A novel expression system for genomic DNA loci using a human artificial chromosome vector with transformation-associated recombination cloning.

abstract：:We analyzed the mitochondrial DNA extracted from 14 human skeletal remains from the Doigahama site in Japan to clarify the genetic structure of the Doigahama Yayoi population and the relationship between burial style and kinship among individuals. The sequence types obtained in this study were compared with those of t...

journal_title：Journal of human genetics

authors： Igawa K,Manabe Y,Oyamada J,Kitagawa Y,Kato K,Ikematsu K,Nakasono I,Matsushita T,Rokutanda A

更新日期：2009-10-01 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：:The identification of anticipation in schizophrenia is a recent focus in the genetic epidemiology of schizophrenia, although it involves some controversial methodological issues. We explored the evidence of anticipation among 44 Japanese two-generation pairs with schizophrenia found by reviewing nine years of admissio...

journal_title：Journal of human genetics

authors： Imamura A,Honda S,Nakane Y,Okazaki Y

更新日期：1998-01-01 00:00:00

abstract：:PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of he...

journal_title：Journal of human genetics

authors： Koh K,Ichinose Y,Ishiura H,Nan H,Mitsui J,Takahashi J,Sato W,Itoh Y,Hoshino K,Tsuji S,Takiyama Y,Japan Spastic Paraplegia Research Consotium.

更新日期：2019-01-01 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

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：:Takayasu arteritis (TAK) is an immune-mediated vasculitis affecting large arteries first reported in 1908 from Japan. Case reports of familial onset of TAK from Japan and other countries indicated genetic contribution to TAK onset beyond ethnicity. Genetic studies of TAK have been performed mainly addressing the human...

journal_title：Journal of human genetics

authors： Terao C

更新日期：2016-01-01 00:00:00

abstract：:Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chrom...

journal_title：Journal of human genetics

authors： Wang H,Wang X,He C,Li H,Qing J,Grati M,Hu Z,Li J,Hu Y,Xia K,Mei L,Wang X,Yu J,Chen H,Jiang L,Liu Y,Men M,Zhang H,Guan L,Xiao J,Zhang J,Liu X,Feng Y

更新日期：2015-03-01 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：:Disrupted-in-schizophrenia 1 (DISC1) was reported to be associated with schizophrenia. In a previous study, we found significant association with schizophrenia patients with deficient sustained attention assessed by continuous performance test (CPT). This study aimed to identify risk polymorphisms in this specific neu...

journal_title：Journal of human genetics

authors： Liu CM,Liu YL,Hwu HG,Fann CS,Yang UC,Hsu PC,Chang CC,Chen WJ,Hwang TJ,Hsieh MH,Liu CC,Chien YL,Lin YT,Tsuang MT

更新日期：2019-07-01 00:00:00

abstract：:Increased pulse pressure (PP) and decreased mean arterial pressure (MAP) are strong prognostic predictors of adverse cardiovascular events. Recently, the International Consortium for Blood Pressure Genome-Wide Association Studies (ICBP-GWAS) reported eight loci that influenced PP and MAP. The ICBP-GWAS examined 51 coh...

journal_title：Journal of human genetics

authors： Hong KW,Min H,Heo BM,Joo SE,Kim SS,Kim Y

更新日期：2012-06-01 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：: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：:We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes...

journal_title：Journal of human genetics

authors： Martín-Hernández E,Rodríguez-García ME,Chen CA,Cotrina-Vinagre FJ,Carnicero-Rodríguez P,Bellusci M,Schaaf CP,Martínez-Azorín F

更新日期：2018-04-01 00:00:00

abstract：:The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of lysine 4 and lysine 36 in histone H3 (H3K4 and H3K36) in the central nervous system are highly conserved among species. Numerous complications of body malformations and ...

journal_title：Journal of human genetics

authors： Yokotsuka-Ishida S,Nakamura M,Tomiyasu Y,Nagai M,Kato Y,Tomiyasu A,Umehara H,Hayashi T,Sasaki N,Ueno SI,Sano A

更新日期：2021-01-06 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：:This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibi...

journal_title：Journal of human genetics

authors： Scrimshaw BJ,Faed JM,Tate WP,Yun K

更新日期：1999-01-01 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 roles of the erythropoietin (Epo) 3' enhancer in the activation of gene expression in response to hypoxia were investigated. The enhancer contains hypoxia-inducible enhancer binding site 1 (HIF-1 element) and two direct repeats of hexanucleotide consensus nuclear receptor half site (HNF-4 element). HIF-1, which is...

journal_title：Journal of human genetics

authors： Zhang W,Tsuchiya T,Yasukochi Y

更新日期：1999-01-01 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：: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：:Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrr...

journal_title：Journal of human genetics

authors： Guo L,Girisha KM,Iida A,Hebbar M,Shukla A,Shah H,Nishimura G,Matsumoto N,Nismath S,Miyake N,Ikegawa S

更新日期：2017-03-01 00:00:00

abstract：:When compared with single gene functional analysis, gene set analysis (GSA) can extract more information from gene expression profiles. Currently, several gene set methods have been proposed, but most of the methods cannot detect gene sets with a large number of minor-effect genes. Here, we propose a novel distance-ba...

journal_title：Journal of human genetics

authors： Li J,Wang L,Xu L,Zhang R,Huang M,Wang K,Xu J,Lv H,Shang Z,Zhang M,Jiang Y,Guo M,Li X

更新日期：2012-10-01 00:00:00

abstract：:We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HEC...

journal_title：Journal of human genetics

authors： Kato K,Miya F,Hori I,Ieda D,Ohashi K,Negishi Y,Hattori A,Okamoto N,Kato M,Tsunoda T,Yamasaki M,Kanemura Y,Kosaki K,Saitoh S

更新日期：2017-09-01 00:00:00

abstract：:Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...

journal_title：Journal of human genetics

authors： Yamaguchi K,Watanabe C,Kawaguchi A,Sato T,Naka I,Shindo M,Moromizato K,Aoki K,Ishida H,Kimura R

更新日期：2012-11-26 00:00:00

abstract：:Childhood-onset schizophrenia (COS) is a rare form of schizophrenia with an onset before 13 years of age. There is rising evidence that genetic factors play a major role in COS etiology, yet, only a few single gene mutations have been discovered. Here we present a diagnostic whole-exome sequencing (WES) in an Israeli ...

journal_title：Journal of human genetics

authors： Alkelai A,Shohat S,Greenbaum L,Schechter T,Draiman B,Chitrit-Raveh E,Rienstein S,Dagaonkar N,Hughes D,Aggarwal VS,Heinzen EL,Shifman S,Goldstein DB,Kohn Y

更新日期：2021-03-01 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：:WNK lysine-deficient protein kinase 1 (WNK1) is a member of the WNK family of serine/threonine kinases with no lysine (K), and these kinases have been implicated as important modulators of salt homeostasis in the kidney. It is well known that high dietary sodium and low dietary potassium have been implicated in the et...

journal_title：Journal of human genetics

authors： Osada Y,Miyauchi R,Goda T,Kasezawa N,Horiike H,Iida M,Sasaki S,Yamakawa-Kobayashi K

更新日期：2009-08-01 00:00:00

abstract：:Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with d...

journal_title：Journal of human genetics

authors： Suspitsin EN,Yanus GA,Dorofeeva MY,Ledashcheva TA,Nikitina NV,Buyanova GV,Saifullina EV,Sokolenko AP,Imyanitov EN

更新日期：2018-05-01 00:00:00

abstract：:Familial partial lipodystrophy (FPLD) has been shown to be due to mutations in the LMNA gene encoding nuclear lamins A and C, indicating that defective structure of the nuclear envelope can produce this unique phenotype. Some patients with inherited partial lipodystrophy have normal LMNA coding, promoter, and 3'-untra...

journal_title：Journal of human genetics

authors： Hegele RA,Yuen J,Cao H

更新日期：2001-01-01 00:00:00