Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.

abstract：BACKGROUND:Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been prop...

journal_title：BMC medical genetics

authors： Hanaei S,Abdollahzade S,Sadr M,Mirbolouk MH,Fattahi E,Khoshnevisan A,Rezaei N

更新日期：2020-07-03 00:00:00

abstract：BACKGROUND:Insulin secretion is enhanced upon the binding of Glucagon-like peptide-1 (GLP-1) to its receptor (GLP1R) in pancreatic β cells. Although a reduced expression of GLP1R in pancreatic islets from type 2 diabetic patients and hyperglycaemic rats has been established, it is still unknown if this is caused by dif...

journal_title：BMC medical genetics

authors： Hall E,Dayeh T,Kirkpatrick CL,Wollheim CB,Dekker Nitert M,Ling C

更新日期：2013-07-23 00:00:00

abstract：BACKGROUND:Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1. Heterozygous LEMD3 gene mutations were shown to be the primary cause of th...

journal_title：BMC medical genetics

authors： Baasanjav S,Jamsheer A,Kolanczyk M,Horn D,Latos T,Hoffmann K,Latos-Bielenska A,Mundlos S

更新日期：2010-07-09 00:00:00

abstract：BACKGROUND:Despite the important role of the nerve growth factor in the survival and maintenance of neurons in ischemic stroke, data regarding the relationships between variations in the encoding gene and stroke are lacking. In the present study, we evaluated the association of the functional polymorphisms in NGF (rs63...

journal_title：BMC medical genetics

authors： Stepanyan A,Zakharyan R,Simonyan A,Tsakanova G,Arakelyan A

更新日期：2018-03-02 00:00:00

abstract：BACKGROUND:Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymo...

journal_title：BMC medical genetics

authors： Lindholm H,Morrison I,Krettek A,Malm D,Novembre G,Handlin L

更新日期：2020-09-21 00:00:00

abstract：BACKGROUND:In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a compensatory mechanism that does not appear to occur in the heart of affected individuals. METHODS:We qu...

journal_title：BMC medical genetics

authors： Neri M,Valli E,Alfano G,Bovolenta M,Spitali P,Rapezzi C,Muntoni F,Banfi S,Perini G,Gualandi F,Ferlini A

更新日期：2012-03-28 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:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...

journal_title：BMC medical genetics

authors： Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

更新日期：2019-11-21 00:00:00

abstract：BACKGROUND:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have b...

journal_title：BMC medical genetics

authors： Youssefian L,Vahidnezhad H,Touati A,Ziaee V,Saeidian AH,Pajouhanfar S,Zeinali S,Uitto J

更新日期：2018-05-25 00:00:00

abstract：BACKGROUND:Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. METHODOLOGY:In this repo...

journal_title：BMC medical genetics

authors： Santos S,Marques V,Pires M,Silveira L,Oliveira H,Lança V,Brito D,Madeira H,Esteves JF,Freitas A,Carreira IM,Gaspar IM,Monteiro C,Fernandes AR

更新日期：2012-03-19 00:00:00

abstract：BACKGROUND:Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to perform genetic test to the patient and help clinician to diagnose precisely. CASE PRESENTATION:In th...

journal_title：BMC medical genetics

authors： Wen W,Yin D,Huang F,Guo M,Tian T,Zhu H,Yang Y

更新日期：2016-02-03 00:00:00

abstract：BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...

journal_title：BMC medical genetics

authors： Gamundi MJ,Hernan I,Martínez-Gimeno M,Maseras M,García-Sandoval B,Ayuso C,Antiñolo G,Baiget M,Carballo M

更新日期：2006-04-05 00:00:00

abstract：BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...

journal_title：BMC medical genetics

authors： Ree R,Geithus AS,Tørring PM,Sørensen KP,Damkjær M,DDD study.,Lynch SA,Arnesen T

更新日期：2019-06-07 00:00:00

abstract：BACKGROUND:Genome-wide association studies (GWAS) in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B) is associated with fasting glucose and type 2 diabetes, which has also been replicated in several Asian populations. As a variant in the gene involved in the regulatio...

journal_title：BMC medical genetics

authors： Liu C,Wu Y,Li H,Qi Q,Langenberg C,Loos RJ,Lin X

更新日期：2010-04-14 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:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...

journal_title：BMC medical genetics

authors： Castellucci L,Jamieson SE,Miller EN,Menezes E,Oliveira J,Magalhães A,Guimarães LH,Lessa M,de Jesus AR,Carvalho EM,Blackwell JM

更新日期：2010-01-20 00:00:00

abstract：BACKGROUND:Obesity is related to multiple cardiovascular disease (CVD) risk factors as well as CVD and has a strong familial component. We tested for association between SNPs on the Affymetrix 100K SNP GeneChip and measures of adiposity in the Framingham Heart Study. METHODS:A total of 1341 Framingham Heart Study part...

journal_title：BMC medical genetics

authors： Fox CS,Heard-Costa N,Cupples LA,Dupuis J,Vasan RS,Atwood LD

更新日期：2007-09-19 00:00:00

abstract：BACKGROUND:Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable clinical phenotypes. Bio...

journal_title：BMC medical genetics

authors： Ballana E,Mercader JM,Fischel-Ghodsian N,Estivill X

更新日期：2007-12-21 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: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:It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic si...

journal_title：BMC medical genetics

authors： Møller DV,Pecini R,Gustafsson F,Hassager C,Hedley P,Jespersgaard C,Torp-Pedersen C,Christiansen M,Køber LV,EchoCardiography and Heart Outcome Study Investigators.

更新日期：2010-07-29 00:00:00

abstract：BACKGROUND:Tendinopathy pathogenesis is associated with inflammation. Regulatory T (Treg) cells contribute to early tissue repair through an anti-inflammatory action, with the forkhead box P3 (FOXP3) transcription factor being essential for Treg function, and the FC-receptor-like 3 (FCRL3) possibly negatively regulatin...

journal_title：BMC medical genetics

authors： Salles JI,Lopes LR,Duarte MEL,Morrissey D,Martins MB,Machado DE,Guimarães JAM,Perini JA

更新日期：2018-07-18 00:00:00

abstract：BACKGROUND:The results of meta-analyses conducted by previous association studies between total homocysteine and schizophrenia suggest that an elevated total homocysteine level is a risk factor for schizophrenia. However, observational studies have potential limitations, such as confounding and reverse causation. In th...

journal_title：BMC medical genetics

authors： Numata S,Kinoshita M,Tajima A,Nishi A,Imoto I,Ohmori T

更新日期：2015-07-26 00:00:00

abstract：BACKGROUND:Preeclampsia is a frequent complication of pregnancy and a leading cause of perinatal mortality. Both genetic and environmental risk factors have been identified. Lipid metabolism, particularly cholesterol metabolism, is associated with this disease. Liver X receptors alpha (NR1H3, also known as LXRalpha) an...

journal_title：BMC medical genetics

authors： Mouzat K,Mercier E,Polge A,Evrard A,Baron S,Balducchi JP,Brouillet JP,Lumbroso S,Gris JC

更新日期：2011-10-26 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:Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normall...

journal_title：BMC medical genetics

authors： Tang F,Ma D,Wang Y,Qiu Y,Liu F,Wang Q,Lu Q,Shi M,Xu L,Liu M,Liang J

更新日期：2017-03-23 00:00:00

abstract：BACKGROUND:Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells. METHODS:We performed a mutational analysis to identify AML somatic mutations using the whole-exome sequencing data of 36 tumor-normal sam...

journal_title：BMC medical genetics

authors： Heo SG,Koh Y,Kim JK,Jung J,Kim HL,Yoon SS,Park JW

更新日期：2017-03-01 00:00:00

abstract：BACKGROUND:Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....

journal_title：BMC medical genetics

authors： Schultz-Rogers L,Muthusamy K,Pinto E Vairo F,Klee EW,Lanpher B

更新日期：2020-11-10 00:00:00

abstract：BACKGROUND:About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequencing of entire coding regions. In some populations, especially if relatively isolated, a few number...

journal_title：BMC medical genetics

authors： Cini G,Mezzavilla M,Della Puppa L,Cupelli E,Fornasin A,D'Elia AV,Dolcetti R,Damante G,Bertok S,Miolo G,Maestro R,de Paoli P,Amoroso A,Viel A

更新日期：2016-02-06 00:00:00

abstract：BACKGROUND:In recent years, genome wide association studies have identified many genetic variants that are consistently associated with common complex diseases, but the amount of heritability explained by these risk alleles is still low. Part of the missing heritability may be due to genetic heterogeneity and small sam...

journal_title：BMC medical genetics

authors： Waltoft BL,Pedersen CB,Nyegaard M,Hobolth A

更新日期：2015-08-30 00:00:00