Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.

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: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: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: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:Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessiv...

journal_title：BMC medical genetics

authors： Bordbar MR,Modarresi F,Farazi Fard MA,Dastsooz H,Shakib Azad N,Faghihi MA

更新日期：2017-05-03 00:00:00

abstract：BACKGROUND:Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. METHODS:We used genome-wide linkage analysis and whole-exome sequencing in c...

journal_title：BMC medical genetics

authors： Tan Z,Zeng H,Xu Z,Tian Q,Gao X,Zhou C,Zheng Y,Wang J,Ling G,Wang B,Yang Y,Ma L

更新日期：2018-07-05 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:Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatological, cardiovascular, optic, or hearing disorders). However, it does not always present this way. Rece...

journal_title：BMC medical genetics

authors： Aoyama KI,Kimura M,Yamazaki H,Uchibori M,Kojima R,Osawa Y,Hosomichi K,Ota Y,Tanaka M,Yamada S,Nishimura G

更新日期：2019-07-16 00:00:00

abstract：BACKGROUND:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have b...

journal_title：BMC medical genetics

authors： Youssefian L,Vahidnezhad H,Touati A,Ziaee V,Saeidian AH,Pajouhanfar S,Zeinali S,Uitto J

更新日期：2018-05-25 00:00:00

abstract：BACKGROUND:Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normall...

journal_title：BMC medical genetics

authors： Tang F,Ma D,Wang Y,Qiu Y,Liu F,Wang Q,Lu Q,Shi M,Xu L,Liu M,Liang J

更新日期：2017-03-23 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: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:Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes ...

journal_title：BMC medical genetics

authors： Rocca MS,Piatti G,Michelucci A,Guazzo R,Bertini V,Vinanzi C,Caligo MA,Valetto A,Foresta C

更新日期：2020-11-10 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: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: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

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:The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its asso...

journal_title：BMC medical genetics

authors： Cavallari U,Trabetti E,Malerba G,Biscuola M,Girelli D,Olivieri O,Martinelli N,Angiolillo DJ,Corrocher R,Pignatti PF

更新日期：2007-09-05 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:Inflammation is a response of body tissues to injury or irritation. Small RNAs, such as miR-146a and miR-499, participate in various processes of tumorigenesis. A recent study indicates that inflammation and abnormal immune responses may promote malignant progression in cancer development, indicating that in...

journal_title：BMC medical genetics

authors： Liu J,Xie B,Chen S,Jiang F,Meng W

更新日期：2014-08-10 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:The PALB2 c.2323C>T [p.Q775X] mutation has been reported in at least three breast cancer families and breast cancer cases of French Canadian descent and this has been attributed to common ancestors. The number of mutation-positive cases reported varied based on criteria of ascertainment of index cases tested...

journal_title：BMC medical genetics

authors： Tischkowitz M,Sabbaghian N,Hamel N,Pouchet C,Foulkes WD,Mes-Masson AM,Provencher DM,Tonin PN

更新日期：2013-01-09 00:00:00

abstract：BACKGROUND:Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and therefore, influence the expression of mature miRNAs. Previous studies generated conflicting results when ...

journal_title：BMC medical genetics

authors： Linhares JJ,Azevedo M Jr,Siufi AA,de Carvalho CV,Wolgien Mdel C,Noronha EC,Bonetti TC,da Silva ID

更新日期：2012-12-10 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 relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a s...

journal_title：BMC medical genetics

authors： Shah SS,Macharia A,Makale J,Uyoga S,Kivinen K,Craik R,Hubbart C,Wellems TE,Rockett KA,Kwiatkowski DP,Williams TN

更新日期：2014-09-09 00:00:00

abstract：BACKGROUND:The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health amo...

journal_title：BMC medical genetics

authors： Hamang A,Eide GE,Nordin K,Rokne B,Bjorvatn C,Øyen N

更新日期：2010-02-17 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: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:Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide screen, we reported linkage of autism with a 1.2 Megabase interval on chromosome 5q31. For the current s...

journal_title：BMC medical genetics

authors： Philippi A,Tores F,Carayol J,Rousseau F,Letexier M,Roschmann E,Lindenbaum P,Benajjou A,Fontaine K,Vazart C,Gesnouin P,Brooks P,Hager J

更新日期：2007-12-06 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