Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.

abstract：:Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To...

journal_title：Journal of human genetics

authors： Keshavarz P,Inoue H,Sakamoto Y,Kunika K,Tanahashi T,Nakamura N,Yoshikawa T,Yasui N,Shiota H,Itakura M

更新日期：2006-01-01 00:00:00

abstract：:We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-re...

journal_title：Journal of human genetics

authors： Hirata K,Nakagawa M,Higuchi I,Hashimoto K,Hanada K,Takahashi K,Niiyama T,Izumi K,Sakoda S,Yamada H,Osame M

更新日期：1999-01-01 00:00:00

abstract：:Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrr...

journal_title：Journal of human genetics

authors： Guo L,Girisha KM,Iida A,Hebbar M,Shukla A,Shah H,Nishimura G,Matsumoto N,Nismath S,Miyake N,Ikegawa S

更新日期：2017-03-01 00:00:00

abstract：:WNK lysine-deficient protein kinase 1 (WNK1) is a member of the WNK family of serine/threonine kinases with no lysine (K), and these kinases have been implicated as important modulators of salt homeostasis in the kidney. It is well known that high dietary sodium and low dietary potassium have been implicated in the et...

journal_title：Journal of human genetics

authors： Osada Y,Miyauchi R,Goda T,Kasezawa N,Horiike H,Iida M,Sasaki S,Yamakawa-Kobayashi K

更新日期：2009-08-01 00:00:00

abstract：:Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...

journal_title：Journal of human genetics

authors： Nakano E,Yoshida A,Miyama Y,Yabuuchi T,Kajiho Y,Kanda S,Miura K,Oka A,Harita Y

更新日期：2020-10-01 00:00:00

abstract：:Several epidemiological and genetic studies have suggested that the risk of type II diabetes (T2D) is likely to overlap with the susceptibility to psychotic disorders such as schizophrenia (SCZ) and bipolar disorder (BD). In this study, we aimed to examine the association of single-nucleotide polymorphisms (SNPs) dete...

journal_title：Journal of human genetics

authors： Kajio Y,Kondo K,Saito T,Iwayama Y,Aleksic B,Yamada K,Toyota T,Hattori E,Ujike H,Inada T,Kunugi H,Kato T,Yoshikawa T,Ozaki N,Ikeda M,Iwata N

更新日期：2014-01-01 00:00:00

abstract：:The use of mixed models to determine narrow-sense heritability and related quantities such as SNP heritability has received much recent attention. Less attention has been paid to the inherent variability in these estimates. One approach for quantifying variability in estimates of heritability is a frequentist approach...

journal_title：Journal of human genetics

authors： Furlotte NA,Heckerman D,Lippert C

更新日期：2014-05-01 00:00:00

abstract：:Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without f...

journal_title：Journal of human genetics

authors： Tosetto E,Graziotto R,Artifoni L,Nachtigal J,Cascone C,Conz P,Piva M,Dell'Aquila R,De Paoli Vitali E,Citron L,Nalesso F,Antonello A,Vertolli U,Zagatti R,Lupo A,D'Angelo A,Anglani F,Gambaro G

更新日期：2006-01-01 00:00:00

abstract：:TDP2 encodes a 5'-tyrosyl DNA phosphodiesterase required for the efficient repair of double-strand breaks (DSBs) induced by the abortive activity of DNA topoisomerase II (TOP2). To date, only three homozygous variants in TDP2 have been reported in six patients from four unrelated pedigrees with spinocerebellar ataxia ...

journal_title：Journal of human genetics

authors： Errichiello E,Zagnoli-Vieira G,Rizzi R,Garavelli L,Caldecott KW,Zuffardi O

更新日期：2020-12-01 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：:Single nucleotide polymorphism (SNP) interaction plays a critical role for complex diseases. The primary limitation of logistic regressions (LR) in testing SNP-SNP interactions is that coefficient estimates may not be valid because of numerous terms in a model. Multivariate adaptive regression splines (MARS) have usef...

journal_title：Journal of human genetics

authors： Lin HY,Wang W,Liu YH,Soong SJ,York TP,Myers L,Hu JJ

更新日期：2008-01-01 00:00:00

abstract：:The prevalence of spermatogenic failure (SF) has gradually increased during the past few decades at least in several countries. Although multiple factors would be involved in this phenomenon, one important factor would be excessive estrogen effects via estrogen receptors (ERs). Thus, we performed haplotype analysis of...

journal_title：Journal of human genetics

authors： Ogata T,Fukami M,Yoshida R,Nagata E,Fujisawa Y,Yoshida A,Yoshimura Y

更新日期：2012-07-01 00:00:00

abstract：:A Polish family was identified in which multifocal clear cell renal carcinoma segregated with a balanced constitutional chromosome translocation, t(2:3)(q33;q21), similar to the renal cell cancer-associated t(2;3)(q35;q21) reported in a Dutch family. Bacterial artificial chromosome (BAC) contigs encompassing the 2q an...

journal_title：Journal of human genetics

authors： Podolski J,Byrski T,Zajaczek S,Druck T,Zimonjic DB,Popescu NC,Kata G,Borowka A,Gronwald J,Lubinski J,Huebner K

更新日期：2001-01-01 00:00:00

abstract：:Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal transloca...

journal_title：Journal of human genetics

authors： Kamimura J,Wakui K,Kadowaki H,Watanabe Y,Miyake K,Harada N,Sakamoto M,Kinoshita A,Yoshiura KI,Ohta T,Kishino T,Ishikawa M,Kasuga M,Fukushima Y,Niikawa N,Matsumoto N

更新日期：2004-01-01 00:00:00

abstract：:We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in nine genes encoding components of ATP-binding cassette subfamily B (ABCB/MDR/TAP) by directly sequencing the entire applicable genomic regions except for repetitive elements. This approach identified 297 SNPs and 29 insertion/d...

journal_title：Journal of human genetics

authors： Saito S,Iida A,Sekine A,Miura Y,Ogawa C,Kawauchi S,Higuchi S,Nakamura Y

更新日期：2002-01-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we ...

journal_title：Journal of human genetics

authors： Maeda N,Horie Y,Adachi K,Nanba E,Kawasaki H,Daimon M,Kudo Y,Kondo M

更新日期：2000-01-01 00:00:00

abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Journal of human genetics

authors： Terasaki A,Nakamura M,Urata Y,Hiwatashi H,Yokoyama I,Yasuda T,Onuma T,Wada K,Kaneko S,Kan R,Niwa SI,Hashimoto O,Komure O,Goto YI,Yamagishi Y,Nakano M,Furusawa Y,Sano A

更新日期：2020-11-13 00:00:00

abstract：:Infantile hypertrophic pyloric stenosis (IHPS) is a multifactorial heritable condition affecting infants in the first 3 months of life. It is characterized by hypertrophy of the pylorus resulting in blockage of the pyloric canal. Patients present with projectile vomiting, weight loss and dehydration. Five susceptibili...

journal_title：Journal of human genetics

authors： Everett KV,Chung EM

更新日期：2013-04-01 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：:A recent association study suggested that the His113 variant of microsomal epoxide hydrolase (mEPHX) may confer a risk for development of emphysema, presumably by increasing susceptibility to smoking injury. Before considering a possible role of this enzyme in pulmonary disease, we attempted to characterize the geneti...

journal_title：Journal of human genetics

authors： Keicho N,Emi M,Kajita M,Matsushita I,Nakata K,Azuma A,Ohishi N,Kudoh S

更新日期：2001-01-01 00:00:00

abstract：:Takayasu arteritis (TAK) is an immune-mediated vasculitis affecting large arteries first reported in 1908 from Japan. Case reports of familial onset of TAK from Japan and other countries indicated genetic contribution to TAK onset beyond ethnicity. Genetic studies of TAK have been performed mainly addressing the human...

journal_title：Journal of human genetics

authors： Terao C

更新日期：2016-01-01 00:00:00

abstract：:BBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)-an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure. The identification of BBS8 gave the key to the pathogenesis of the condition as a primary ciliary disor...

journal_title：Journal of human genetics

authors： Stoetzel C,Laurier V,Faivre L,Mégarbané A,Perrin-Schmitt F,Verloes A,Bonneau D,Mandel JL,Cossee M,Dollfus H

更新日期：2006-01-01 00:00:00

abstract：:Familial recurrence of anorectal malformations (ARMs) has been reported in single institution case series and in two population-based studies. Here, we investigate the familial aggregation of ARMs using well-established, unbiased methods in a population genealogy of Utah. Study subjects included 255 ARM cases identifi...

journal_title：Journal of human genetics

authors： Teerlink CC,Bernhisel R,Cannon-Albright LA,Rollins MD

更新日期：2018-10-01 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：:Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese obs...

journal_title：Journal of human genetics

authors： Zimowski JG,Pawelec M,Purzycka JK,Szirkowiec W,Zaremba J

更新日期：2017-10-01 00:00:00

abstract：:Chromosome 5, especially the 5q31-33 region, may contain one or more loci to control total serum IgE as well as asthma and bronchial hyperresponsiveness. To investigate the regions related with IgE level in chromosome 5, we performed a case-control association study on 105 high-IgE-level and 85 normal-IgE-level asthma...

journal_title：Journal of human genetics

authors： Wang JY,Wang LM,Lin CG,Chang AC,Wu LS

更新日期：2005-01-01 00:00:00

abstract：:Genome-wide association studies and integrative genomics approaches have demonstrated significant associations between chronic obstructive pulmonary disease (COPD) and single-nucleotide polymorphisms (SNPs) in the chromosome 15q25 region that includes iron-responsive element binding protein 2 gene (IREB2) and CHRNA3/5...

journal_title：Journal of human genetics

authors： Zhou H,Yang J,Li D,Xiao J,Wang B,Wang L,Ma C,Xu S,Ou X,Feng Y

更新日期：2012-11-26 00:00:00

abstract：:Diffuse panbronchiolitis (DPB) is a distinctive chronic inflammatory lung disease predominantly found in Asian populations. Although its etiology is unknown, DPB is considered to be a multifactorial disease of whose susceptibility is determined by genetic predisposition unique to Asians. We and others have previously ...

journal_title：Journal of human genetics

authors： Emi M,Keicho N,Tokunaga K,Katsumata H,Souma S,Nakata K,Taguchi Y,Ohishi N,Azuma A,Kudoh S

更新日期：1999-01-01 00:00:00

abstract：:The objective of this study was to investigate the overall contribution of genetic and environmental effects on poor response to hepatitis B virus (HBV) vaccination in Chinese infants. One-year-old healthy twins were recruited from child-care settings. Parental factors, neonates' condition at birth, postnatal infant f...

journal_title：Journal of human genetics

authors： Yan K,Cai W,Cao F,Sun H,Chen S,Xu R,Wei X,Shi X,Yan W

更新日期：2013-05-01 00:00:00

abstract：:Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease ha...

journal_title：Journal of human genetics

authors： Bilal Shamsi M,Saleh M,Almuntashri M,Alharby E,Samman M,Peake RWA,Al-Fadhli FM,Alasmari A,Faqeih EA,Almontashiri NAM

更新日期：2021-01-27 00:00:00