First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.

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: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:CALM1 gene encodes calmodulin (CaM), an important and ubiquitous eukaryotic Ca2+-binding protein. Several studies have indicated that a deficient CaM function is likely to be involved in the pathogenesis of osteoarthritis (OA). Using a convincing genome-wide association study, a Japanese group has recently d...

journal_title：BMC medical genetics

authors： Shi D,Ni H,Dai J,Qin J,Xu Y,Zhu L,Yao C,Shao Z,Chen D,Xu Z,Yi L,Ikegawa S,Jiang Q

更新日期：2008-10-22 00:00:00

abstract：BACKGROUND:Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermittent fever, and long clubbed fi...

journal_title：BMC medical genetics

authors： Jia T,Zheng Y,Feng C,Yang T,Geng S

更新日期：2020-06-08 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 present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...

journal_title：BMC medical genetics

authors： Pacho A,Mancebo E,del Rey MJ,Castro MJ,Oliver D,García-Berciano M,González L,Morales P

更新日期：2004-10-21 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:Rs189037 (G > A) is a functional single nucleotide polymorphism (SNP) in the Ataxia-telangiectasia mutated (ATM) gene that may be associated with the risk of cancer. We performed a meta-analysis to determine whether rs189037 polymorphism influences the occurrence of cancer and examined the relationship betwe...

journal_title：BMC medical genetics

authors： Zhao ZL,Xia L,Zhao C,Yao J

更新日期：2019-02-01 00:00:00

abstract：BACKGROUND:Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation ...

journal_title：BMC medical genetics

authors： Nonose RW,Lezirovitz K,de Mello Auricchio MTB,Batissoco AC,Yamamoto GL,Mingroni-Netto RC

更新日期：2018-05-08 00:00:00

abstract：BACKGROUND:Insulin like growth factor 2 (IGF2) is an imprinted gene, which has an important role in fetal growth as established in mice models. IGF2 is downregulated through hypomethylation of a differentially methylated region (DMR) in Silver Russell syndrome (SRS), characterised by growth restriction. We have previou...

journal_title：BMC medical genetics

authors： Murphy R,Ibáñez L,Hattersley A,Tost J

更新日期：2012-05-30 00:00:00

abstract：BACKGROUND:To determine association of nine single nucleotide polymorphisms (SNPs) in ADP ribosyltransferase-1 (ADPRT1), aldo-keto reductase family 1 member B1 (AKR1B1), receptor for advanced glycation end-products (RAGE), glutamine:fructose-6-phosphate amidotransferase-2 (GFPT2), and plasminogen activator inhibitor-1 ...

journal_title：BMC medical genetics

authors： Prasad P,Tiwari AK,Kumar KM,Ammini AC,Gupta A,Gupta R,Thelma BK

更新日期：2010-03-31 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:The TPH2 gene encodes the enzyme responsible for serotonin (5-HT) synthesis in the Central Nervous System (CNS). Stereotypic and repetitive behaviors are influenced by 5-HT, and initial studies report an association of TPH2 alleles with childhood-onset obsessive-compulsive disorder (OCD) and with autism. GLO...

journal_title：BMC medical genetics

authors： Sacco R,Papaleo V,Hager J,Rousseau F,Moessner R,Militerni R,Bravaccio C,Trillo S,Schneider C,Melmed R,Elia M,Curatolo P,Manzi B,Pascucci T,Puglisi-Allegra S,Reichelt KL,Persico AM

更新日期：2007-03-08 00:00:00

abstract：BACKGROUND:Fabry disease (FD, OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While the progressive systemic deposition of uncleaved glycosphingolipids throughout the body is known to have protean clinical manifestation...

journal_title：BMC medical genetics

authors： Germain DP,Avan P,Chassaing A,Bonfils P

更新日期：2002-10-11 00:00:00

abstract：BACKGROUND:A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Indian women. We investigated the distribution and the nature of BRCA1 and BRCA2 germline mutations and po...

journal_title：BMC medical genetics

authors： Saxena S,Chakraborty A,Kaushal M,Kotwal S,Bhatanager D,Mohil RS,Chintamani C,Aggarwal AK,Sharma VK,Sharma PC,Lenoir G,Goldgar DE,Szabo CI

更新日期：2006-10-04 00:00:00

abstract：BACKGROUND:Dengue hemorrhagic fever (DHF) is a severe life-threatening form of dengue infection. Low platelet count is one of the characteristic clinical manifestations in patients with severe dengue. However, little is known about genetic factors in the host that cause low platelet count in patients with dengue. METH...

journal_title：BMC medical genetics

authors： Dang TN,Naka I,Sa-Ngasang A,Anantapreecha S,Wichukchinda N,Sawanpanyalert P,Patarapotikul J,Tsuchiya N,Ohashi J

更新日期：2016-07-11 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:Prostate cancer is a heterogeneous disease, meaning patients would benefit from different treatment strategies based on their molecular stratification. In recent years, several genomic studies have identified prostate cancers with defects in DNA repair genes. It is known that the PARP inhibitor, olaparib, ha...

journal_title：BMC medical genetics

authors： Ma Y,He L,Huang Q,Zheng S,Zhang Z,Li H,Liu S

更新日期：2018-10-17 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: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: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:Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC)...

journal_title：BMC medical genetics

authors： Sajjadi-Jazi SM,Soltani A,Enayati S,Kakavand Hamidi A,Amoli MM

更新日期：2019-08-16 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:Six asthma candidate genes, ADAM33, NPSR1, PHF11, DPP10, HLA-G, and CYFIP2, located at different chromosome regions have been positionally cloned following the reported linkage studies. For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian po...

journal_title：BMC medical genetics

authors： Zhou H,Hong X,Jiang S,Dong H,Xu X,Xu X

更新日期：2009-12-01 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

abstract：BACKGROUND:Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation. METHODS:Doppler echocard...

journal_title：BMC medical genetics

authors： Tang W,Devereux RB,Li N,Oberman A,Kitzman DW,Rao DC,Hopkins PN,Claas SA,Arnett DK

更新日期：2009-05-09 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:FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we ha...

journal_title：BMC medical genetics

authors： Nguyen-Dumont T,Myszka A,Karpinski P,Sasiadek MM,Akopyan H,Hammet F,Tsimiklis H,Park DJ,Pope BJ,Slezak R,Kitsera N,Siekierzynska A,Southey MC

更新日期：2018-01-19 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:Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome ...

journal_title：BMC medical genetics

authors： Li JL,Hayden MR,Warby SC,Durr A,Morrison PJ,Nance M,Ross CA,Margolis RL,Rosenblatt A,Squitieri F,Frati L,Gómez-Tortosa E,García CA,Suchowersky O,Klimek ML,Trent RJ,McCusker E,Novelletto A,Frontali M,Paulsen JS,Jon

更新日期：2006-08-17 00:00:00