Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.

abstract：BACKGROUND:Prostate cancer is a heterogeneous disease, meaning patients would benefit from different treatment strategies based on their molecular stratification. In recent years, several genomic studies have identified prostate cancers with defects in DNA repair genes. It is known that the PARP inhibitor, olaparib, ha...

journal_title：BMC medical genetics

authors： Ma Y,He L,Huang Q,Zheng S,Zhang Z,Li H,Liu S

更新日期：2018-10-17 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: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:CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combi...

journal_title：BMC medical genetics

authors： Pisaneschi E,Sirleto P,Lepri FR,Genovese S,Dentici ML,Petrocchi S,Angioni A,Digilio MC,Dallapiccola B

更新日期：2015-09-03 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: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: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: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:Catechol-O-methyltransferase (COMT Val158Met) has been implicated in both depression and cardiovascular disease. The purpose of this study was to assess if COMT Val158Met, which influences the COMT enzyme activity, has an effect on the risk of cardiovascular disease (CVD) in individuals with a history of dep...

journal_title：BMC medical genetics

authors： Almas A,Forsell Y,Millischer V,Möller J,Lavebratt C

更新日期：2018-07-25 00:00:00

abstract：BACKGROUND:Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Sit...

journal_title：BMC medical genetics

authors： Bedeschi MF,Calvello M,Paganini L,Pezzani L,Baccarin M,Fontana L,Sirchia SM,Guerneri S,Canazza L,Leva E,Colombo L,Lalatta F,Mosca F,Tabano S,Miozzo M

更新日期：2017-10-18 00:00:00

abstract：BACKGROUND:Rs189037 (G > A) is a functional single nucleotide polymorphism (SNP) in the Ataxia-telangiectasia mutated (ATM) gene that may be associated with the risk of cancer. We performed a meta-analysis to determine whether rs189037 polymorphism influences the occurrence of cancer and examined the relationship betwe...

journal_title：BMC medical genetics

authors： Zhao ZL,Xia L,Zhao C,Yao J

更新日期：2019-02-01 00:00:00

abstract：BACKGROUND:The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of...

journal_title：BMC medical genetics

authors： Hersmus R,Stoop H,Turbitt E,Oosterhuis JW,Drop SL,Sinclair AH,White SJ,Looijenga LH

更新日期：2012-11-16 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: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: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:Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subtype of autosomal domin...

journal_title：BMC medical genetics

authors： Huang B,Liu Y,Gao X,Xu J,Dai P,Zhu Q,Yuan Y

更新日期：2017-03-24 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 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: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: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: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: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:Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein ...

journal_title：BMC medical genetics

authors： Rejeb I,Jilani H,Elaribi Y,Hizem S,Hila L,Zillahrdt JL,Chelly J,Benjemaa L

更新日期：2017-11-17 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: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: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: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:Risk gene variants for celiac disease, identified in genome-wide linkage and association studies, might influence molecular pathways important for disease development. The aim was to examine expression levels of potential risk genes close to these variants in the small intestine and peripheral blood and also...

journal_title：BMC medical genetics

authors： Montén C,Gudjonsdottir AH,Browaldh L,Arnell H,Nilsson S,Agardh D,Naluai ÅT

更新日期：2015-06-30 00:00:00

abstract：BACKGROUND:Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous muta...

journal_title：BMC medical genetics

authors： Horita S,Simsek E,Simsek T,Yildirim N,Ishiura H,Nakamura M,Satoh N,Suzuki A,Tsukada H,Mizuno T,Seki G,Tsuji S,Nangaku M

更新日期：2018-06-18 00:00:00

abstract：BACKGROUND:Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reasons a large number of Iraqi patients present to Lebanon for medical care. This is the first repor...

journal_title：BMC medical genetics

authors： Farra C,Dagher C,Hamadeh L,El Saghir N,Mukherji D

更新日期：2019-09-05 00:00:00