Tissue specificity of methylation and expression of human genes coding for neuropeptides and their receptors, and of a human endogenous retrovirus K family.

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：: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：:Although the Japanese population has a rather low genetic diversity, we recently confirmed the presence of two main clusters (the Hondo and Ryukyu clusters) through principal component analysis of genome-wide single-nucleotide polymorphism (SNP) genotypes. Understanding the genetic differences between the two main clu...

journal_title：Journal of human genetics

authors： Yamaguchi-Kabata Y,Tsunoda T,Kumasaka N,Takahashi A,Hosono N,Kubo M,Nakamura Y,Kamatani N

更新日期：2012-05-01 00:00:00

abstract：:Modern day Iran is strategically located in the tri-continental corridor uniting Africa, Europe and Asia. Several ethnic groups belonging to distinct religions, speaking different languages and claiming divergent ancestries inhabit the region, generating a potentially diverse genetic reservoir. In addition, past pre-h...

journal_title：Journal of human genetics

authors： Terreros MC,Rowold DJ,Mirabal S,Herrera RJ

更新日期：2011-03-01 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：:Genetic testing for BRCA1/2 mutations has become the standard clinical practice. Recent findings suggest the clinical significance of multigene panel testing of BRCA1/2 and other cancer-related genes. However, the clinical features of patients with breast cancer with germline mutations identified using multigene panel...

journal_title：Journal of human genetics

authors： Hata C,Nakaoka H,Xiang Y,Wang D,Yang A,Liu D,Liu F,Zou Q,Wei L,Zheng K,Inoue I,You H

更新日期：2020-07-01 00:00:00

abstract：:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mu...

journal_title：Journal of human genetics

authors： Wang J,Shang J,Wu Y,Gu Q,Xiong H,Ding C,Wang L,Gao Z,Wu X,Jiang Y

更新日期：2011-02-01 00:00:00

abstract：:Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic C...

journal_title：Journal of human genetics

authors： Lin M,Zhao S,Liu G,Huang Y,Yu C,Zhao Y,Wang L,Zhang Y,Yan Z,Wang S,Liu S,Liu J,Ye Y,Chen Y,Yang X,Tong B,Wang Z,Yang X,Niu Y,Li X,Wang Y,Su J,Yuan J,Zhao H,Zhang S,Qiu G,Deciphering Disorders Involving

更新日期：2020-03-01 00:00:00

abstract：:Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the phenotype and severity of the disease vary in patients even if they ...

journal_title：Journal of human genetics

authors： Miyake N,Heydari S,Garshasbi M,Saitoh S,Nasiri J,Hamanaka K,Takata A,Matsumoto N,Beheshti FH,Chaleshtori ARS

更新日期：2020-10-09 00:00:00

abstract：:The Mexican-Mestizo population arose following European contact with the Americas due to the admixture of principally Spaniards, Native Americans, and Africans around 500 years ago. Because the paternal lineage distribution of the Mexican population has been poorly investigated, this study inferred the haplogroups of ...

journal_title：Journal of human genetics

authors： Aguilar-Velázquez JA,Rangel-Villalobos H

更新日期：2021-03-01 00:00:00

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：:Interleukin (IL11) is a member of the interleukin 6 (IL6)-related cytokine subfamily, which stimulates T cell-dependent development of immunoglobulin-producing B cells. IL11 is also an important paracrine regulator of bone metabolism that induces formation of osteoclasts. In the work reported here, we sequenced the en...

journal_title：Journal of human genetics

authors： Shinohara Y,Ezura Y,Iwasaki H,Nakazawa I,Ishida R,Kodaira M,Kajita M,Shiba T,Emi M

更新日期：2001-01-01 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：:Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful appr...

journal_title：Journal of human genetics

authors： Villamil-Ramírez H,León-Mimila P,Macias-Kauffer LR,Canizalez-Román A,Villalobos-Comparán M,León-Sicairos N,Vega-Badillo J,Sánchez-Muñoz F,López-Contreras B,Morán-Ramos S,Villarreal-Molina T,Zurita LC,Campos-Pérez F,Huertas-Vazq

更新日期：2017-03-01 00:00:00

abstract：:Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...

journal_title：Journal of human genetics

authors： Alex L,Chahil JK,Lye SH,Bagali P,Ler LW

更新日期：2012-06-01 00:00:00

abstract：:Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations. Here, we aimed to evaluate the impacts of these novel loci on type 2 diabetes risk in a population-...

journal_title：Journal of human genetics

authors： Zhou DZ,Liu Y,Zhang D,Liu SM,Yu L,Yang YF,Zhao T,Chen Z,Kan MY,Zhang ZF,Feng GY,Xu H,He L

更新日期：2010-12-01 00:00:00

abstract：:We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2...

journal_title：Journal of human genetics

authors： Abe A,Nakamura K,Kato M,Numakura C,Honma T,Seiwa C,Shirahata E,Itoh A,Kishikawa Y,Hayasaka K

更新日期：2010-11-01 00:00:00

abstract：:Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which t...

journal_title：Journal of human genetics

authors： Jang MA,Kim SY,Jeong BH,Park HY,Jeon K,Kim JW,Ki CS,Koh WJ

更新日期：2013-05-01 00:00:00

abstract：:The name Fon-Jou Hsieh was inadvertently omitted from the list of authors. The name should be added as the third author of the article. ...

journal_title：Journal of human genetics

authors： Lai LP,Su YN,Hsieh FJ,Chiang FT,Juang JM,Liu YB,Ho YL,Chen WJ,Yeh SJ,Wang CC,Ko YL,Wu TJ,Ueng KC,Lei MH,Tsao HM,Chen SA,Lin TK,Wu MH,Lo HM,Huang SKS,Lin JL

更新日期：2006-03-01 00:00:00

abstract：:Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with overlapping clinical presentation. Recently, a single nucleotide substitution in the 5'-untranslated region (UTR) of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 has been shown to be associate...

journal_title：Journal of human genetics

authors： Wieczorek S,Arning L,Alheite I,Epplen JT

更新日期：2006-01-01 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：:During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...

journal_title：Journal of human genetics

authors： Mitsuhashi S,Matsumoto N

更新日期：2020-01-01 00:00:00

abstract：:Defects in the mitochondrial translation apparatus can impair energy production in affected tissues and organs. Most components of this apparatus are encoded by nuclear genes, including GFM2, which encodes a mitochondrial ribosome recycling factor. A few patients with mutations in some of these genes have been reporte...

journal_title：Journal of human genetics

authors： Fukumura S,Ohba C,Watanabe T,Minagawa K,Shimura M,Murayama K,Ohtake A,Saitsu H,Matsumoto N,Tsutsumi H

更新日期：2015-09-01 00:00:00

abstract：:Molecular diagnosis of genetic bone dysplasia is challenging for non-expert. A targeted next-generation sequencing technology was applied to identify the underlying molecular mechanism of bone dysplasia and evaluate the contribution of these genes to patients with bone dysplasia encountered in pediatric endocrinology....

journal_title：Journal of human genetics

authors： Zhang H,Yang R,Wang Y,Ye J,Han L,Qiu W,Gu X

更新日期：2015-12-01 00:00:00

abstract：:Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. Individuals bearing the complete form of the disease (CAIS) present a female phenotype and a lack of pubic and axillary hair. In the present study, four 46,XY patients...

journal_title：Journal of human genetics

authors： Vilchis F,Ramos L,Kofman-Alfaro S,Zenteno JC,Méndez JP,Chávez B

更新日期：2003-01-01 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：: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：:Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investi...

journal_title：Journal of human genetics

authors： Johnson MP,Griffiths LR

更新日期：2005-01-01 00:00:00

abstract：:The predominant risk factor of metabolic syndrome is intra-abdominal fat accumulation, which is determined by waist circumference and waist-hip ratio measurements and visceral fat area (VFA) that is measured by computed tomography (CT). There is evidence that waist circumference and waist-hip ratio in the Caucasian po...

journal_title：Journal of human genetics

authors： Hotta K,Nakamura M,Nakamura T,Matsuo T,Nakata Y,Kamohara S,Miyatake N,Kotani K,Komatsu R,Itoh N,Mineo I,Wada J,Yoneda M,Nakajima A,Funahashi T,Miyazaki S,Tokunaga K,Kawamoto M,Masuzaki H,Ueno T,Hamaguchi K,Tanak

更新日期：2010-11-01 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