A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report.

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: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:Observational studies and randomized trials have suggested that estrogens and/or progesterone may lower the risk for colorectal cancer. Inherited variation in the sex-hormone genes may be one mechanism by which sex hormones affect colorectal cancer, although data are limited. METHOD:We conducted a comprehen...

journal_title：BMC medical genetics

authors： Lin JH,Manson JE,Kraft P,Cochrane BB,Gunter MJ,Chlebowski RT,Zhang SM

更新日期：2011-05-31 00:00:00

abstract：BACKGROUND:Multiple genome-wide association studies (GWAS) within European populations have implicated common genetic variants associated with insulin and glucose concentrations. In contrast, few studies have been conducted within minority groups, which carry the highest burden of impaired glucose homeostasis and type ...

journal_title：BMC medical genetics

authors： Fesinmeyer MD,Meigs JB,North KE,Schumacher FR,Bůžková P,Franceschini N,Haessler J,Goodloe R,Spencer KL,Voruganti VS,Howard BV,Jackson R,Kolonel LN,Liu S,Manson JE,Monroe KR,Mukamal K,Dilks HH,Pendergrass SA,Nato A,

更新日期：2013-09-25 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:Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent associat...

journal_title：BMC medical genetics

authors： Balendra R,Uphill J,Collinson C,Druyeh R,Adamson G,Hummerich H,Zerr I,Gambetti P,Collinge J,Mead S

更新日期：2016-04-07 00:00:00

abstract：BACKGROUND:PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, which is responsible for the conv...

journal_title：BMC medical genetics

authors： Zhang Z,Huang TL,Ma J,He WJ,Gu H

更新日期：2019-11-14 00:00:00

abstract：BACKGROUND:The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR)...

journal_title：BMC medical genetics

authors： Luzón-Toro B,Espino-Paisán L,Fernández RM,Martín-Sánchez M,Antiñolo G,Borrego S

更新日期：2015-10-05 00:00:00

abstract：BACKGROUND:Preterm birth (PTB) is a complex disorder associated with significant neonatal mortality and morbidity and long-term adverse health consequences. Multiple lines of evidence suggest that genetic factors play an important role in its etiology. This study was designed to identify genetic variation associated wi...

journal_title：BMC medical genetics

authors： Kim J,Stirling KJ,Cooper ME,Ascoli M,Momany AM,McDonald EL,Ryckman KK,Rhea L,Schaa KL,Cosentino V,Gadow E,Saleme C,Shi M,Hallman M,Plunkett J,Teramo KA,Muglia LJ,Feenstra B,Geller F,Boyd HA,Melbye M,Marazita ML

更新日期：2013-07-26 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: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:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...

journal_title：BMC medical genetics

authors： Kume K,Morino H,Miyamoto R,Matsuda Y,Ohsawa R,Kanaya Y,Tada Y,Kurashige T,Kawakami H

更新日期：2020-03-31 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: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: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: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: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: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:Chronic kidney disease progression has been linked to pro-inflammatory cytokines and markers of inflammation. These markers are also elevated in end-stage renal disease (ESRD), which constitutes a serious public health problem. OBJECTIVE:To investigate whether single nucleotide polymorphisms (SNPs) located ...

journal_title：BMC medical genetics

authors： Jimenez-Sousa MA,López E,Fernandez-Rodríguez A,Tamayo E,Fernández-Navarro P,Segura-Roda L,Heredia M,Gómez-Herreras JI,Bustamante J,García-Gómez JM,Bermejo-Martin JF,Resino S

更新日期：2012-07-20 00:00:00

abstract：BACKGROUND:Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identifie...

journal_title：BMC medical genetics

authors： Dello Russo P,Franzoni A,Baldan F,Puppin C,De Maglio G,Pittini C,Cattarossi L,Pizzolitto S,Damante G

更新日期：2015-10-13 00:00:00

abstract：BACKGROUND:The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk. However, studies have largely been ambiguous. METHODS:Met...

journal_title：BMC medical genetics

authors： Hussain T,Naushad SM,Ahmed A,Alamery S,Mohammed AA,Abdelkader MO,Alkhrm NAN

更新日期：2019-12-10 00:00:00

abstract：BACKGROUND:Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION:Family members underwent audiological and imaging evaluations, including pure tone audiometry ...

journal_title：BMC medical genetics

authors： Choi HJ,Lee JS,Yu S,Cha DH,Gee HY,Choi JY,Lee JD,Jung J

更新日期：2017-12-19 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:We evaluated cytogenetic results occurring with first trimester pregnancy loss, and assessed the type and frequency of chromosomal abnormalities after assisted reproductive treatment (ART) and compared them with a control group. We also compared the rate of chromosomal abnormalities according to infertility ...

journal_title：BMC medical genetics

authors： Kim JW,Lee WS,Yoon TK,Seok HH,Cho JH,Kim YS,Lyu SW,Shim SH

更新日期：2010-11-03 00:00:00

abstract：BACKGROUND:Proper expression and functioning of transcription factors (TFs) are essential for regulation of different traits and thus could be crucial for the development of complex diseases. Subjects with Down syndrome (DS) have a higher incidence of acute lymphoblastic leukemia (ALL) while solid tumors, like breast c...

journal_title：BMC medical genetics

authors： Chatterjee A,Dutta S,Mukherjee S,Mukherjee N,Dutta A,Mukherjee A,Sinha S,Panda CK,Chaudhuri K,Roy AL,Mukhopadhyay K

更新日期：2013-01-23 00:00:00

abstract：BACKGROUND:Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. METHODS:The proband had prim...

journal_title：BMC medical genetics

authors： Guarnieri V,Seaberg RM,Kelly C,Jean Davidson M,Raphael S,Shuen AY,Baorda F,Palumbo O,Scillitani A,Hendy GN,Cole DEC

更新日期：2017-08-03 00:00:00

abstract：BACKGROUND:Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. METHODS:We recr...

journal_title：BMC medical genetics

authors： Peter I,Mitchell AA,Ozelius L,Erazo M,Hu J,Doheny D,Abreu MT,Present DH,Ullman T,Benkov K,Korelitz BI,Mayer L,Desnick RJ,New York Crohn's Disease Working Group.

更新日期：2011-05-06 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: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:Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION:A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, ...

journal_title：BMC medical genetics

authors： Brooks BP,Meck JM,Haddad BR,Bendavid C,Blain D,Toretsky JA

更新日期：2006-01-13 00:00:00