Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene.

abstract：:Tandem mass screening has recently been started in Japan, but genetic screening has yet to be widely performed in neonates and many unexpected deaths are still being reported. We previously reported two cases of sudden infant death that may have been prevented had newborn screening been performed. In this study, we re...

journal_title：Journal of human genetics

authors： Oshima Y,Yamamoto T,Ishikawa T,Mishima H,Matsusue A,Umehara T,Murase T,Abe Y,Kubo SI,Yoshiura KI,Makita N,Ikematsu K

更新日期：2017-11-01 00:00:00

abstract：:Dyslipidemia and insulin resistance contribute to the endothelial cell dysfunction in hypertensive disorders of pregnancy (HDP) and increase the long-term risk of cardiovascular disease (CVD). The genes linking susceptibility to gestational hypertension (GH) and/or preeclampsia (PE) to the long-term risk of CVD are st...

journal_title：Journal of human genetics

authors： Bernard N,Girouard J,Forest JC,Giguère Y

更新日期：2007-01-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase II (CPT2) are key enzymes for transporting long-chain fatty acids into mitochondria. Deficiencies of these enzymes, which are clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis, cannot be distinguished b...

journal_title：Journal of human genetics

authors： Fukushima T,Kaneoka H,Yasuno T,Sasaguri Y,Tokuyasu T,Tokoro K,Fukao T,Saito T

更新日期：2013-12-01 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：:Connective tissue growth factor (CTGF) has been implicated in the pathogenesis of diabetic nephropathy; however, to date there have been no reports of genomic analysis on this gene. The CTGF gene was comprehensively screened using WAVE (dHPLC) technology and direct capillary sequencing. Single nucleotide polymorphisms...

journal_title：Journal of human genetics

authors： McKnight AJ,Savage DA,Patterson CC,Brady HR,Maxwell AP

更新日期：2006-01-01 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：: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：: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：: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：: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 use of novel sequencing and high-throughput techniques has become widespread, and are now readily available to obtain the comprehensive transcription profile of the human genome. Noncoding RNAs (ncRNAs) are transcripts that have no apparent protein-coding capacity, but they have important roles in human physiology...

journal_title：Journal of human genetics

authors： Kita Y,Yonemori K,Osako Y,Baba K,Mori S,Maemura K,Natsugoe S

更新日期：2017-01-01 00:00:00

abstract：:It is well known that individuals with low, or lack of, antibody production in response to hepatitis B surface antigen (HBsAg) exist in the human population. We have previously reported that HLA class I and class II genes are both involved in antibody production to HBsAg, and that specific alleles of HLA are associate...

journal_title：Journal of human genetics

authors： Wataya M,Sano T,Kamikawaji N,Tana T,Yamamoto K,Sasazuki T

更新日期：2001-01-01 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：: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：: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 prefrontal cortex has been implicated in schizophrenia (SZ) and affective disorders by gene expression studies. Owing to reciprocal connectivity, the thalamic nuclei and their cortical fields act as functional units. Altered thalamic gene expression would be expected to occur in association with cortical dysfuncti...

journal_title：Journal of human genetics

authors： Chu TT,Liu Y,Kemether E

更新日期：2009-11-01 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：:Although large deletions in the dystrophin gene have been identified in more than two-thirds of Duchenne and Becker muscular dystrophy patients, the molecular mechanisms that lead to the generation of these deletions are largely unknown. Here, Alu and LINE-1 (L1) repetitive elements were shown to be present at one or ...

journal_title：Journal of human genetics

authors： Suminaga R,Takeshima Y,Yasuda K,Shiga N,Nakamura H,Matsuo M

更新日期：2000-01-01 00:00:00

abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease with autosomal dominant transmission characterized by the presence of malformations of the big toes and of postnatal progressive heterotopic endochondral osteogenesis. We report the case of 3-year-old girl with dysplasia of the first metatarsal b...

journal_title：Journal of human genetics

authors： Lin GT,Chang HW,Liu CS,Huang PJ,Wang HC,Cheng YM

更新日期：2006-01-01 00:00:00

abstract：:Tissue factor (TF) is important for initiation of coagulation and for the increased thrombin activity observed at sites of inflammation. Thrombin activity is induced by allergen challenge in asthmatic airways and is involved in the pathogenesis of asthma. A -603A --> G polymorphism (rs1361600) in the promoter region o...

journal_title：Journal of human genetics

authors： Isada A,Konno S,Hizawa N,Tamari M,Hirota T,Harada M,Maeda Y,Hattori T,Takahashi A,Nishimura M

更新日期：2010-03-01 00:00:00

abstract：:Genomic imprinting is an epigenetic phenomenon that leads to parent-specific differential expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains, and are regulated by imprinting control regions. As imprinted genes have an important role in growth and development, aberrant expression...

journal_title：Journal of human genetics

authors： Soejima H,Higashimoto K

更新日期：2013-07-01 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：:Adrenomedullin (ADM), a peptide characterized by persistent hypotensive activity, is thought to be involved when the control mechanism of blood pressure is deranged, because its plasma concentration is upregulated in hypertensive patients. The receptor for ADM, a molecular complex consisting of calcitonin-receptor-lik...

journal_title：Journal of human genetics

authors： Nakazawa I,Nakajima T,Harada H,Ishigami T,Umemura S,Emi M

更新日期：2001-01-01 00:00:00

abstract：:As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a candidate gene for Kallmann syndrome, a disease of idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or hyposmia. ...

journal_title：Journal of human genetics

authors： Miura K,Acierno JS Jr,Seminara SB

更新日期：2004-01-01 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：: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：:In Table 2, a column heading was inadvertently omitted. Corrected table is as follows. ...

journal_title：Journal of human genetics

authors： Paradisi I,Hernández A,Arias S

更新日期：2008-04-01 00:00:00

abstract：:Lung epithelium plays a central role in modulation of the lung inflammatory response, and lung repair and airway epithelial cells are targets in asthma and viral infection. Activated T lymphocytes release cytokines such as interferon-gamma (IFN-gamma) that induce apoptosis, or programmed cell death, of damaged epithel...

journal_title：Journal of human genetics

authors： Hirota T,Obara K,Matsuda A,Akahoshi M,Nakashima K,Hasegawa K,Takahashi N,Shimizu M,Sekiguchi H,Kokubo M,Doi S,Fujiwara H,Miyatake A,Fujita K,Enomoto T,Kishi F,Suzuki Y,Saito H,Nakamura Y,Shirakawa T,Tamari M

更新日期：2004-01-01 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：:Our mtDNA and Y chromosome studies lead to the conclusion that the Andamanese "Negrito" mtDNA lineages have survived in the Andaman Islands in complete genetic isolation from other South and Southeast Asian populations since the initial settlement of the region by the out-of-Africa migration. In order to obtain a robu...

journal_title：Journal of human genetics

authors： Thangaraj K,Chaubey G,Reddy AG,Singh VK,Singh L

更新日期：2006-01-01 00:00:00