No association between TGF-β1 polymorphisms and risk of nasopharyngeal carcinoma in a large North African case-control study.

abstract：BACKGROUND:Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our s...

journal_title：BMC medical genetics

authors： Mayans S,Lackovic K,Nyholm C,Lindgren P,Ruikka K,Eliasson M,Cilio CM,Holmberg D

更新日期：2007-02-06 00:00:00

abstract：BACKGROUND:PE (preeclampsia) is a heterogeneous disorder with early onset PE (EOPE) and late onset PE (LOPE) subtypes. Associations between maternal miRNAs biosynthesis genes polymorphisms and risk of PE have been previously observed. However, the impact of polymorphisms in DGCR8 which is indispensable in miRNA maturin...

journal_title：BMC medical genetics

authors： Huang X,Li Z,Lei J,Wang D,Zhang Y

更新日期：2019-09-04 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:In recent years, genome wide association studies have identified many genetic variants that are consistently associated with common complex diseases, but the amount of heritability explained by these risk alleles is still low. Part of the missing heritability may be due to genetic heterogeneity and small sam...

journal_title：BMC medical genetics

authors： Waltoft BL,Pedersen CB,Nyegaard M,Hobolth A

更新日期：2015-08-30 00:00:00

abstract：BACKGROUND:Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cascade screening. Many ...

journal_title：BMC medical genetics

authors： Leong IU,Stuckey A,Lai D,Skinner JR,Love DR

更新日期：2015-05-13 00:00:00

abstract：BACKGROUND:A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affec...

journal_title：BMC medical genetics

authors： Mir H,Raza SI,Touseef M,Memon MM,Khan MN,Jaffar S,Ahmad W

更新日期：2014-02-26 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:The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study wa...

journal_title：BMC medical genetics

authors： Zhu XC,Dai WZ,Ma T

更新日期：2020-09-12 00:00:00

abstract：BACKGROUND:Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been ...

journal_title：BMC medical genetics

authors： Hemminki K,Li X,Försti A,Sundquist J,Sundquist K

更新日期：2013-09-03 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:Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the STK11 gene, encoding a serine threonine kinase have been reported in these patients. However, STK11 mut...

journal_title：BMC medical genetics

authors： Thakur N,Reddy DN,Rao GV,Mohankrishna P,Singh L,Chandak GR

更新日期：2006-09-30 00:00:00

abstract：BACKGROUND:Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein comple...

journal_title：BMC medical genetics

authors： Bayley JP,van Minderhout I,Weiss MM,Jansen JC,Oomen PH,Menko FH,Pasini B,Ferrando B,Wong N,Alpert LC,Williams R,Blair E,Devilee P,Taschner PE

更新日期：2006-01-11 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: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:In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients...

journal_title：BMC medical genetics

authors： Landoulsi Z,Benromdhan S,Ben Djebara M,Damak M,Dallali H,Kefi R,Abdelhak S,Gargouri-Berrechid A,Mhiri C,Gouider R

更新日期：2017-07-06 00:00:00

abstract：BACKGROUND:Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation. METHODS:A four-generation Chinese family diagnosed with autosomal dominant congenit...

journal_title：BMC medical genetics

authors： Song Z,Si N,Xiao W

更新日期：2018-10-19 00:00:00

abstract：BACKGROUND:Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. METHODS:we firstly conducted large-scale literature based disease-gene relationship data analysis to explore the genes implicated with DVT and stroke. F...

journal_title：BMC medical genetics

authors： Xiang X,Yuan D,Kong P,Chen T,Yao H,Lin S,Zhang X,Cao H

更新日期：2020-10-22 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: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:Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL ...

journal_title：BMC medical genetics

authors： McGorrian C,McShane C,McQuade C,Keelan T,Neill JO,Galvin J,Malone K,Mahon NG,Codd M

更新日期：2013-01-08 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: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: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: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:Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether ...

journal_title：BMC medical genetics

authors： Maskoen AM,Reniarti L,Sahiratmadja E,Sisca J,Effendi SH

更新日期：2019-08-09 00:00:00

abstract：BACKGROUND:E-selectin is implicated in various inflammatory processes and related disorders. We aimed to investigate the role of SELE-gene genotypes/haplotypes on plasma levels of MMP9 and sE-selectin in Taiwanese individuals. METHODS:Five hundred twenty individuals were enrolled. Seven tagging SELE single nucleotide ...

journal_title：BMC medical genetics

authors： Wu S,Hsu LA,Teng MS,Lin JF,Chang HH,Sun YC,Chen HP,Ko YL

更新日期：2012-11-29 00:00:00

abstract：BACKGROUND:Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior findings in non-obese preschool-aged Hispanic children identified 17 CpG dinucleotides for which di...

journal_title：BMC medical genetics

authors： Rushing A,Sommer EC,Zhao S,Po'e EK,Barkin SL

更新日期：2020-02-14 00:00:00

abstract：BACKGROUND:X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype...

journal_title：BMC medical genetics

authors： Oder D,Vergho D,Ertl G,Wanner C,Nordbeck P

更新日期：2016-07-19 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