Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

abstract：:A couple was referred for exploration of repetitive abortions. The man was found to be a carrier of a balanced reciprocal translocation t(9;10)(q11;p11.1). The meiotic segregation of chromosomes 9 and 10 was analysed in 5,157 spermatozoa from this translocation carrier and in 15,255 spermatozoa from three control dono...

journal_title：Journal of human genetics

authors： Rives N,Jarnot M,Mousset-Siméon N,Joly G,Macé B

更新日期：2003-01-01 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：: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：:A Polish family was identified in which multifocal clear cell renal carcinoma segregated with a balanced constitutional chromosome translocation, t(2:3)(q33;q21), similar to the renal cell cancer-associated t(2;3)(q35;q21) reported in a Dutch family. Bacterial artificial chromosome (BAC) contigs encompassing the 2q an...

journal_title：Journal of human genetics

authors： Podolski J,Byrski T,Zajaczek S,Druck T,Zimonjic DB,Popescu NC,Kata G,Borowka A,Gronwald J,Lubinski J,Huebner K

更新日期：2001-01-01 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：:Deletion of exons 45-55 (del45-55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good candidate for the goal of a multiple exon-skipping strategy. We have precisely characteri...

journal_title：Journal of human genetics

authors： Miyazaki D,Yoshida K,Fukushima K,Nakamura A,Suzuki K,Sato T,Takeda S,Ikeda S

更新日期：2009-02-01 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：:Variation in the human monoamine oxidase A (MAO-A) gene can influence neurotransmittor levels and is thought to have a role in many behavioral traits. The genetic architecture of MAO-A is known to vary across different geographic subgroups. Previous studies have reported evidence for positive selection within the MAO-...

journal_title：Journal of human genetics

authors： Eccles DA,Macartney-Coxson D,Chambers GK,Lea RA

更新日期：2012-05-01 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：:Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with ...

journal_title：Journal of human genetics

authors： Guo L,Elcioglu NH,Mizumoto S,Wang Z,Noyan B,Albayrak HM,Yamada S,Matsumoto N,Miyake N,Nishimura G,Ikegawa S

更新日期：2017-08-01 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：: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：:GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we ...

journal_title：Journal of human genetics

authors： Luo X,Zou Y,Tan B,Zhang Y,Guo J,Zeng L,Zhang R,Tan H,Wei X,Hu Y,Zheng Y,Liang D,Wu L

更新日期：2017-04-01 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：: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

abstract：:MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we rep...

journal_title：Journal of human genetics

authors： Fujita A,Isidor B,Piloquet H,Corre P,Okamoto N,Nakashima M,Tsurusaki Y,Saitsu H,Miyake N,Matsumoto N

更新日期：2016-09-01 00:00:00

abstract：UNLABELLED:Gastrointestinal (GI) cancer is responsible for the majority of deaths among all types of cancer. Lifestyle factors may not only be the main risk factor for GI cancer but reactive oxygen species (ROS) may also be involved. The single-nucleotide polymorphisms (SNPs) 609C>T (rs1800566) and 465C>T (rs1131341) i...

journal_title：Journal of human genetics

authors： Freriksen JJ,Salomon J,Roelofs HM,Te Morsche RH,van der Stappen JW,Dura P,Witteman BJ,Lacko M,Peters WH

更新日期：2014-07-01 00:00:00

abstract：:IgE-mediated allergy is a common chronic disorder resulting from interactions between genetic and environmental factors. The gene encoding CD14 is a positional candidate gene for allergic diseases as it is localised on chromosome 5q31.1, a region linked to asthma and bronchial hyperresponsiveness. We investigated the ...

journal_title：Journal of human genetics

authors： Bučková D,Hollá LI,Znojil V,Vašků A

更新日期：2006-01-01 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：: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：:Diffuse panbronchiolitis (DPB) is a distinctive chronic inflammatory lung disease predominantly found in Asian populations. Although its etiology is unknown, DPB is considered to be a multifactorial disease of whose susceptibility is determined by genetic predisposition unique to Asians. We and others have previously ...

journal_title：Journal of human genetics

authors： Emi M,Keicho N,Tokunaga K,Katsumata H,Souma S,Nakata K,Taguchi Y,Ohishi N,Azuma A,Kudoh S

更新日期：1999-01-01 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：:Mutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p...

journal_title：Journal of human genetics

authors： Kim IJ,Kang HC,Shin Y,Park HW,Jang SG,Han SY,Lim SK,Lee MR,Chang HJ,Ku JL,Yang HK,Park JG

更新日期：2004-01-01 00:00:00

abstract：:A sample of central Argentina (Córdoba) was genotyped for the first hypervariable region (HVS-I) plus a set of coding region mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) (N = 102) and compared with a data set of Y-chromosome short tandem repeats (Y-STRs; N = 100) previously genotyped in the same in...

journal_title：Journal of human genetics

authors： Salas A,Jaime JC,Álvarez-Iglesias V,Carracedo Á

更新日期：2008-01-01 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：: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：: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：:Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its severity and prevalence in the general public, the gene causing IA has not yet been identified due mainly to the lack o...

journal_title：Journal of human genetics

authors： Kim CJ,Park SS,Lee HS,Chung HJ,Choi W,Chung JH,Kim JM,Hong ST

更新日期：2011-06-01 00:00:00

abstract：:Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast cancer cases, and therefore, BRCA1 and BRCA2 genetic testing has become increasingly common in clinical practice. However, variants of uncertain significance (VUS) have been detected in 16.3% of J...

journal_title：Journal of human genetics

authors： Kawaku S,Sato R,Song H,Bando Y,Arinami T,Noguchi E

更新日期：2013-09-01 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