abstract：BACKGROUND:Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whe...

journal_title：BMC medical genetics

authors： Merkelbach-Bruse S,Dietmaier W,Füzesi L,Gaumann A,Haller F,Kitz J,Krohn A,Mechtersheimer G,Penzel R,Schildhaus HU,Schneider-Stock R,Simon R,Wardelmann E

更新日期：2010-07-04 00:00:00

abstract：BACKGROUND:Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inac...

journal_title：BMC medical genetics

authors： Makarov R,Steiner B,Gucev Z,Tasic V,Wieacker P,Wieland I

更新日期：2010-06-17 00:00:00

abstract：BACKGROUND:Genetic variations in the calpain-10 gene (CAPN10), in particular the at-risk diplotype (112/121), were previously implicated with increased risk of type 2 diabetes (T2D). METHODS:We examined the association of CAPN10 UCSNP-43 (rs3792267), UCSNP-19 (rs3842570), and UCSNP-63 (rs5030952) SNPs with T2D in 917 ...

journal_title：BMC medical genetics

authors： Ezzidi I,Turki A,Messaoudi S,Chaieb M,Kacem M,Al-Khateeb GM,Mahjoub T,Almawi WY,Mtiraoui N

更新日期：2010-05-15 00:00:00

abstract：BACKGROUND:Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter...

journal_title：BMC medical genetics

authors： Lee WJ,Pollin TI,O'Connell JR,Agarwala R,Schäffer AA

更新日期：2010-05-02 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:Mitochondrial function is impaired in Parkinson's disease (PD) and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA) from PD patients, implicating mtDNA variants...

journal_title：BMC medical genetics

authors： Simon DK,Pankratz N,Kissell DK,Pauciulo MW,Halter CA,Rudolph A,Pfeiffer RF,Nichols WC,Foroud T,Parkinson Study Group-PROGENI Investigators.

更新日期：2010-04-01 00:00:00

abstract：BACKGROUND:To determine association of nine single nucleotide polymorphisms (SNPs) in ADP ribosyltransferase-1 (ADPRT1), aldo-keto reductase family 1 member B1 (AKR1B1), receptor for advanced glycation end-products (RAGE), glutamine:fructose-6-phosphate amidotransferase-2 (GFPT2), and plasminogen activator inhibitor-1 ...

journal_title：BMC medical genetics

authors： Prasad P,Tiwari AK,Kumar KM,Ammini AC,Gupta A,Gupta R,Thelma BK

更新日期：2010-03-31 00:00:00

abstract：BACKGROUND:Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD). Although DMD is known to affect one in every 3500 males regardless of race, a widespread founder mutation causing LGMD2C has been described in North Africa. However, th...

journal_title：BMC medical genetics

authors： Okizuka Y,Takeshima Y,Itoh K,Zhang Z,Awano H,Maruyama K,Kumagai T,Yagi M,Matsuo M

更新日期：2010-03-30 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:The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health amo...

journal_title：BMC medical genetics

authors： Hamang A,Eide GE,Nordin K,Rokne B,Bjorvatn C,Øyen N

更新日期：2010-02-17 00:00:00

abstract：BACKGROUND:Probably the best example of the rise and maintenance of balancing selection as an evolutionary trend is the role of S-haemoglobin (HbS - rs334) in protecting from malaria. Yet, the dynamics of such a process remains poorly understood, particularly in relation to different malaria transmission rates and the ...

journal_title：BMC medical genetics

authors： Salih NA,Hussain AA,Almugtaba IA,Elzein AM,Elhassan IM,Khalil EA,Ishag HB,Mohammed HS,Kwiatkowski D,Ibrahim ME

更新日期：2010-02-03 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: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: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:Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22. Recent studies showed that a genetic variation within the interferon induced helicase ...

journal_title：BMC medical genetics

authors： Penna-Martinez M,Ramos-Lopez E,Robbers I,Kahles H,Hahner S,Willenberg H,Reisch N,Seidl C,Segni M,Badenhoop K

更新日期：2009-12-04 00:00:00

abstract：BACKGROUND:Six asthma candidate genes, ADAM33, NPSR1, PHF11, DPP10, HLA-G, and CYFIP2, located at different chromosome regions have been positionally cloned following the reported linkage studies. For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian po...

journal_title：BMC medical genetics

authors： Zhou H,Hong X,Jiang S,Dong H,Xu X,Xu X

更新日期：2009-12-01 00:00:00

abstract：BACKGROUND:Elastogenesis of elastic extracellular matrix (ECM) which was recognized as a major component of blood vessels has been believed for a long time to play only a passive role in the dynamic vascular changes of typical hypertension. Emilin1 gene participated in the transcription of ECM's formation and was recog...

journal_title：BMC medical genetics

authors： Shen C,Lu X,Li Y,Zhao Q,Liu X,Hou L,Wang L,Chen S,Huang J,Gu D

更新日期：2009-11-18 00:00:00

abstract：BACKGROUND:The mitochondrial voltage-dependent anion channel (VDAC) is increasingly implicated in the control of apoptosis. We have studied the effects the mitochondrial DNA (mtDNA) tRNAIle mutation on VDAC expression, localization, and apoptosis. METHODS:Lymphoblastoid cell lines were derived from 3 symptomatic and 1...

journal_title：BMC medical genetics

authors： Yuqi L,Lei G,Yang L,Zongbin L,Hua X,Lin W,Rui C,Mohan L,Yi W,Minxin G,Shiwen W

更新日期：2009-11-09 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: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:As cyclin-dependent kinase 5 (CDK5) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD. METHODS:We examined genetic variations of CDK5 by gen...

journal_title：BMC medical genetics

authors： Vázquez-Higuera JL,Mateo I,Sánchez-Juan P,Rodríguez-Rodríguez E,Infante J,Berciano J,Combarros O

更新日期：2009-07-17 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

abstract：BACKGROUND:Mitotic recombination is important for inactivating tumour suppressor genes by copy-neutral loss of heterozygosity (LOH). Although meiotic recombination maps are plentiful, little is known about mitotic recombination. The APC gene (chr5q21) is mutated in most colorectal tumours and its usual mode of LOH is m...

journal_title：BMC medical genetics

authors： Howarth K,Ranta S,Winter E,Teixeira A,Schaschl H,Harvey JJ,Rowan A,Jones A,Spain S,Clark S,Guenther T,Stewart A,Silver A,Tomlinson I

更新日期：2009-06-10 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:Streptococcus pneumoniae (pneumococcus) is responsible for over one million deaths per year, with young children, the elderly and immunocompromised individuals being most at risk. Approximately half of East African children have been reported to be asymptomatic carriers of pneumococcus with invasive infectio...

journal_title：BMC medical genetics

authors： Payton A,Payne D,Mankhambo LA,Banda DL,Hart CA,Ollier WE,Carrol ED

更新日期：2009-03-23 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:The number of genome-wide association studies (GWAS) is growing rapidly leading to the discovery and replication of many new disease loci. Combining results from multiple GWAS datasets may potentially strengthen previous conclusions and suggest new disease loci, pathways or pleiotropic genes. However, no dat...

journal_title：BMC medical genetics

authors： Johnson AD,O'Donnell CJ

更新日期：2009-01-22 00:00:00

abstract：BACKGROUND:Estrogen activity plays a critical role in bone homeostasis. The serum levels of sex hormone binding globulin (SHBG) influence free estrogen levels and activity on target tissues. The objective of this study was to analyze the influence of common polymorphisms of the SHBG gene on serum SHBG, bone mineral den...

journal_title：BMC medical genetics

authors： Riancho JA,Valero C,Zarrabeitia MT,García-Unzueta MT,Amado JA,González-Macías J

更新日期：2008-12-17 00:00:00

abstract：BACKGROUND:CALM1 gene encodes calmodulin (CaM), an important and ubiquitous eukaryotic Ca2+-binding protein. Several studies have indicated that a deficient CaM function is likely to be involved in the pathogenesis of osteoarthritis (OA). Using a convincing genome-wide association study, a Japanese group has recently d...

journal_title：BMC medical genetics

authors： Shi D,Ni H,Dai J,Qin J,Xu Y,Zhu L,Yao C,Shao Z,Chen D,Xu Z,Yi L,Ikegawa S,Jiang Q

更新日期：2008-10-22 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: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: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: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:Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes the entire AVPR2 locus and...

journal_title：BMC medical genetics

authors： Fujimoto M,Imai K,Hirata K,Kashiwagi R,Morinishi Y,Kitazawa K,Sasaki S,Arinami T,Nonoyama S,Noguchi E

更新日期：2008-05-20 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:Kidneys have an important function in blood pressure (BP) regulation and elevated BP may lead to kidney failure. Chr2p12-p13 region linked to BP traits in multiple studies harbours a potential candidate for BP and renal function, N-acetyltransferase 8 (NAT8) expressed in embryonic and adult kidney and associ...

journal_title：BMC medical genetics

authors： Juhanson P,Kepp K,Org E,Veldre G,Kelgo P,Rosenberg M,Viigimaa M,Laan M

更新日期：2008-04-10 00:00:00

abstract：BACKGROUND:The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with myocardial infarction (MI). We tested whether single nucleotide polymorphisms (SNPs) in OLR1 are associated with clinically signific...

journal_title：BMC medical genetics

authors： Knowles JW,Assimes TL,Boerwinkle E,Fortmann SP,Go A,Grove ML,Hlatky M,Iribarren C,Li J,Myers R,Risch N,Sidney S,Southwick A,Volcik KA,Quertermous T

更新日期：2008-04-02 00:00:00

abstract：BACKGROUND:Changes in the density and expression of histamine receptors (HRH) have been detected in Parkinson's disease (PD) patients, and HRH antagonists bring about improvements in motor and other symptoms, thus suggesting that HRH play a role in the clinical response of PD patients. This study is aimed to analyse po...

journal_title：BMC medical genetics

authors： García-Martín E,Ayuso P,Luengo A,Martínez C,Agúndez JA

更新日期：2008-03-17 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:Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide screen, we reported linkage of autism with a 1.2 Megabase interval on chromosome 5q31. For the current s...

journal_title：BMC medical genetics

authors： Philippi A,Tores F,Carayol J,Rousseau F,Letexier M,Roschmann E,Lindenbaum P,Benajjou A,Fontaine K,Vazart C,Gesnouin P,Brooks P,Hager J

更新日期：2007-12-06 00:00:00