A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.

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:Some Hirschsprung's disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to inve...

journal_title：BMC medical genetics

authors： Gunadi,Sunardi M,Budi NYP,Kalim AS,Iskandar K,Dwihantoro A

更新日期：2018-02-13 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: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: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:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...

journal_title：BMC medical genetics

authors： Castellucci L,Jamieson SE,Miller EN,Menezes E,Oliveira J,Magalhães A,Guimarães LH,Lessa M,de Jesus AR,Carvalho EM,Blackwell JM

更新日期：2010-01-20 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:Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormonogensis in a conditi...

journal_title：BMC medical genetics

authors： Landa P,Differ AM,Rajput K,Jenkins L,Bitner-Glindzicz M

更新日期：2013-08-21 00:00:00

abstract：BACKGROUND:Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defin...

journal_title：BMC medical genetics

authors： Kelempisioti A,Eskola PJ,Okuloff A,Karjalainen U,Takatalo J,Daavittila I,Niinimäki J,Sequeiros RB,Tervonen O,Solovieva S,Kao PY,Song YQ,Cheung KM,Chan D,Ala-Kokko L,Järvelin MR,Karppinen J,Männikkö M

更新日期：2011-11-22 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: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: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:We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis...

journal_title：BMC medical genetics

authors： Gu J,Zeng J,Wang X,Gu X,Zhang X,Zhang P,Zhang F,Han Y,Han Y,Zhang H,Li W,Gu R

更新日期：2019-12-16 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:Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whe...

journal_title：BMC medical genetics

authors： Merkelbach-Bruse S,Dietmaier W,Füzesi L,Gaumann A,Haller F,Kitz J,Krohn A,Mechtersheimer G,Penzel R,Schildhaus HU,Schneider-Stock R,Simon R,Wardelmann E

更新日期：2010-07-04 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 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:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...

journal_title：BMC medical genetics

authors： Sheng L,Zhang W,Gu J,Shen K,Luo H,Yang Y

更新日期：2019-02-19 00:00:00

abstract：BACKGROUND:Platelet-derived growth factor (PDGF) D has been reported to be active in fibroblasts, and in areas of myocardial infarction. In this longitudinal study we evaluated the association between PDGF-D polymorphism and cardiovascular mortality, and attempted to discover whether specific genotype differences regar...

journal_title：BMC medical genetics

authors： Alehagen U,Olsen RS,Länne T,Matussek A,Wågsäter D

更新日期：2016-09-01 00:00:00

abstract：BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...

journal_title：BMC medical genetics

authors： Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

更新日期：2019-11-21 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: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:Mitochondrial disorders are difficult to diagnose due to extreme genetic and phenotypic heterogeneities. METHODS:We explored the utility of targeted next-generation sequencing for the diagnosis of mitochondrial disorders in 148 patients submitted for clinical testing. A panel of 447 nuclear genes encoding m...

journal_title：BMC medical genetics

authors： DaRe JT,Vasta V,Penn J,Tran NT,Hahn SH

更新日期：2013-11-11 00:00:00

abstract：BACKGROUND:The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the function of the enzyme. The aim of this study is to investigate whether a non-synonymous Arg264Cy...

journal_title：BMC medical genetics

authors： Wang JZ,Deogan MS,Lewis JR,Chew S,Mullin BH,McNab TJ,Wilson SG,Ingley E,Prince RL

更新日期：2011-12-20 00:00:00

abstract：BACKGROUND:Preeclampsia is a frequent complication of pregnancy and a leading cause of perinatal mortality. Both genetic and environmental risk factors have been identified. Lipid metabolism, particularly cholesterol metabolism, is associated with this disease. Liver X receptors alpha (NR1H3, also known as LXRalpha) an...

journal_title：BMC medical genetics

authors： Mouzat K,Mercier E,Polge A,Evrard A,Baron S,Balducchi JP,Brouillet JP,Lumbroso S,Gris JC

更新日期：2011-10-26 00:00:00

abstract：BACKGROUND:Despite the important role of the nerve growth factor in the survival and maintenance of neurons in ischemic stroke, data regarding the relationships between variations in the encoding gene and stroke are lacking. In the present study, we evaluated the association of the functional polymorphisms in NGF (rs63...

journal_title：BMC medical genetics

authors： Stepanyan A,Zakharyan R,Simonyan A,Tsakanova G,Arakelyan A

更新日期：2018-03-02 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:Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS:We performed high-density genomewide linkage analysis and mutation screening of candidate genes t...

journal_title：BMC medical genetics

authors： Boyden SE,Duncan AR,Estrella EA,Lidov HG,Mahoney LJ,Katz JS,Kunkel LM,Kang PB

更新日期：2011-06-28 00:00:00

abstract：BACKGROUND:The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility. METHODS:Using appropriate keywords, we identified relevant studies using PubMed, Cochrane, Embase, CNKI, VAN...

journal_title：BMC medical genetics

authors： Huang R,Zhao SR,Li Y,Liu F,Gong Y,Xing J,Xu ZS

更新日期：2020-02-11 00:00:00