ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women.

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: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:While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. METHODS:In this study, we report on clinica...

journal_title：BMC medical genetics

authors： Hadj Amor M,Dimassi S,Taj A,Slimani W,Hannachi H,Mlika A,Ben Helel K,Saad A,Mougou-Zerelli S

更新日期：2020-02-06 00:00:00

abstract：BACKGROUND:Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. METHODS:Literature-based data mining was conducted to identify genes, molecule, and cell processes linked to both hyperkalemia and ...

journal_title：BMC medical genetics

authors： Meng X,Lu H,Jiang X,Huang B,Wu S,Yu G,Cao H

更新日期：2020-10-22 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: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:Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1. METHODS:Twenty-four studies with a total of 2379 patients were included. A comprehe...

journal_title：BMC medical genetics

authors： Sun S,Dong H,Yan T,Li J,Liu B,Shao P,Li J,Liang C

更新日期：2020-06-29 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: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: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: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: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: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: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: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: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:It is generally accepted that genetic factors play a role in susceptibility to both leprosy per se and leprosy type, but only few studies have tempted to quantify this. Estimating the contribution of genetic factors to clustering of leprosy within families is difficult since these persons often share the sam...

journal_title：BMC medical genetics

authors： Bakker MI,May L,Hatta M,Kwenang A,Klatser PR,Oskam L,Houwing-Duistermaat JJ

更新日期：2005-11-24 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: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: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:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was ...

journal_title：BMC medical genetics

authors： Venugopal P,Gagliardi L,Forsyth C,Feng J,Phillips K,Babic M,Poplawski NK,Rienhoff HY Jr,Schreiber AW,Hahn CN,Brown AL,Scott HS

更新日期：2020-02-17 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: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: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:Type 2 diabetes mellitus is increasing dramatically in sub-Saharan Africa, and genetic predisposition is likely involved in that. Yet, genetic variants known to confer increased susceptibility among Caucasians are far from being established in African populations. In Ghanaian adults, we examined associations...

journal_title：BMC medical genetics

authors： Danquah I,Othmer T,Frank LK,Bedu-Addo G,Schulze MB,Mockenhaupt FP

更新日期：2013-09-23 00:00:00

abstract：BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases ...

journal_title：BMC medical genetics

authors： Albiñana V,Zafra MP,Colau J,Zarrabeitia R,Recio-Poveda L,Olavarrieta L,Pérez-Pérez J,Botella LM

更新日期：2017-02-23 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: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: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:Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....

journal_title：BMC medical genetics

authors： Schultz-Rogers L,Muthusamy K,Pinto E Vairo F,Klee EW,Lanpher B

更新日期：2020-11-10 00:00:00