In vivo genome editing via the HITI method as a tool for gene therapy.

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：:Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without f...

journal_title：Journal of human genetics

authors： Tosetto E,Graziotto R,Artifoni L,Nachtigal J,Cascone C,Conz P,Piva M,Dell'Aquila R,De Paoli Vitali E,Citron L,Nalesso F,Antonello A,Vertolli U,Zagatti R,Lupo A,D'Angelo A,Anglani F,Gambaro G

更新日期：2006-01-01 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：: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：: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

abstract：:The use of mixed models to determine narrow-sense heritability and related quantities such as SNP heritability has received much recent attention. Less attention has been paid to the inherent variability in these estimates. One approach for quantifying variability in estimates of heritability is a frequentist approach...

journal_title：Journal of human genetics

authors： Furlotte NA,Heckerman D,Lippert C

更新日期：2014-05-01 00:00:00

abstract：:The transcriptional factor nuclear factor kappa-beta (NFKB) consists of a multicomponent protein complex that plays a major role in the regulation of many viral and cellular genes. The NFKB complex has two alternative DNA binding subunits. We isolated a polymorphic dinucleotide (CA) repeat sequence from a genomic clon...

journal_title：Journal of human genetics

authors： Ota N,Nakajima T,Shirai Y,Emi M

更新日期：1999-01-01 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：: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：: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：: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：:Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith-Wi...

journal_title：Journal of human genetics

authors： Lee BH,Kim GH,Oh TJ,Kim JH,Lee JJ,Choi SH,Lee JY,Kim JM,Choi IH,Kim YM,Choi JH,Yoo HW

更新日期：2013-09-01 00:00:00

abstract：:Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease ha...

journal_title：Journal of human genetics

authors： Bilal Shamsi M,Saleh M,Almuntashri M,Alharby E,Samman M,Peake RWA,Al-Fadhli FM,Alasmari A,Faqeih EA,Almontashiri NAM

更新日期：2021-01-27 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：: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：: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：:The genomes of outbred populations were first shown in 2006 to contain regions of homozygosity (ROHs) of several megabases. Further studies have also investigated the characteristics of ROHs in healthy individuals in various populations but there are no studies on Singapore populations to date. This study aims to iden...

journal_title：Journal of human genetics

authors： Teo SM,Ku CS,Salim A,Naidoo N,Chia KS,Pawitan Y

更新日期：2012-02-01 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：: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：: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：:Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leverage...

journal_title：Journal of human genetics

authors： Ghanbari M,Peters MJ,de Vries PS,Boer CG,van Rooij JGJ,Lee YC,Kumar V,Uitterlinden AG,Ikram MA,Wijmenga C,Ordovas JM,Smith CE,van Meurs JBJ,Erkeland SJ,Franco OH,Dehghan A

更新日期：2018-04-01 00:00:00

abstract：:Chromosome 5, especially the 5q31-33 region, may contain one or more loci to control total serum IgE as well as asthma and bronchial hyperresponsiveness. To investigate the regions related with IgE level in chromosome 5, we performed a case-control association study on 105 high-IgE-level and 85 normal-IgE-level asthma...

journal_title：Journal of human genetics

authors： Wang JY,Wang LM,Lin CG,Chang AC,Wu LS

更新日期：2005-01-01 00:00:00

abstract：:We found a five-basepair insertion/deletion polymorphism in intron 3 of TNNT2, one of the genes responsible for hypertrophic cardiomyopathy. These five bases may be part of an intronic polypyrimidine tract sequence that may affect splicing. The purpose of the study was to examine the association of the polymorphism wi...

journal_title：Journal of human genetics

authors： Komamura K,Iwai N,Kokame K,Yasumura Y,Kim J,Yamagishi M,Morisaki T,Kimura A,Tomoike H,Kitakaze M,Miyatake K

更新日期：2004-01-01 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：: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：:Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpretation of the muscle histology, where typical pathognomonic findings ar...

journal_title：Journal of human genetics

authors： Oliveira J,Gonçalves A,Taipa R,Melo-Pires M,Oliveira ME,Costa JL,Machado JC,Medeiros E,Coelho T,Santos M,Santos R,Sousa M

更新日期：2016-06-01 00:00:00

abstract：:As the methodology of genetic detection has developed rapidly in recent years, through techniques such as genome-wide association studies (GWAS) and the secondary generation of sequencing, we are able to view the genomic landscape more clearly. It is well known that genes have a vital role in the pathogenesis of immun...

journal_title：Journal of human genetics

authors： Wu X,Chen H,Xu H

更新日期：2015-11-01 00:00:00

abstract：:A recent association study suggested that the His113 variant of microsomal epoxide hydrolase (mEPHX) may confer a risk for development of emphysema, presumably by increasing susceptibility to smoking injury. Before considering a possible role of this enzyme in pulmonary disease, we attempted to characterize the geneti...

journal_title：Journal of human genetics

authors： Keicho N,Emi M,Kajita M,Matsushita I,Nakata K,Azuma A,Ohishi N,Kudoh S

更新日期：2001-01-01 00:00:00

abstract：:The current understanding of the genetic architecture of lipids has largely come from genome-wide association studies (GWAS). To date, few GWAS have examined the genetic architecture of lipids in Polynesians, and none have in Samoans, whose unique population history, including many population bottlenecks, may provide ...

journal_title：Journal of human genetics

authors： Carlson JC,Weeks DE,Hawley NL,Sun G,Cheng H,Naseri T,Reupena MS,Tuitele J,Deka R,McGarvey ST,Minster RL

更新日期：2021-02-01 00:00:00

abstract：:We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...

journal_title：Journal of human genetics

authors： Cao H,Miskie BA,Hegele RA

更新日期：2002-01-01 00:00:00