Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.

abstract：:We screened the protein-coding region of the peroxisome proliferator-activated receptor alpha gene (PPARA) and the flanking intron sequences for mutations in 57 unrelated Japanese subjects with maturity-onset diabetes of the young (MODY). We found three missense mutations, designated P22R, D140Y, and V227A. The D140Y ...

journal_title：Journal of human genetics

authors： Hara M,Wang X,Paz VP,Iwasaki N,Honda M,Iwamoto Y,Bell GI

更新日期：2001-01-01 00:00:00

abstract：:Recently, the use of genome-wide linkage disequilibrium (LD) analysis to localize traits has attracted much attention because of the introduction of high-throughput genotyping systems. However, a limitation of such studies is often the total cost of genotyping in addition to sample size. Therefore, it is important to ...

journal_title：Journal of human genetics

authors： Saito A,Kamatani N

更新日期：2002-01-01 00:00:00

abstract：:Mature-onset diabetes of the young, type 2 (MODY2) is associated with mutations in the glucokinase (GCK) gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work, we ...

journal_title：Journal of human genetics

authors： Estalella I,Garcia-Gimeno MA,Marina A,Castaño L,Sanz P

更新日期：2008-01-01 00:00:00

abstract：:The gene for Clara cell secretory protein (CC16) is an ideal candidate for investigating genetic predisposition to asthma because of its role in the airway as an anti-inflammatory molecule, differences in its levels between asthmatics and healthy controls, and its genetic location (11q13). We investigated the associat...

journal_title：Journal of human genetics

authors： Sharma S,Ghosh B

更新日期：2004-01-01 00:00:00

abstract：:Schizophrenia is a highly complex inheritable disease characterized by numerous genetic susceptibility elements, each contributing a modest increase in risk for the disease. Although numerous linkage or association studies have identified a large set of schizophrenia-associated loci, many are controversial. In additio...

journal_title：Journal of human genetics

authors： Chu TT,Liu Y

更新日期：2010-05-01 00:00:00

abstract：:In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recomb...

journal_title：Journal of human genetics

authors： Saito S,Kurosawa A,Adachi N

更新日期：2016-08-01 00:00:00

abstract：:The roles of the erythropoietin (Epo) 3' enhancer in the activation of gene expression in response to hypoxia were investigated. The enhancer contains hypoxia-inducible enhancer binding site 1 (HIF-1 element) and two direct repeats of hexanucleotide consensus nuclear receptor half site (HNF-4 element). HIF-1, which is...

journal_title：Journal of human genetics

authors： Zhang W,Tsuchiya T,Yasukochi Y

更新日期：1999-01-01 00:00:00

abstract：:The widely used Western BRCA mutation prediction models underestimated the risk of having a BRCA mutation in Korean breast cancer patients. This study aimed to identify predictive factors for BRCA1/2 mutations and to develop a Korean BRCA risk calculator. The model was constructed by logistic regression model, and it ...

journal_title：Journal of human genetics

authors： Kang E,Park SK,Lee JW,Kim Z,Noh WC,Jung Y,Yang JH,Jung SH,Kim SW

更新日期：2016-05-01 00:00:00

abstract：:We report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at birth, including bilateral cataracts, bilateral glaucoma, bilateral severe hearing impairment, congenital heart defect, umbilical herniation, bowed extremities and constrictions of various joints. The...

journal_title：Journal of human genetics

authors： Kondoh T,Okamoto N,Norimatsu N,Uetani M,Nishimura G,Moriuchi H

更新日期：2007-01-01 00:00:00

abstract：:A-kinase anchoring protein 95 (AKAP95) is a nuclear protein which binds to the regulatory subunit (RII) of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA) and to DNA. A novel nuclear human gene which shares sequence homology with the human AKAP95 gene was identified by a nuclear transportation tra...

journal_title：Journal of human genetics

authors： Seki N,Ueki N,Yano K,Saito T,Masuho Y,Muramatsu M

更新日期：2000-01-01 00:00:00

abstract：:MicroRNAs (miRNAs) are endogenous non-coding RNAs that function as negative regulators of gene expression. Alterations in miRNA expression have been shown to affect tumor growth and response to chemotherapy. In this study, we explored the possible role of miRNAs in cisplatin resistance in esophageal squamous cell carc...

journal_title：Journal of human genetics

authors： Imanaka Y,Tsuchiya S,Sato F,Shimada Y,Shimizu K,Tsujimoto G

更新日期：2011-04-01 00:00:00

abstract：:Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which t...

journal_title：Journal of human genetics

authors： Jang MA,Kim SY,Jeong BH,Park HY,Jeon K,Kim JW,Ki CS,Koh WJ

更新日期：2013-05-01 00:00:00

abstract：:Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations. Here, we aimed to evaluate the impacts of these novel loci on type 2 diabetes risk in a population-...

journal_title：Journal of human genetics

authors： Zhou DZ,Liu Y,Zhang D,Liu SM,Yu L,Yang YF,Zhao T,Chen Z,Kan MY,Zhang ZF,Feng GY,Xu H,He L

更新日期：2010-12-01 00:00:00

abstract：:Cytokines, having central functions in immunological and inflammatory process, are always expected to play important roles in the pathogenesis of various diseases, such as asthma. Genetic polymorphisms of those cytokine and cytokine receptor genes are the focus of genetic association studies. In an effort to identify ...

journal_title：Journal of human genetics

authors： Park BL,Kim LH,Choi YH,Lee JH,Rhim T,Lee YM,Uh ST,Park HS,Choi BW,Hong SJ,Park CS,Shin HD

更新日期：2004-01-01 00:00:00

abstract：:In Table 2, a column heading was inadvertently omitted. Corrected table is as follows. ...

journal_title：Journal of human genetics

authors： Paradisi I,Hernández A,Arias S

更新日期：2008-04-01 00:00:00

abstract：:Lafora disease (LD) is a rare autosomal recessive genetic disorder characterized by epilepsy, myoclonus, and progressive neurological deterioration. LD is caused by mutations in the EMP2A gene encoding a protein phosphatase. A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently ...

journal_title：Journal of human genetics

authors： Singh S,Suzuki T,Uchiyama A,Kumada S,Moriyama N,Hirose S,Takahashi Y,Sugie H,Mizoguchi K,Inoue Y,Kimura K,Sawaishi Y,Yamakawa K,Ganesh S

更新日期：2005-01-01 00:00:00

abstract：:Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. W...

journal_title：Journal of human genetics

authors： Higuchi S,Nakamura Y,Saito S

更新日期：2002-01-01 00:00:00

abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed ...

journal_title：Journal of human genetics

authors： Lee HH,Niu DM,Lin RW,Chan P,Lin CY

更新日期：2002-01-01 00:00:00

abstract：:The purpose of the present study was to understand the tissue specificity of DNA methylation and the relationship between methylation and expression of genes with essential roles in neurodevelopment and brain function. We chose dopamine receptor genes (DRD1 and DRD2), NCAM, and COMT as examples of genes with CpG islan...

journal_title：Journal of human genetics

authors： Shen HM,Nakamura A,Sugimoto J,Sakumoto N,Oda T,Jinno Y,Okazaki Y

更新日期：2006-01-01 00:00:00

abstract：:The Ras-CRK-Rap1 cellular signal-transduction system is regulated by guanine nucleotide exchange factors (GEFs). Transcription of C3G on chromosome 9q34 and a key member of the GEF gene family is activated by the CRK-adaptor protein; the C3G product is a CRK SH3 domain-binding guanine nucleotide-releasing factor. We d...

journal_title：Journal of human genetics

authors： Hirata T,Nagai H,Koizumi K,Okino K,Harada A,Onda M,Nagahata T,Mikami I,Hirai K,Haraguchi S,Jin E,Kawanami O,Shimizu K,Emi M

更新日期：2004-01-01 00:00:00

abstract：:Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with overlapping clinical presentation. Recently, a single nucleotide substitution in the 5'-untranslated region (UTR) of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 has been shown to be associate...

journal_title：Journal of human genetics

authors： Wieczorek S,Arning L,Alheite I,Epplen JT

更新日期：2006-01-01 00:00:00

abstract：:Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In con...

journal_title：Journal of human genetics

authors： Mizukoshi T,Tamaki K,Azumi J,Matsumoto H,Imai K,Jeffreys AJ

更新日期：2002-01-01 00:00:00

abstract：:Mutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p...

journal_title：Journal of human genetics

authors： Kim IJ,Kang HC,Shin Y,Park HW,Jang SG,Han SY,Lim SK,Lee MR,Chang HJ,Ku JL,Yang HK,Park JG

更新日期：2004-01-01 00:00:00

abstract：:Deletion of exons 45-55 (del45-55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good candidate for the goal of a multiple exon-skipping strategy. We have precisely characteri...

journal_title：Journal of human genetics

authors： Miyazaki D,Yoshida K,Fukushima K,Nakamura A,Suzuki K,Sato T,Takeda S,Ikeda S

更新日期：2009-02-01 00:00:00

abstract：:We determined polymorphism in the serotonin (5-HT) transporter gene-linked polymorphic region (5-HTTLPR) in 501 healthy Japanese, individuals, using the polymerase chain reaction of Lesch et al., with minor modifications. The distribution of allele frequencies was determined and found to differ from that in Caucasians...

journal_title：Journal of human genetics

authors： Murakami F,Shimomura T,Kotani K,Ikawa S,Nanba E,Adachi K

更新日期：1999-01-01 00:00:00

abstract：:Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotranspos...

journal_title：Journal of human genetics

authors： Miki Y

更新日期：1998-01-01 00:00:00

abstract：:Disrupted-in-schizophrenia 1 (DISC1) was reported to be associated with schizophrenia. In a previous study, we found significant association with schizophrenia patients with deficient sustained attention assessed by continuous performance test (CPT). This study aimed to identify risk polymorphisms in this specific neu...

journal_title：Journal of human genetics

authors： Liu CM,Liu YL,Hwu HG,Fann CS,Yang UC,Hsu PC,Chang CC,Chen WJ,Hwang TJ,Hsieh MH,Liu CC,Chien YL,Lin YT,Tsuang MT

更新日期：2019-07-01 00:00:00

abstract：:GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles ...

journal_title：Journal of human genetics

authors： Chen Y,Xi J,Zhu W,Lin J,Luo S,Yue D,Cai S,Sun C,Zhao C,Mitsuhashi S,Nishino I,Xu M,Lu J

更新日期：2019-01-01 00:00:00

abstract：:The Japanese Genetic Research Group for Eating Disorders (JGRED) is a multisite collaborative study group that was organized for the systematic recruitment of patients with an eating disorder for the purpose of genetic study in Japan. We conducted a genome-wide case-control association study using 23 465 highly polymo...

journal_title：Journal of human genetics

authors： Nakabayashi K,Komaki G,Tajima A,Ando T,Ishikawa M,Nomoto J,Hata K,Oka A,Inoko H,Sasazuki T,Japanese Genetic Research Group for Eating Disorders (JGRED).,Shirasawa S

更新日期：2009-09-01 00:00:00

abstract：:Factors predisposing to the phenotypic features of familial combined hyperlipidemia have not been clearly defined. In the course of investigating familial coronary artery disease in Utah, we identified a three-generation family in which multiple members were affected with type IIa hyperlipoproteinemia (HLP IIa), type ...

journal_title：Journal of human genetics

authors： Wu LL,Hopkins PN,Xin Y,Stephenson SH,Williams RR,Nobe Y,Kajita M,Nakajima T,Emi M

更新日期：2000-01-01 00:00:00