Valentin C,Birgens H,Craescu CT,Brødum-Nielsen K,Cohen-Solal M

更新日期：1998-01-01 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：: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：:Neurofibromatosis type 1 (NF1), an autosomal dominantly-inherited disorder, is mainly characterized by the occurrence of multiple dermal neurofibromas and is caused by mutations in the NF1 gene, a tumor suppressor gene. The variable expressivity of the disease and the lack of a genotype/phenotype correlation prevents ...

journal_title：Human mutation

authors： Wiest V,Eisenbarth I,Schmegner C,Krone W,Assum G

更新日期：2003-12-01 00:00:00

abstract：:Welander distal myopathy (WDM) is an adult onset autosomal dominant disorder characterized by distal limb weakness, which progresses slowly from the fifth decade. All WDM patients are of Swedish or Finnish descent and share a rare chromosome 2p13 haplotype. We restricted the WDM-associated haplotype followed by whole ...

journal_title：Human mutation

authors： Klar J,Sobol M,Melberg A,Mäbert K,Ameur A,Johansson AC,Feuk L,Entesarian M,Orlén H,Casar-Borota O,Dahl N

更新日期：2013-04-01 00:00:00

abstract：:Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21.3 kb deletion, the deletion consensus motif (5'-TGAAGG-3') and polypurine runs, known as the arrest ...

journal_title：Human mutation

authors： Demura M,Takeda Y,Yoneda T,Furukawa K,Usukura M,Itoh Y,Mabuchi H

更新日期：2002-01-01 00:00:00

abstract：:Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expanded the spectrum of S...

journal_title：Human mutation

authors： Tessa A,Fiermonte G,Dionisi-Vici C,Paradies E,Baumgartner MR,Chien YH,Loguercio C,de Baulny HO,Nassogne MC,Schiff M,Deodato F,Parenti G,Rutledge SL,Vilaseca MA,Melone MA,Scarano G,Aldamiz-Echevarría L,Besley G,Walter

更新日期：2009-05-01 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：:Wolfram syndrome (WS) is the inherited association of juvenile-onset insulin-dependant diabetes mellitus and progressive bilateral optic atrophy. A nuclear gene, WFS1/wolframin, was identified that segregated with disease status and demonstrated an autosomal recessive mode of inheritance. Mutation analysis of the WFS1...

journal_title：Human mutation

authors： Khanim F,Kirk J,Latif F,Barrett TG

更新日期：2001-05-01 00:00:00

abstract：:About 85% of Alport syndrome is an X-linked semi-dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of this gene have presented diagnostic laboratories with problems in identifying mutations with greater than about a 50% success rate since the gene was first cloned ...

journal_title：Human mutation

authors： King K,Flinter FA,Green PM

更新日期：2006-10-01 00:00:00

abstract：:Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. We describe a novel missense mutation in exon 6 causing the substitution of Asp335 by Val. In transient transfections no enzyme activity could be expressed from the arylsulfatase A cDNA carrying this mutation. Exa...

journal_title：Human mutation

authors： Hess B,Kafert S,Heinisch U,Wenger DA,Zlotogora J,Gieselmann V

更新日期：1996-01-01 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：:Mutations in the SCN1A gene have been identified in epilepsy patients with widely variable phenotypes and modes of inheritance and in asymptomatic carriers. This raises challenges in evaluating the pathogenicity of SCN1A mutations. We systematically reviewed all SCN1A mutations and established a database containing in...

journal_title：Human mutation

authors： Meng H,Xu HQ,Yu L,Lin GW,He N,Su T,Shi YW,Li B,Wang J,Liu XR,Tang B,Long YS,Yi YH,Liao WP

更新日期：2015-06-01 00:00:00