Y chromosome of Aisin Gioro, the imperial house of the Qing dynasty.

abstract：:Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2 gene may confer an increased lifetime risk of breast, pancreatic, ovarian and other c...

journal_title：Journal of human genetics

authors： Janssen B,Bellis S,Koller T,Tischkowitz M,Liau SS

更新日期：2020-01-01 00:00:00

abstract：:Hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) is an adult-onset peripheral neurodegenerative disorder which has been reported only in the Okinawa Islands, Japan. The disease locus of "Okinawa-type" HMSN-P has been previously mapped to 3q13.1, with all affected individuals sharing an identica...

journal_title：Journal of human genetics

authors： Maeda K,Kaji R,Yasuno K,Jambaldorj J,Nodera H,Takashima H,Nakagawa M,Makino S,Tamiya G

更新日期：2007-01-01 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：:We have isolated the murine counterpart of the human P2XM gene (mP2XM), a P2X purinoceptor that is expressed predominantly in skeletal muscle. The mP2XM gene, consisting of 12 exons that span 10 kb of genomic DNA, encodes a 379-amino-acid product with 83% identity to the human homologue. Two potential transmembrane do...

journal_title：Journal of human genetics

authors： Nawa G,Urano T,Tokino T,Ochi T,Miyoshi Y

更新日期：1998-01-01 00:00:00

abstract：:L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involve...

journal_title：Journal of human genetics

authors： Jellouli NK,Hadj Salem I,Ellouz E,Kamoun Z,kamoun F,tlili A,Kaabachi N,Triki C,Fakhfakh F,Tunisian Network on Mental Retardation study.

更新日期：2014-04-01 00:00:00

abstract：:Alcohol response is a genetically influenced trait, and there is significant variation in the patterns of alcohol consumption between Māori and Caucasians in New Zealand. Previous studies have found that a variant of the alcohol dehydrogenase (ADH) gene (ADH1B*47His) is associated with protection against alcohol depen...

journal_title：Journal of human genetics

authors： Hall DA,Chambers GK,Lea RA

更新日期：2007-01-01 00:00:00

abstract：:Panic disorder (PD) is a severe and chronic psychiatric disorder, with significant genetic components in the etiology. Brain-derived neurotrophic factor (BDNF) gene, which has regulatory effects on neurotransmitter systems such as serotonin and dopamine, is a candidate for susceptibility locus of PD. This study invest...

journal_title：Journal of human genetics

authors： Otowa T,Shimada T,Kawamura Y,Liu X,Inoue K,Sugaya N,Minato T,Nakagami R,Tochigi M,Umekage T,Kasai K,Kato N,Tanii H,Okazaki Y,Kaiya H,Sasaki T

更新日期：2009-08-01 00:00:00

abstract：:In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P5...

journal_title：Journal of human genetics

authors： Wei LH,Huang YZ,Yan S,Wen SQ,Wang LX,Du PX,Yao DL,Li SL,Yang YJ,Jin L,Li H

更新日期：2017-10-01 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：:Estrogen was considered to be an important protective factor for cardiovascular diseases in women. Genetic association studies suggested that variations of ESR1and ESR2 genes might have a potential role in lipid profile. Our study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) of ESR1 a...

journal_title：Journal of human genetics

authors： Zhao T,Zhang D,Liu Y,Zhou D,Chen Z,Yang Y,Li S,Yu L,Zhang Z,Feng G,He L,Xu H

更新日期：2010-01-01 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：: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：:Premature ovarian failure (POF) is a disorder characterized by amenorrhea and elevated serum gonadotropins before 40 years of age. As X chromosomal abnormalities are often recognized in POF patients, defects of X-linked gene may contribute to POF. Four cases of POF with t(X;autosome) were genetically analyzed. All the...

journal_title：Journal of human genetics

authors： Nishimura-Tadaki A,Wada T,Bano G,Gough K,Warner J,Kosho T,Ando N,Hamanoue H,Sakakibara H,Nishimura G,Tsurusaki Y,Doi H,Miyake N,Wakui K,Saitsu H,Fukushima Y,Hirahara F,Matsumoto N

更新日期：2011-02-01 00:00:00

abstract：:Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, whi...

journal_title：Journal of human genetics

authors： Busch CP,Harris SB,Hanley AJ,Zinman B,Hegele RA

更新日期：1999-01-01 00:00:00

abstract：:The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). I...

journal_title：Journal of human genetics

authors： Kobayashi M,Ohashi T,Kaneshiro E,Higuchi T,Ida H

更新日期：2019-07-01 00:00:00

abstract：:The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...

journal_title：Journal of human genetics

authors： Liu Y,Ordovas JM,Gao G,Province M,Straka RJ,Tsai MY,Lai CQ,Zhang K,Borecki I,Hixson JE,Allison DB,Arnett DK

更新日期：2008-01-01 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

abstract：:Dihydrotestosterone is crucial for normal development of external genitalia and prostate in the male embryo. Autosomal recessive mutations in the 5 alpha-reductase type 2 (SRD5A2) gene disrupt the synthesis of dihydrotestosterone in the urogenital tract and give rise to genetic males with undervirilized external genit...

journal_title：Journal of human genetics

authors： Vilchis F,Valdez E,Ramos L,García R,Gómez R,Chávez B

更新日期：2008-01-01 00:00:00

abstract：:Following the recent completion of the human genome sequence, genomics research has shifted its focus to understanding gene complexity, expression, and regulation. However, in order to investigate such issues, there is a need to develop a practical system for genomic DNA expression. Transformation-associated recombina...

journal_title：Journal of human genetics

authors： Ayabe F,Katoh M,Inoue T,Kouprina N,Larionov V,Oshimura M

更新日期：2005-01-01 00:00:00

abstract：:Site-1 protease (S1P) is a subtilisin-related enzyme that cleaves sterol regulatory element-binding proteins (SREBPs) in the lumen of endoplasmic reticulum, thereby initiating the release of transcriptionally active NH2-terminal fragments of SREBPs from membranes. In the experiments reported here, we localized the hum...

journal_title：Journal of human genetics

authors： Nakajima T,Iwaki K,Kodama T,Inazawa J,Emi M

更新日期：2000-01-01 00:00:00

abstract：:DNA variants in a 31-kb region of the human major histocompatibility complex, encompassing the tumor necrosis factor (TNF) gene cluster, were surveyed by direct sequencing of 283 unrelated individuals from six Chinese populations. A total of 273 polymorphic sites were identified, with nearly half of them novel. We obs...

journal_title：Journal of human genetics

authors： Zhang Y,Zhang F,Lin H,Shi L,Wang P,Shi L,Gong Q,Li X,Wang M,Hu S,Chu J,Wang DM

更新日期：2010-06-01 00:00:00

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：:In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms can influence the choice determining skewed X inactivation. As a con...

journal_title：Journal of human genetics

authors： Cau M,Addis M,Congiu R,Meloni C,Cao A,Santaniello S,Loi M,Emma F,Zuffardi O,Ciccone R,Sole G,Melis MA

更新日期：2006-01-01 00:00:00

abstract：:De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138...

journal_title：Journal of human genetics

authors： Bhola PT,Hartley T,Bareke E,Care4Rare Canada Consortium.,Boycott KM,Nikkel SM,Dyment DA

更新日期：2017-06-01 00:00:00

abstract：:Intracranial vertebral-basilar artery dissection (IVAD) is an arterial disorder leading to life-threatening consequences. Genetic factors are known to be causative to certain syndromic forms of IVAD. However, systematic study of the molecular basis of sporadic and isolated IVAD is lacking. To identify genetic variants...

journal_title：Journal of human genetics

authors： Wang K,Zhao S,Zhang Q,Yuan J,Liu J,Ding X,Song X,Lin J,Du R,Zhou Y,Sugimoto M,Chen W,Yuan B,Liu J,Yan Z,Liu B,Zhang Y,Li X,Niu Y,Long B,Shen Y,Zhang S,Abe K,Su J,Wu Z,Wu N,Liu P,Yang X,Deciphering

更新日期：2018-11-01 00:00:00

abstract：:Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations. The V190G, Q267R and F392I mutations are first reported in this study. The most common...

journal_title：Journal of human genetics

authors： Liang Y,Huang MZ,Cheng CY,Chao HK,Fwu VT,Chiang SH,Hsiao KJ,Niu DM,Su TS

更新日期：2014-03-01 00:00:00

abstract：:Recently, haplotype-based association studies have become popular for detecting disease-related or drug-response-associated genes. In these studies, it has been gradually recognized that a haplotype block structure is important. A rational and automatic method for identifying the haplotype block structure from SNP dat...

journal_title：Journal of human genetics

authors： Fujisawa H,Isomura M,Eguchi S,Ushijima M,Miyata S,Miki Y,Matsuura M

更新日期：2007-01-01 00:00:00

abstract：:Genetic and lifestyle factors are important in the pathogenesis of osteoporosis. We investigated the relationships of PvuII and XbaI polymorphisms of the estrogen receptor alpha (ER-alpha) gene, lifestyle factors with speed of sound at the calcaneus (calcaneal SOS) and osteoporosis in a population-based study of 140 h...

journal_title：Journal of human genetics

authors： Binh TQ,Shinka T,Khan NC,Hien VTT,Lam NT,Mai LB,Nakano T,Sei M,Yamamoto S,Nakamori M,Nakahori Y

更新日期：2006-01-01 00:00:00

abstract：:Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis...

journal_title：Journal of human genetics

authors： Yusoff NM,Van Rostenberghe H,Shirakawa T,Nishiyama K,Amin N,Darus Z,Zainal N,Isa N,Nozu H,Matsuo M

更新日期：2003-01-01 00:00:00

abstract：:Erythropoietic protoporphyria (EPP) is an inherited disorder, caused by a partial deficiency of ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway. The deficiency results in accumulation of protoporphyrin, primarily in erythroid cells, and the major clinical feature is cutaneous photosensitivity. ...

journal_title：Journal of human genetics

authors： Wiman A,Floderus Y,Harper P

更新日期：2003-01-01 00:00:00