Analyses of associations between three positionally cloned asthma candidate genes and asthma or asthma-related phenotypes in a Chinese population.

abstract：BACKGROUND:The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood. METHODS:To determine the frequency of TMEM43 mutations as a cause of ARVC, we scree...

journal_title：BMC medical genetics

authors： Rajkumar R,Sembrat JC,McDonough B,Seidman CE,Ahmad F

更新日期：2012-03-29 00:00:00

abstract：BACKGROUND:The chromosome 7q32 region is linked to metabolic syndrome and obesity related traits in the Family Heart Study. As part of a fine mapping study of the region, we evaluated the relationship of polymorphisms to fasting glucose levels and Type 2 diabetes. METHODS:Thirty-nine HapMap defined tag SNPs in a 1.08 ...

journal_title：BMC medical genetics

authors： Laramie JM,Wilk JB,Williamson SL,Nagle MW,Latourelle JC,Tobin JE,Province MA,Borecki IB,Myers RH

更新日期：2008-05-22 00:00:00

abstract：BACKGROUND:The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. High transcranial doppler (TCD) velocities define a subgroup of children with sickle cell disease who are at increased risk for developing ischemic stroke. The ...

journal_title：BMC medical genetics

authors： Adams GT,Snieder H,McKie VC,Clair B,Brambilla D,Adams RJ,Kutlar F,Kutlar A

更新日期：2003-07-18 00:00:00

abstract：BACKGROUND:Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom severity varies widely and boys are diagnosed more frequently than girls. ADHD probands were reported to...

journal_title：BMC medical genetics

authors： Karmakar A,Goswami R,Saha T,Maitra S,Roychowdhury A,Panda CK,Sinha S,Ray A,Mohanakumar KP,Rajamma U,Mukhopadhyay K

更新日期：2017-10-05 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:The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocyto...

journal_title：BMC medical genetics

authors： Bayley JP,Oldenburg RA,Nuk J,Hoekstra AS,van der Meer CA,Korpershoek E,McGillivray B,Corssmit EP,Dinjens WN,de Krijger RR,Devilee P,Jansen JC,Hes FJ

更新日期：2014-10-10 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

abstract：BACKGROUND:Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mut...

journal_title：BMC medical genetics

authors： Radman M,Milicevic T

更新日期：2020-09-29 00:00:00

abstract：BACKGROUND:Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primari...

journal_title：BMC medical genetics

authors： Mayeur H,Roche O,Vêtu C,Jaliffa C,Marchant D,Dollfus H,Bonneau D,Munier FL,Schorderet DF,Levin AV,Héon E,Sutherland J,Lacombe D,Said E,Mezer E,Kaplan J,Dufier JL,Marsac C,Menasche M,Abitbol M

更新日期：2006-04-28 00:00:00

abstract：BACKGROUND:Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene. CASE PRESENTATION:Here, we investigate the...

journal_title：BMC medical genetics

authors： Jacob A,Pasquier J,Carapito R,Auradé F,Molitor A,Froguel P,Fakhro K,Halabi N,Viot G,Bahram S,Rafii A

更新日期：2020-09-17 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:Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylch...

journal_title：BMC medical genetics

authors： Goubran M,Aderibigbe A,Jacquemin E,Guettier C,Girgis S,Bain V,Mason AL

更新日期：2020-11-30 00:00:00

abstract：BACKGROUND:Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene. We sought to identify mutations in genes affecting cardiac calcium cycling in patients with CPVT and in less typical familial exercise-r...

journal_title：BMC medical genetics

authors： Marjamaa A,Laitinen-Forsblom P,Lahtinen AM,Viitasalo M,Toivonen L,Kontula K,Swan H

更新日期：2009-02-12 00:00:00

abstract：BACKGROUND:Ring chromosomes are one category of structurally abnormal chromosomes that can lead to severe growth retardation and other clinical defects. Traditionally, their diagnosis and characterization has largely relied on conventional cytogenetics and fluorescence in situ hybridization, array-based comparative gen...

journal_title：BMC medical genetics

authors： Ji X,Liang D,Sun R,Liu C,Ma D,Wang Y,Hu P,Xu Z

更新日期：2015-07-30 00:00:00

abstract：BACKGROUND:Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unk...

journal_title：BMC medical genetics

authors： Xu D,Sun C,Zhou Z,Wu B,Yang L,Chang Z,Zhang M,Xi L,Cheng R,Ni J,Luo F

更新日期：2018-05-16 00:00:00

abstract：BACKGROUND:Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more...

journal_title：BMC medical genetics

authors： Yu W,Jin H,Deng J,Nan D,Huang Y

更新日期：2020-06-03 00:00:00

abstract：BACKGROUND:Autoimmune diseases with elevated circulating autoantibodies drive tissue damage and the onset of disease. The Fcγ receptors bind IgG subtypes modulating the clearance of circulating immune complexes (CIC). The inner ear damage in Ménière's disease (MD) could be mediated by an immune response driven by CIC. ...

journal_title：BMC medical genetics

authors： Lopez-Escamez JA,Saenz-Lopez P,Gazquez I,Moreno A,Gonzalez-Oller C,Soto-Varela A,Santos S,Aran I,Perez-Garrigues H,Ibañez A,Lopez-Nevot MA

更新日期：2011-01-05 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: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:Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), which, in addition to int22h3, are also responsible for inversions disrupting the F8 gene in hemoph...

journal_title：BMC medical genetics

authors： El-Hattab AW,Schaaf CP,Fang P,Roeder E,Kimonis VE,Church JA,Patel A,Cheung SW

更新日期：2015-03-14 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:The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide polymorphisms (SNPs) in 1,010 FHS participants provides a list of SNPs showing the strongest associations with renal traits which need to be v...

journal_title：BMC medical genetics

authors： Kottgen A,Kao WH,Hwang SJ,Boerwinkle E,Yang Q,Levy D,Benjamin EJ,Larson MG,Astor BC,Coresh J,Fox CS

更新日期：2008-06-03 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: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: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 mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein comple...

journal_title：BMC medical genetics

authors： Bayley JP,van Minderhout I,Weiss MM,Jansen JC,Oomen PH,Menko FH,Pasini B,Ferrando B,Wong N,Alpert LC,Williams R,Blair E,Devilee P,Taschner PE

更新日期：2006-01-11 00:00:00

abstract：BACKGROUND:von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. Patients have significant morbidity and mortality secondary to vascular tumors. Disease management is centered on tumor surveillance that allows early detection and treatment. Presymptomatic genetic ...

journal_title：BMC medical genetics

authors： Rasmussen A,Alonso E,Ochoa A,De Biase I,Familiar I,Yescas P,Sosa AL,Rodríguez Y,Chávez M,López-López M,Bidichandani SI

更新日期：2010-01-12 00:00:00

abstract：BACKGROUND:Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. METHODS:we firstly conducted large-scale literature based disease-gene relationship data analysis to explore the genes implicated with DVT and stroke. F...

journal_title：BMC medical genetics

authors： Xiang X,Yuan D,Kong P,Chen T,Yao H,Lin S,Zhang X,Cao H

更新日期：2020-10-22 00:00:00

abstract：BACKGROUND:Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation. METHODS:Doppler echocard...

journal_title：BMC medical genetics

authors： Tang W,Devereux RB,Li N,Oberman A,Kitzman DW,Rao DC,Hopkins PN,Claas SA,Arnett DK

更新日期：2009-05-09 00:00:00

abstract：BACKGROUND:I/D polymorphisms of ACE are associated with the plasma ACE concentration. The ACE is associated with the angiogenesis of ovarian endothelium in vitro as well as steroidogenesis and follicular growth in cattle. Since ACE induces a high blood supply and hypersteroidogenesis in the ovary, it may be associated ...

journal_title：BMC medical genetics

authors： Sun J,Fan H,Che Y,Cao Y,Wu X,Sun HX,Liang F,Yi L,Wang Y

更新日期：2009-07-14 00:00:00