Tissue-specific differentially methylated regions of the human VASA gene are potentially associated with maturation arrest phenotype in the testis.

abstract：:The DExH/D-box superfamily of RNA helicases seems to play key roles during RNA metabolism, such as pre-mRNA splicing, ribosome biogenesis, and others. We have cloned a new gene of the DEAH-box protein subgroup, designated DDX40 (DEAD/H-box polypeptide 40 gene). DDX40 contains 3656 nucleotides and codes for a putative ...

journal_title：Journal of human genetics

authors： Xu J,Wu H,Zhang C,Cao Y,Wang L,Zeng L,Ye X,Wu Q,Dai J,Xie Y,Mao Y

更新日期：2002-01-01 00:00:00

abstract：:Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y ...

journal_title：Journal of human genetics

authors： Yu M,Zhang Y,Xue Y,Chen F,Wang Q,Huang X,Wang B,Yu Y,Liu A,Ma L,Shi R,Lu F,Shi Z,Zhang Y,Cheng W,Ai Q,Xu F,Huang C,Chen B,Yang H,Kang X,Sun Y,Zhang G,Li P,Fu S

更新日期：2002-01-01 00:00:00

abstract：:We determined the genomic structure of the human gene encoding 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate and is the rate-limiting and major regulatory enzyme in sterol biosynthesis. The gene is more than 21 kb long, about five times the size of i...

journal_title：Journal of human genetics

authors： Nakajima T,Iwaki K,Hamakubo T,Kodama T,Emi M

更新日期：2000-01-01 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：: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：:Genetic studies of neuropsychiatric disorders have often produced conflicting results, which might partly result from the involvement of epigenetic modifications. We intended to explore the possible implication of DNA methylation and human endogenous retroviruses (HERVs) in neuropsychiatric disorders. In the present s...

journal_title：Journal of human genetics

authors： Nakamura A,Okazaki Y,Sugimoto J,Oda T,Jinno Y

更新日期：2003-01-01 00:00:00

abstract：:The genomes of outbred populations were first shown in 2006 to contain regions of homozygosity (ROHs) of several megabases. Further studies have also investigated the characteristics of ROHs in healthy individuals in various populations but there are no studies on Singapore populations to date. This study aims to iden...

journal_title：Journal of human genetics

authors： Teo SM,Ku CS,Salim A,Naidoo N,Chia KS,Pawitan Y

更新日期：2012-02-01 00:00:00

abstract：:The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GD...

journal_title：Journal of human genetics

authors： Abe A,Numakura C,Saito K,Koide H,Oka N,Honma A,Kishikawa Y,Hayasaka K

更新日期：2009-02-01 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：:Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple H...

journal_title：Journal of human genetics

authors： Boda H,Uchida H,Takaiso N,Ouchi Y,Fujita N,Kuno A,Hata T,Nagatani A,Funamoto Y,Miyata M,Yoshikawa T,Kurahashi H,Inagaki H

更新日期：2016-08-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leverage...

journal_title：Journal of human genetics

authors： Ghanbari M,Peters MJ,de Vries PS,Boer CG,van Rooij JGJ,Lee YC,Kumar V,Uitterlinden AG,Ikram MA,Wijmenga C,Ordovas JM,Smith CE,van Meurs JBJ,Erkeland SJ,Franco OH,Dehghan A

更新日期：2018-04-01 00:00:00

abstract：:alpha-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions. and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular dise...

journal_title：Journal of human genetics

authors： Tachikawa H,Tsuda M,Onoe K,Ueno M,Takagi S,Shinohara Y

更新日期：2001-01-01 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：: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：:Tol2 is an active DNA-based transposable element identified in the medaka fish, Oryzias latipes. Originating from a vertebrate and belonging to the hAT ( hobo/ Activator/ Tam3) transposable element family, featuring a wide distribution among organisms, Tol2 would be expected to be active if introduced into mammals. We...

journal_title：Journal of human genetics

authors： Koga A,Iida A,Kamiya M,Hayashi R,Hori H,Ishikawa Y,Tachibana A

更新日期：2003-01-01 00:00:00

abstract：:Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impair...

journal_title：Journal of human genetics

authors： Atwal PS,Medina CR,Burrage LC,Sutton VR

更新日期：2016-07-01 00:00:00

abstract：:Human APOBEC3H (A3H) is a member of APOBEC cytidine deaminase family intensively constraining the HIV-1 replication. A3H is known to be polymorphic with different protein stability and anti-HIV-1 activity in vitro. We recently reported that A3H haplotypes composed of two functional polymorphisms, rs139292 (N15del) and...

journal_title：Journal of human genetics

authors： Naruse TK,Sakurai D,Ohtani H,Sharma G,Sharma SK,Vajpayee M,Mehra NK,Kaur G,Kimura A

更新日期：2016-03-01 00:00:00

abstract：:The expansion of polyalanine repeats is known to cause at least nine disorders, including congenital central hypoventilation syndrome (CCHS). Unequal crossover has been speculated as the expanding mechanism, in contrast to strand slippage in polyglutamine expansion disorders. We carried out segregation analysis of PHO...

journal_title：Journal of human genetics

authors： Arai H,Otagiri T,Sasaki A,Hashimoto T,Umetsu K,Tokunaga K,Hayasaka K

更新日期：2007-01-01 00:00:00

abstract：:Schimmelpenning syndrome is a rare neurocutaneous disorder categorized as a mosaic RASopathy due to postzygotic HRAS or KRAS mutations. We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. The patient had three atypical symptoms of Schimmelpenning syndrome: renov...

journal_title：Journal of human genetics

authors： Nagatsuma M,Takasawa K,Yamauchi T,Nakagawa R,Mizuno T,Tanaka E,Yamamoto K,Uemura N,Kashimada K,Morio T

更新日期：2019-02-01 00:00:00

abstract：:Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, ...

journal_title：Journal of human genetics

authors： Wang B,Zhou Y,Leng S,Zheng L,Lv H,Wang F,Tan LH,Sun Y

更新日期：2017-02-01 00:00:00

abstract：:Prader-Willi syndrome (PWS) is primarily caused by deletions involving the paternally derived imprinted region at chromosome 15q11.2-q13 and maternal uniparental disomy 15 (upd(15)mat). The underlying mechanisms for upd(15)mat include trisomy rescue (TR), gamete complementation (GC), monosomy rescue and post-fertiliza...

journal_title：Journal of human genetics

authors： Matsubara K,Murakami N,Nagai T,Ogata T

更新日期：2011-08-01 00:00:00

abstract：:Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and intellectual disability. AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly variable features. PP...

journal_title：Journal of human genetics

authors： Izzi B,de Zegher F,Francois I,del Favero J,Goossens D,Wittevrongel C,Thys C,Van Geet C,Freson K

更新日期：2012-04-01 00:00:00

abstract：:Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrel...

journal_title：Journal of human genetics

authors： McDonald KK,Abramson K,Beltran MA,Ramirez MG,Alvarez M,Ventura A,Santiago-Turla C,Schmidt S,Hauser MA,Allingham RR

更新日期：2010-10-01 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：:Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missort...

journal_title：Journal of human genetics

authors： Velho RV,Ludwig NF,Alegra T,Sperb-Ludwig F,Guarany NR,Matte U,Schwartz IV

更新日期：2016-06-01 00:00:00

abstract：:Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chrom...

journal_title：Journal of human genetics

authors： Wang H,Wang X,He C,Li H,Qing J,Grati M,Hu Z,Li J,Hu Y,Xia K,Mei L,Wang X,Yu J,Chen H,Jiang L,Liu Y,Men M,Zhang H,Guan L,Xiao J,Zhang J,Liu X,Feng Y

更新日期：2015-03-01 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：:Genome-wide association studies (GWAS) are being conducted to identify common genetic variants that predispose to human diseases to unravel the genetic etiology of complex human diseases now. Because of genotyping cost constraints, it often follows a two-stage design, in which a large number of markers are identified ...

journal_title：Journal of human genetics

authors： Kang G,Zuo Y

更新日期：2007-01-01 00:00:00

abstract：:We found a novel A-->C change in codon 511 of the ARNT gene, which predicted the substitution of Asn (AAC) for Asp (GAC) at this position. Amplification using mismatched primers allowed the ARNT D/N511 polymorphism to be detected by digestion with endonuclease Tth111I. The frequency of the ARNT N511 allele was 0.019 i...

journal_title：Journal of human genetics

authors： Cao H,Hegele RA

更新日期：2000-01-01 00:00:00

abstract：:Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and ...

journal_title：Journal of human genetics

authors： Sakamoto M,Kouhei D,Haniffa M,Silva S,Troncoso M,Santander P,Schonstedt V,Stecher X,Okamoto N,Hamanaka K,Mizuguchi T,Mitsuhashi S,Miyake N,Matsumoto N

更新日期：2020-09-01 00:00:00