Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutation.

abstract：BACKGROUND:Recent genome-wide association (GWA) studies have identified several unsuspected genes associated with type 2 diabetes (T2D) with previously unknown functions. In this investigation, we have examined the role of 9 most significant SNPs reported in GWA studies: [peroxisome proliferator-activated receptor gamm...

journal_title：BMC medical genetics

authors： Sanghera DK,Ortega L,Han S,Singh J,Ralhan SK,Wander GS,Mehra NK,Mulvihill JJ,Ferrell RE,Nath SK,Kamboh MI

更新日期：2008-07-03 00:00:00

abstract：BACKGROUND:Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation ...

journal_title：BMC medical genetics

authors： Nonose RW,Lezirovitz K,de Mello Auricchio MTB,Batissoco AC,Yamamoto GL,Mingroni-Netto RC

更新日期：2018-05-08 00:00:00

abstract：BACKGROUND:Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. ...

journal_title：BMC medical genetics

authors： Hu Q,Liu J,Wang Y,Wang J,Shi H,Sun Y,Wu X,Yang C,Teng J

更新日期：2017-12-15 00:00:00

abstract：BACKGROUND:Analyses of Expressed Sequence Tags (ESTs) databases suggest that most human genes have multiple alternative splice variants. The alternative splicing of pre-mRNA is tightly regulated during development and in different tissue types. Changes in splicing patterns have been described in disease states. Recentl...

journal_title：BMC medical genetics

authors： Dong L,Jensen RV,De Rienzo A,Gordon GJ,Xu Y,Sugarbaker DJ,Bueno R

更新日期：2009-12-31 00:00:00

abstract：BACKGROUND:DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous system damage in different neurodegenerative disorders including Alzheimer's disease and Parkinson's ...

journal_title：BMC medical genetics

authors： Keyser RJ,van der Merwe L,Venter M,Kinnear C,Warnich L,Carr J,Bardien S

更新日期：2009-10-13 00:00:00

abstract：BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was ...

journal_title：BMC medical genetics

authors： Venugopal P,Gagliardi L,Forsyth C,Feng J,Phillips K,Babic M,Poplawski NK,Rienhoff HY Jr,Schreiber AW,Hahn CN,Brown AL,Scott HS

更新日期：2020-02-17 00:00:00

abstract：BACKGROUND:Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal an...

journal_title：BMC medical genetics

authors： Geelhoed MJ,Steegers EA,Koper JW,van Rossum EF,Moll HA,Raat H,Tiemeier H,Hofman A,Jaddoe VW

更新日期：2010-03-03 00:00:00

abstract：BACKGROUND:Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION:The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were d...

journal_title：BMC medical genetics

authors： Sanchez-Lechuga B,Saqlain M,Ng N,Colclough K,Woods C,Byrne M

更新日期：2020-04-03 00:00:00

abstract：BACKGROUND:RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of...

journal_title：BMC medical genetics

authors： Núñez-Torres R,Fernández RM,Acosta MJ,Enguix-Riego Mdel V,Marbá M,Carlos de Agustín J,Castaño L,Antiñolo G,Borrego S

更新日期：2011-10-13 00:00:00

abstract：BACKGROUND:Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory investigations could be diagnosed without the requirement of any additional tests, including geneti...

journal_title：BMC medical genetics

authors： Shen H,Huang H,Luo K,Yi Y,Shi X

更新日期：2019-05-24 00:00:00

abstract：BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases ...

journal_title：BMC medical genetics

authors： Albiñana V,Zafra MP,Colau J,Zarrabeitia R,Recio-Poveda L,Olavarrieta L,Pérez-Pérez J,Botella LM

更新日期：2017-02-23 00:00:00

abstract：BACKGROUND:Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION:Family members underwent audiological and imaging evaluations, including pure tone audiometry ...

journal_title：BMC medical genetics

authors： Choi HJ,Lee JS,Yu S,Cha DH,Gee HY,Choi JY,Lee JD,Jung J

更新日期：2017-12-19 00:00:00

abstract：BACKGROUND:Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is charact...

journal_title：BMC medical genetics

authors： Mußotter T,Kluwe L,Högel J,Nguyen R,Cooper DN,Mautner VF,Kehrer-Sawatzki H

更新日期：2012-10-26 00:00:00

abstract：BACKGROUND:Southern China provinces have high incidence of thalassemia, however, sporadic cases can be found in northern China as well. METHODS:People resided in north China who were suspected to have thalassemia were detected mutations by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB) analyses. Th...

journal_title：BMC medical genetics

authors： Yang Z,Zhou W,Cui Q,Qiu L,Han B

更新日期：2019-05-22 00:00:00

abstract：BACKGROUND:Schizophrenia is a highly heritable complex psychiatric disorder with an underlying pathophysiology that is still not well understood. Metaanalyses of schizophrenia linkage studies indicate numerous but rather large disease-associated genomic regions, whereas accumulating gene- and protein expression studies...

journal_title：BMC medical genetics

authors： Olsen L,Hansen T,Jakobsen KD,Djurovic S,Melle I,Agartz I,Hall H,Ullum H,Timm S,Wang AG,Jönsson EG,Andreassen OA,Werge T

更新日期：2008-05-06 00:00:00

abstract：BACKGROUND:Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondria...

journal_title：BMC medical genetics

authors： Zhang C,Deng X,Wen Y,He F,Yin F,Peng J

更新日期：2020-11-26 00:00:00

abstract：BACKGROUND:Sequence variants in genes functioning in folate-mediated one-carbon metabolism are hypothesized to lead to changes in levels of homocysteine and DNA methylation, which, in turn, are associated with risk of cardiovascular disease. METHODS:330 SNPs in 52 genes were studied in relation to plasma homocysteine ...

journal_title：BMC medical genetics

authors： Wernimont SM,Clark AG,Stover PJ,Wells MT,Litonjua AA,Weiss ST,Gaziano JM,Tucker KL,Baccarelli A,Schwartz J,Bollati V,Cassano PA

更新日期：2011-11-21 00:00:00

abstract：BACKGROUND:Germline genetic testing for familial cancer syndromes is usually performed serially for the most likely genetic causes. In recent years the way genetic testing carried out has changed, as next generation sequencing now allows the simultaneous testing of multiple susceptibility genes at low costs. CASE PRES...

journal_title：BMC medical genetics

authors： Heitzer E,Lax S,Lafer I,Müller SM,Pristauz G,Ulz P,Jahn S,Högenauer C,Petru E,Speicher MR,Geigl JB

更新日期：2013-12-29 00:00:00

abstract：BACKGROUND:Variants in the FTO gene have been associated with obesity in children, but this association has not been shown with other biomarkers. We assessed the association of 52 FTO polymorphisms, spanning the whole gene, with obesity and estimated the influence of these polymorphisms on anthropometric, clinical and ...

journal_title：BMC medical genetics

authors： Olza J,Ruperez AI,Gil-Campos M,Leis R,Fernandez-Orth D,Tojo R,Cañete R,Gil A,Aguilera CM

更新日期：2013-12-01 00:00:00

abstract：BACKGROUND:Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC)...

journal_title：BMC medical genetics

authors： Sajjadi-Jazi SM,Soltani A,Enayati S,Kakavand Hamidi A,Amoli MM

更新日期：2019-08-16 00:00:00

abstract：BACKGROUND:The TPH2 gene encodes the enzyme responsible for serotonin (5-HT) synthesis in the Central Nervous System (CNS). Stereotypic and repetitive behaviors are influenced by 5-HT, and initial studies report an association of TPH2 alleles with childhood-onset obsessive-compulsive disorder (OCD) and with autism. GLO...

journal_title：BMC medical genetics

authors： Sacco R,Papaleo V,Hager J,Rousseau F,Moessner R,Militerni R,Bravaccio C,Trillo S,Schneider C,Melmed R,Elia M,Curatolo P,Manzi B,Pascucci T,Puglisi-Allegra S,Reichelt KL,Persico AM

更新日期：2007-03-08 00:00:00

abstract：BACKGROUND:This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute rejection in the recipients with renal transplantation. METHODS:Relevant studies were searched and iden...

journal_title：BMC medical genetics

authors： Li HY,Zhou T,Lin S,Lin W

更新日期：2019-06-25 00:00:00

abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat that maps to...

journal_title：BMC medical genetics

authors： Bohlega S,Al Shubili A,Edris A,Alreshaid A,Alkhairallah T,AlSous MW,Farah S,Abu-Amero KK

更新日期：2007-11-09 00:00:00

abstract：BACKGROUND:The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a s...

journal_title：BMC medical genetics

authors： Shah SS,Macharia A,Makale J,Uyoga S,Kivinen K,Craik R,Hubbart C,Wellems TE,Rockett KA,Kwiatkowski DP,Williams TN

更新日期：2014-09-09 00:00:00

abstract：BACKGROUND:Neuron-derived orphan receptor (Nor) 1, nuclear receptor (Nur) 77, and nuclear receptor-related protein (Nurr) 1 constitute the NR4A family of orphan nuclear receptors which were recently found to modulate hepatic glucose production, insulin signalling in adipocytes, and oxidative metabolism in skeletal musc...

journal_title：BMC medical genetics

authors： Weyrich P,Staiger H,Stancáková A,Schäfer SA,Kirchhoff K,Ullrich S,Ranta F,Gallwitz B,Stefan N,Machicao F,Kuusisto J,Laakso M,Fritsche A,Häring HU

更新日期：2009-08-14 00:00:00

abstract：BACKGROUND:Mitochondrial disorders are difficult to diagnose due to extreme genetic and phenotypic heterogeneities. METHODS:We explored the utility of targeted next-generation sequencing for the diagnosis of mitochondrial disorders in 148 patients submitted for clinical testing. A panel of 447 nuclear genes encoding m...

journal_title：BMC medical genetics

authors： DaRe JT,Vasta V,Penn J,Tran NT,Hahn SH

更新日期：2013-11-11 00:00:00

abstract：BACKGROUND:Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. METHODS:We used genome-wide linkage analysis and whole-exome sequencing in c...

journal_title：BMC medical genetics

authors： Tan Z,Zeng H,Xu Z,Tian Q,Gao X,Zhou C,Zheng Y,Wang J,Ling G,Wang B,Yang Y,Ma L

更新日期：2018-07-05 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The MHC class II transactivator (MHC2TA) is the master controller of expression of class II genes, and methylation of the promoter of this gene has been pre...

journal_title：BMC medical genetics

authors： Ramagopalan SV,Dyment DA,Morrison KM,Herrera BM,Deluca GC,Lincoln MR,Orton SM,Handunnetthi L,Chao MJ,Sadovnick AD,Ebers GC

更新日期：2008-07-07 00:00:00

abstract：BACKGROUND:Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment and follow-up. A recent genome-wide association study revealed four genetic loci, which were associated...

journal_title：BMC medical genetics

authors： Hertel JK,Johansson S,Ræder H,Platou CG,Midthjell K,Hveem K,Molven A,Njølstad PR

更新日期：2011-02-04 00:00:00

abstract：BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...

journal_title：BMC medical genetics

authors： Pacho A,Mancebo E,del Rey MJ,Castro MJ,Oliver D,García-Berciano M,González L,Morales P

更新日期：2004-10-21 00:00:00