Isolation and radiation hybrid mapping of a highly polymorphic CA repeat sequence at the human nuclear factor kappa-beta subunit 1 (NFKB1) locus.

abstract：:Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients fr...

journal_title：Journal of human genetics

authors： Kim YM,Seo GH,Jung E,Jang JH,Kim SZ,Lee BH

更新日期：2018-03-01 00:00:00

abstract：:X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SL...

journal_title：Journal of human genetics

authors： Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

更新日期：2018-06-01 00:00:00

abstract：:Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotranspos...

journal_title：Journal of human genetics

authors： Miki Y

更新日期：1998-01-01 00:00:00

abstract：:Since mitochondria are energy-generating micro-organisms, most of the disorders in patients with mitochondrial diseases (mt-disease) are considered secondary to defects in ATP synthesis, although some other factors such as reactive oxygen species may be involved. A simultaneous oral administration of febuxostat and in...

journal_title：Journal of human genetics

authors： Kamatani N,Kushiyama A,Toyo-Oka L,Toyo-Oka T

更新日期：2019-04-01 00:00:00

abstract：:A-kinase anchoring protein 95 (AKAP95) is a nuclear protein which binds to the regulatory subunit (RII) of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA) and to DNA. A novel nuclear human gene which shares sequence homology with the human AKAP95 gene was identified by a nuclear transportation tra...

journal_title：Journal of human genetics

authors： Seki N,Ueki N,Yano K,Saito T,Masuho Y,Muramatsu M

更新日期：2000-01-01 00:00:00

abstract：:Mucopolysaccharidosis IVA (MPS IVA) is a degenerative systemic skeletal dysplasia, in which children exhibit marked short stature and become physically handicapped. This study evaluated the growth patterns of patients treated with enzyme replacement therapy (ERT), compared with those of untreated patients. Cross-secti...

journal_title：Journal of human genetics

authors： Doherty C,Stapleton M,Piechnik M,Mason RW,Mackenzie WG,Yamaguchi S,Kobayashi H,Suzuki Y,Tomatsu S

更新日期：2019-07-01 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

abstract：:Genome-wide single nucleotide polymorphism (SNP) association studies recently identified four SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) on chromosome 9p21 that were associated with coronary artery disease (CAD) and myocardial infarction (MI) in Caucasian populations from northern Europe and North America...

journal_title：Journal of human genetics

authors： Shen GQ,Rao S,Martinelli N,Li L,Olivieri O,Corrocher R,Abdullah KG,Hazen SL,Smith J,Barnard J,Plow EF,Girelli D,Wang QK

更新日期：2008-01-01 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：:Recently, haplotype-based association studies have become popular for detecting disease-related or drug-response-associated genes. In these studies, it has been gradually recognized that a haplotype block structure is important. A rational and automatic method for identifying the haplotype block structure from SNP dat...

journal_title：Journal of human genetics

authors： Fujisawa H,Isomura M,Eguchi S,Ushijima M,Miyata S,Miki Y,Matsuura M

更新日期：2007-01-01 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：:Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic heari...

journal_title：Journal of human genetics

authors： Song MJ,Lee ST,Lee MK,Ji Y,Kim JW,Ki CS

更新日期：2012-02-01 00:00:00

abstract：:Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To...

journal_title：Journal of human genetics

authors： Keshavarz P,Inoue H,Sakamoto Y,Kunika K,Tanahashi T,Nakamura N,Yoshikawa T,Yasui N,Shiota H,Itakura M

更新日期：2006-01-01 00:00:00

abstract：:Geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as short stature, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by ...

journal_title：Journal of human genetics

authors： Wang Y,Zhang H,Ye J,Han L,Gu X

更新日期：2014-10-01 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：: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：:The CSR (cellular stress response) gene encodes a protein that structurally resembles the macrophage scavenger receptor, and is a potent regulator of intracellular reactive oxygen intermediates. We found a polymorphic dinucleotide repeat in the first intron of the CSR gene. This polymorphism will be a useful genetic m...

journal_title：Journal of human genetics

authors： Han HJ,Nakamura Y

更新日期：1998-01-01 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：: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：:Genome-wide association studies and integrative genomics approaches have demonstrated significant associations between chronic obstructive pulmonary disease (COPD) and single-nucleotide polymorphisms (SNPs) in the chromosome 15q25 region that includes iron-responsive element binding protein 2 gene (IREB2) and CHRNA3/5...

journal_title：Journal of human genetics

authors： Zhou H,Yang J,Li D,Xiao J,Wang B,Wang L,Ma C,Xu S,Ou X,Feng Y

更新日期：2012-11-26 00:00:00

abstract：:The classical transmission disequilibrium test (TDT) based on a trio design uses information only on the allele transmitted by a heterozygous parent at a marker locus as homozygous parents are non-informative about linkage. However, the phenotype of an offspring depends on the alleles transmitted by both parents, irre...

journal_title：Journal of human genetics

authors： Kulkarni H,Ghosh S

更新日期：2017-06-01 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：: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：:Natural tooth loss represents a major medical issue within the elderly population, since it impairs masticatory function critical for oral intake of essential nutrition. Contribution of genetic factors has been implicated in the determination of natural tooth loss; degree of reduction in number of natural teeth remain...

journal_title：Journal of human genetics

authors： Hirano H,Ezura Y,Ishiyama N,Yamaguchi M,Nasu I,Yoshida H,Suzuki T,Hosoi T,Emi M

更新日期：2003-01-01 00:00:00

abstract：:Premature ovarian failure (POF) is a disorder characterized by amenorrhea and elevated serum gonadotropins before 40 years of age. As X chromosomal abnormalities are often recognized in POF patients, defects of X-linked gene may contribute to POF. Four cases of POF with t(X;autosome) were genetically analyzed. All the...

journal_title：Journal of human genetics

authors： Nishimura-Tadaki A,Wada T,Bano G,Gough K,Warner J,Kosho T,Ando N,Hamanoue H,Sakakibara H,Nishimura G,Tsurusaki Y,Doi H,Miyake N,Wakui K,Saitsu H,Fukushima Y,Hirahara F,Matsumoto N

更新日期：2011-02-01 00:00:00

abstract：:TDP2 encodes a 5'-tyrosyl DNA phosphodiesterase required for the efficient repair of double-strand breaks (DSBs) induced by the abortive activity of DNA topoisomerase II (TOP2). To date, only three homozygous variants in TDP2 have been reported in six patients from four unrelated pedigrees with spinocerebellar ataxia ...

journal_title：Journal of human genetics

authors： Errichiello E,Zagnoli-Vieira G,Rizzi R,Garavelli L,Caldecott KW,Zuffardi O

更新日期：2020-12-01 00:00:00

abstract：:We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups. ...

journal_title：Journal of human genetics

authors： Cao H,Williams C,Carter M,Hegele RA

更新日期：2004-01-01 00:00:00

abstract：:DNase II is an important enzyme for DNA fragmentation and degradation during programmed cell death and, consequently, a potential candidate gene for genetic study of systemic lupus erythematosus (SLE). Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE. A total o...

journal_title：Journal of human genetics

authors： Shin HD,Park BL,Cheong HS,Lee HS,Jun JB,Bae SC

更新日期：2005-01-01 00:00:00

abstract：:alpha-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions. and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular dise...

journal_title：Journal of human genetics

authors： Tachikawa H,Tsuda M,Onoe K,Ueno M,Takagi S,Shinohara Y

更新日期：2001-01-01 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