The NR4A nuclear receptor family in eosinophils.

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：:Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the...

journal_title：Journal of human genetics

authors： Nishiyama T,Notohara M,Sumi S,Takami S,Kishino H

更新日期：2009-12-01 00:00:00

abstract：:Behçet disease (BD) is an immune-mediated disease. The cause of BD remains unknown, but the existence of multiple pathological pathways is suspected, including different genetic factors. Polymorphisms in ERAP1 gene have been associated with an increased risk of BD. However, while current BD-associated ERAP1 variants a...

journal_title：Journal of human genetics

authors： Dimopoulou C,Lundgren JD,Sundal J,Ullum H,Aukrust P,Nielsen FC,Marvig RL

更新日期：2020-03-01 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：: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：:To conduct a long-term birth cohort study that includes genetic analysis, it is crucial to understand the attitudes of participants to genetic analysis and then take appropriate approaches for addressing their ambiguous and negative attitudes. This study aimed to explore participants' attitudes toward genetic analysis...

journal_title：Journal of human genetics

authors： Yamamoto M,Sakurai K,Mori C,Hata A

更新日期：2021-01-25 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：: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：:Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the bes...

journal_title：Journal of human genetics

authors： Saito S,Ohno K,Sakuraba H

更新日期：2011-06-01 00:00:00

abstract：:To elucidate possible physiological functions of human endogenous retroviruses (HERVs) and their role in the pathogenesis of human diseases, we have developed a strategy to identify transcriptionally active HERV genes. By this approach, we have identified and isolated an active HERV-E gene that was mapped to 17q11. Al...

journal_title：Journal of human genetics

authors： Shiroma T,Sugimoto J,Oda T,Jinno Y,Kanaya F

更新日期：2001-01-01 00:00:00

abstract：:The current understanding of the genetic architecture of lipids has largely come from genome-wide association studies (GWAS). To date, few GWAS have examined the genetic architecture of lipids in Polynesians, and none have in Samoans, whose unique population history, including many population bottlenecks, may provide ...

journal_title：Journal of human genetics

authors： Carlson JC,Weeks DE,Hawley NL,Sun G,Cheng H,Naseri T,Reupena MS,Tuitele J,Deka R,McGarvey ST,Minster RL

更新日期：2021-02-01 00:00:00

abstract：:The House of Aisin Gioro is the imperial family of the last dynasty in Chinese history-Qing dynasty (1644-1911). The Aisin Gioro family originated from Jurchen tribes and founded the Manchu people before they conquered China. By investigating the Y chromosomal short tandem repeats (STRs) of seven modern male individua...

journal_title：Journal of human genetics

authors： Yan S,Tachibana H,Wei LH,Yu G,Wen SQ,Wang CC

更新日期：2015-06-01 00:00:00

abstract：:Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel ho...

journal_title：Journal of human genetics

authors： Galada C,Shah H,Shukla A,Girisha KM

更新日期：2017-04-01 00:00:00

abstract：:Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by th...

journal_title：Journal of human genetics

authors： Namba A,Abe S,Shinkawa H,Kimberling WJ,Usami SI

更新日期：2001-01-01 00:00:00

abstract：:We intended to confirm genetically the involvement of the IDDMK1,2-22 gene in the pathogenesis of insulin-dependent diabetes mellitus (IDDM). For this purpose, we isolated a human endogenous retrovirus gene, possibly corresponding to IDDMK1,2-22. The isolated gene showed 99.8% and 99.7% homologies in nucleotide sequen...

journal_title：Journal of human genetics

authors： Hasuike S,Miura K,Miyoshi O,Miyamoto T,Niikawa N,Jinno Y,Ishikawa M

更新日期：1999-01-01 00:00:00

abstract：:Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic diso...

journal_title：Journal of human genetics

authors： Gillentine MA,Lupo PJ,Stankiewicz P,Schaaf CP

更新日期：2018-07-01 00:00:00

abstract：:The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the a...

journal_title：Journal of human genetics

authors： Minamikawa S,Nozu K,Nozu Y,Yamamura T,Taniguchi-Ikeda M,Nakanishi K,Fujimura J,Horinouchi T,Shima Y,Nakanishi K,Hattori M,Kanda K,Tanaka R,Morisada N,Nagano C,Sakakibara N,Nagase H,Morioka I,Kaito H,Iijima K

更新日期：2018-05-01 00:00:00

abstract：:Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with ...

journal_title：Journal of human genetics

authors： Lin SP,Chang JH,de la Cadena MP,Chang TF,Lee-Chen GJ

更新日期：2007-01-01 00:00:00

abstract：:The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was...

journal_title：Journal of human genetics

authors： Amino T,Ishikawa K,Toru S,Ishiguro T,Sato N,Tsunemi T,Murata M,Kobayashi K,Inazawa J,Toda T,Mizusawa H

更新日期：2007-01-01 00:00:00

abstract：:Plasma lipoprotein-associated phospholipase A2 (Lp-PLA2), also known as platelet-activating factor (PAF) acetylhydrolase (PAF-AH), is a member of the serine-dependent class of A2 phospholipases that hydrolyze sn2-ester bonds of fragmented or oxidized phospholipids at sites where atherosclerotic plaques are forming. Mo...

journal_title：Journal of human genetics

authors： Ishihara M,Iwasaki T,Nagano M,Ishii J,Takano M,Kujiraoka T,Tsuji M,Hattori H,Emi M

更新日期：2004-01-01 00:00:00

abstract：:X-linked recessive congenital motor nystagmus was identified in two Chinese families living in the Guangdong province of China. Nystagmus was noticed in early childhood. Only males in the families were affected and all obligate carriers did not have nystagmus. Linkage study was performed using microsatellite markers a...

journal_title：Journal of human genetics

authors： Guo X,Li S,Jia X,Xiao X,Wang P,Zhang Q

更新日期：2006-01-01 00:00:00

abstract：:Leptin, a possible mediator between energy homeostasis, inflammation and cardiovascular disease (CVD), acts via leptin receptors. We investigated association of single-nucleotide polymorphisms (SNPs) and haplotypes of the leptin receptor gene (LEPR) with several CVD risk factors: body mass index, waist circumference (...

journal_title：Journal of human genetics

authors： Tomas Ž,Petranović MZ,Škarić-Jurić T,Barešić A,Salihović MP,Narančić NS

更新日期：2014-11-01 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：: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：:Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy caused by SH3TC2 mutations, characterized by spine deformities and cranial nerve involvement. This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients...

journal_title：Journal of human genetics

authors： Lee AJ,Nam SH,Park JM,Kanwal S,Choi YJ,Lee HJ,Lee KS,Lee JE,Park JS,Choi BO,Chung KW

更新日期：2019-09-01 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：: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：:With congenital central hypoventilation syndrome (CCHS), most patients have a de novo 5-13 polyalanine expansion mutation in PHOX2B. We reported previously that de novo polyalanine expansion mutations were of paternal origin and were derived from unequal sister chromatid exchange during spermatogenesis in six and four...

journal_title：Journal of human genetics

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

更新日期：2010-01-01 00:00:00

abstract：:Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggeste...

journal_title：Journal of human genetics

authors： De Marco P,Calevo MG,Moroni A,Arata L,Merello E,Finnell RH,Zhu H,Andreussi L,Cama A,Capra V

更新日期：2002-01-01 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