A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders.

abstract：:We have performed a comprehensive analysis of gene-expression profiles in human articular cartilage (hyaline cartilage) and meniscus (fibrocartilage) by means of a cDNA microarray consisting of 23,040 human genes. Comparing the profiles of the two types of cartilage with those of 29 other normal human tissues identifi...

journal_title：Journal of human genetics

authors： Ochi K,Daigo Y,Katagiri T,Saito-Hisaminato A,Tsunoda T,Toyama Y,Matsumoto H,Nakamura Y

更新日期：2003-01-01 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：:Mutations in BRCA genes elevate risk for breast and ovarian cancer. These mutations are population specific. As there are no data on BRCA mutation screening on larger number of probands in Serbia to date, aim of this study was to determine types and frequencies of BRCA mutations in individuals from high-risk families ...

journal_title：Journal of human genetics

authors： Dobričić J,Krivokuća A,Brotto K,Mališić E,Radulović S,Branković-Magić M

更新日期：2013-08-01 00:00:00

abstract：:Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative frequency of each subtype vary among different populations. In this article, we report the relative frequency of six SCA subtypes in the Thai population and attempt to explain the observed pattern...

journal_title：Journal of human genetics

authors： Sura T,Eu-Ahsunthornwattana J,Youngcharoen S,Busabaratana M,Dejsuphong D,Trachoo O,Theerasasawat S,Tunteeratum A,Noparutchanodom C,Tunlayadechanont S

更新日期：2009-05-01 00:00:00

abstract：:Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. N...

journal_title：Journal of human genetics

authors： Chen Q,Zhao Y,Qian Y,Lu C,Shen G,Dai J

更新日期：2019-09-01 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：:Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...

journal_title：Journal of human genetics

authors： Zhu MM,Li HL,Shi LH,Chen XP,Luo J,Zhang ZL

更新日期：2017-12-01 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：: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：: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：: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：:Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder that is clinically characterized by cerebellar ataxia and various associated symptoms. The disease is caused by an unstable expansion of the CAG repeat in the MJD gene. This gene is mapped to chromosome 14q32.1. To determine its genomic s...

journal_title：Journal of human genetics

authors： Ichikawa Y,Goto J,Hattori M,Toyoda A,Ishii K,Jeong SY,Hashida H,Masuda N,Ogata K,Kasai F,Hirai M,Maciel P,Rouleau GA,Sakaki Y,Kanazawa I

更新日期：2001-01-01 00:00:00

abstract：:MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...

journal_title：Journal of human genetics

authors： Nakayama K,Yanagisawa Y,Ogawa A,Ishizuka Y,Munkhtulga L,Charupoonphol P,Supannnatas S,Kuartei S,Chimedregzen U,Koda Y,Ishida T,Kagawa Y,Iwamoto S

更新日期：2011-12-01 00:00:00

abstract：:We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 ...

journal_title：Journal of human genetics

authors： Iida A,Ohnishi Y,Ozaki K,Ariji Y,Nakamura Y,Tanaka T

更新日期：2001-01-01 00:00:00

abstract：:Osteoprotegerin (OPG), a secreted glycoprotein and a member of the tumor necrosis factor receptor superfamily, is considered to play an important role in the regulation of bone resorption by modifying osteoclast differentiation. Overexpression of OPG in mice has been reported to result in osteopetrosis, whereas target...

journal_title：Journal of human genetics

authors： Ohmori H,Makita Y,Funamizu M,Hirooka K,Hosoi T,Orimo H,Suzuki T,Ikari K,Nakajima T,Inoue I,Hata A

更新日期：2002-01-01 00:00:00

abstract：:A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...

journal_title：Journal of human genetics

authors： Shi X,Huang MC,Ishii A,Yoshida S,Okada M,Morita K,Nagafuji H,Yasumoto S,Kaneko S,Kojima T,Hirose S

更新日期：2010-06-01 00:00:00

abstract：:An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease. ...

journal_title：Journal of human genetics

authors： Ogawa A,Yamamoto S,Takayanagi M,Kogo T,Kanazawa M,Kohno Y

更新日期：1999-01-01 00:00:00

abstract：:The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was sequenced in 79 unrel...

journal_title：Journal of human genetics

authors： Liu MY,Yang YL,Chang YC,Chiang SH,Lin SP,Han LS,Qi Y,Hsiao KJ,Liu TT

更新日期：2010-09-01 00:00:00

abstract：:Broad-spectrum autism, referred to as pervasive developmental disorder (PDD), may be associated with genetic factors. We examined 241 siblings in 269 Japanese families with affected children. The sibling incidence of PDD was 10.0% whereas the prevalence of PDD in the general population in the same geographic region wa...

journal_title：Journal of human genetics

authors： Sumi S,Taniai H,Miyachi T,Tanemura M

更新日期：2006-01-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...

journal_title：Journal of human genetics

authors： Kamikawaji K,Seki N,Watanabe M,Mataki H,Kumamoto T,Takagi K,Mizuno K,Inoue H

更新日期：2016-12-01 00:00:00

abstract：:The mechanism of speciation has remained largely unresolved, and hominoid evolutionary history based on chromosome rearrangements has been continuously challenged. The recent availability of the human-derived chromosome 1-specific midisatellite (D1Z2) and chromosome X-specific macrosatellite (DXZ4) DNA sequence probes...

journal_title：Journal of human genetics

authors： Samonte RV,Conte RA,Verma RS

更新日期：1999-01-01 00:00:00

abstract：:Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...

journal_title：Journal of human genetics

authors： Suzuki K,Izpisua Belmonte JC

更新日期：2018-02-01 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：:CRISPR/Cas9-based tools have rapidly developed in recent years. These include CRISPR-based gene activation (CRISPRa) or inhibition (CRISPRi), for which there are libraries. CRISPR libraries for loss of function have been widely used to identify new biological mechanisms, such as drug resistance and cell survival signa...

journal_title：Journal of human genetics

authors： Kurata M,Yamamoto K,Moriarity BS,Kitagawa M,Largaespada DA

更新日期：2018-02-01 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：:We used magnetic resonance imaging (MRI) to examine the brain of a typical Coffin-Lowry syndrome (CLS) patient. There were many small perivascular focal areas of hypointensity in the white matter on T1-weighted images, similar to those found in mucopolysaccharidosis or perivascular leukomalacia. However, these changes...

journal_title：Journal of human genetics

authors： Kondoh T,Matsumoto T,Ochi M,Sukegawa K,Tsuji Y

更新日期：1998-01-01 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：: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：:Association studies on the MTHFR polymorphisms (C677T and A1298C) in colorectal cancer (CRC) and colorectal adenoma have shown conflicting results. We performed a meta-analysis to better assess the purported associations. Overall, the 677T allele (10,131 patients and 15,362 controls) showed a small but significant pro...

journal_title：Journal of human genetics

authors： Huang Y,Han S,Li Y,Mao Y,Xie Y

更新日期：2007-01-01 00:00:00

abstract：:Germline mutations of the EVER1/TMC6 gene are associated with epidermodysplasia verruciformis (EV), which is characterized by an abnormal susceptibility to human papillomaviruses that were considered to be innocuous for the general population. In this study, we have employed polymerase chain reaction and DNA sequencin...

journal_title：Journal of human genetics

authors： Tate G,Suzuki T,Kishimoto K,Mitsuya T

更新日期：2004-01-01 00:00:00