Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease.

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: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:Diabetes mellitus (DM) is divided into four different etiological categories: type 1 DM (T1DM), type 2 DM (T2DM), other specific types, and gestational DM. One severe complication of T2DM is type 2 diabetic nephropathy (T2DN). The possible association of serum transforming growth factor-β1 (TGF-β1) levels an...

journal_title：BMC medical genetics

authors： Zhou T,Li HY,Zhong H,Zhong Z

更新日期：2018-11-20 00:00:00

abstract：BACKGROUND:Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive genetic and allelic heterogeneity. To date, disease mutations have been identified in 29 ...

journal_title：BMC medical genetics

authors： Lin S,Harlalka GV,Hameed A,Reham HM,Yasin M,Muhammad N,Khan S,Baple EL,Crosby AH,Saleha S

更新日期：2018-09-10 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 variant rs11085226 (G) within the gene encoding polypyrimidine tract binding protein 1 (PTBP1) was reported to associate with reduced insulin release determined by an oral glucose tolerance test (OGTT) as well as an intravenous glucose tolerance test (IVGTT). The aim of the present study was to validate ...

journal_title：BMC medical genetics

authors： Hansen TH,Vestergaard H,Jørgensen T,Jørgensen ME,Lauritzen T,Brandslund I,Christensen C,Pedersen O,Hansen T,Gjesing AP

更新日期：2015-03-20 00:00:00

abstract：BACKGROUND:Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10...

journal_title：BMC medical genetics

authors： Alías L,Crespi J,González-Quereda L,Téllez J,Martínez E,Bernal S,Gallano MP

更新日期：2018-05-11 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:Asthma genetics has been extensively studied and many genes have been associated with the development or severity of this disease. In contrast, the genetic basis of allergic rhinitis (AR) has not been evaluated as extensively. It is well known that asthma is closely related with AR since a large proportion o...

journal_title：BMC medical genetics

authors： Andiappan AK,Nilsson D,Halldén C,Yun WD,Säll T,Cardell LO,Tim CF

更新日期：2013-05-10 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:FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we ha...

journal_title：BMC medical genetics

authors： Nguyen-Dumont T,Myszka A,Karpinski P,Sasiadek MM,Akopyan H,Hammet F,Tsimiklis H,Park DJ,Pope BJ,Slezak R,Kitsera N,Siekierzynska A,Southey MC

更新日期：2018-01-19 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:Vitamin D has been shown to exert manifold immunomodulatory effects. Type 1 diabetes mellitus (T1DM) is regarded to be immune-mediated and vitamin D prevents the development of diabetes in the NOD mouse. We studied the association between T1DM and the initiation codon polymorphism in exon 2 of the vitamin D ...

journal_title：BMC medical genetics

authors： Ban Y,Taniyama M,Yanagawa T,Yamada S,Maruyama T,Kasuga A,Ban Y

更新日期：2001-01-01 00:00:00

abstract：BACKGROUND:Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% o...

journal_title：BMC medical genetics

authors： López M,Seidel V,Santibáñez P,Cervera-Acedo C,Castro-de Castro P,Domínguez-Garrido E

更新日期：2016-12-13 00:00:00

abstract：BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...

journal_title：BMC medical genetics

authors： Schnakenberg E,Mehles A,Cario G,Rehe K,Seidemann K,Schlegelberger B,Elsner HA,Welte KH,Schrappe M,Stanulla M

更新日期：2005-05-27 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:Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in o...

journal_title：BMC medical genetics

authors： Uysal F,Turkgenc B,Toksoy G,Bostan OM,Evke E,Uyguner O,Yakicier C,Kayserili H,Cil E,Temel SG

更新日期：2017-10-16 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: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:KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS:Here, we report a new case of TMBTS diagnosed in a L...

journal_title：BMC medical genetics

authors： Mégarbané A,Al-Ali R,Choucair N,Lek M,Wang E,Ladjimi M,Rose CM,Hobeika R,Macary Y,Temanni R,Jithesh PV,Chouchane A,Sastry KS,Thomas R,Tomei S,Liu W,Marincola FM,MacArthur D,Chouchane L

更新日期：2016-06-10 00:00:00

abstract：BACKGROUND:Recent investigations demonstrated many genetic contributions to the development of human age-related hearing impairment (ARHI), however, reports of factors associated with a reduction in the ARHI risk are rare. Folate metabolism is essential for cellular functioning. Despite the extensive investigations reg...

journal_title：BMC medical genetics

authors： Uchida Y,Sugiura S,Ando F,Nakashima T,Shimokata H

更新日期：2011-03-07 00:00:00

abstract：BACKGROUND:Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. CASE PRESENTATION:The patient was a 2-year-old boy who underwent surgery in our hospital. The right han...

journal_title：BMC medical genetics

authors： Zou Q,Tian Z,Zheng J,Zhi X,Du X,Shu J,Cai C

更新日期：2019-11-09 00:00:00

abstract：BACKGROUND:Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. CASE ...

journal_title：BMC medical genetics

authors： Li C,Chen R,Fan X,Luo J,Qian J,Wang J,Xie B,Shen Y,Chen S

更新日期：2015-04-11 00:00:00

abstract：BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. METHODS:A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 20...

journal_title：BMC medical genetics

authors： Ahmed NA,Adam I,Elzaki SEG,Awooda HA,Hamdan HZ

更新日期：2019-01-05 00:00:00

abstract：BACKGROUND:Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D. METHODS:We retrospectively retrieved a series of eight patients from tw...

journal_title：BMC medical genetics

authors： Liu S,Hong X,Shen C,Shi Q,Wang J,Xiong F,Qiu Z

更新日期：2015-04-21 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:Telomere length, an indicator of ageing and longevity, has been correlated with several biomarkers of cardiometabolic disease in both Arab children and adults. It is not known, however, whether or not telomere length is a highly conserved inheritable trait in this homogeneous cohort, where age-related diseas...

journal_title：BMC medical genetics

authors： Al-Attas OS,Al-Daghri NM,Alokail MS,Alkharfy KM,Alfadda AA,McTernan P,Gibson GC,Sabico SB,Chrousos GP

更新日期：2012-05-18 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: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: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