Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.

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：: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：:Genetic studies of neuropsychiatric disorders have often produced conflicting results, which might partly result from the involvement of epigenetic modifications. We intended to explore the possible implication of DNA methylation and human endogenous retroviruses (HERVs) in neuropsychiatric disorders. In the present s...

journal_title：Journal of human genetics

authors： Nakamura A,Okazaki Y,Sugimoto J,Oda T,Jinno Y

更新日期：2003-01-01 00:00:00

abstract：:It is well-known that many members of the family of nuclear receptors have been implicated in human diseases, and metabolic disorders in particular. The NR4A nuclear receptor family consists of three members, Nur77, Nurr1, and NOR1. All of these are orphan receptors, and Nur77 and NOR1 exert possible pathological role...

journal_title：Journal of human genetics

authors： Hashida R,Ohkura N,Saito H,Tsujimoto G

更新日期：2007-01-01 00:00:00

abstract：:Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations. Here, we aimed to evaluate the impacts of these novel loci on type 2 diabetes risk in a population-...

journal_title：Journal of human genetics

authors： Zhou DZ,Liu Y,Zhang D,Liu SM,Yu L,Yang YF,Zhao T,Chen Z,Kan MY,Zhang ZF,Feng GY,Xu H,He L

更新日期：2010-12-01 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：:Schizophrenia is a highly complex inheritable disease characterized by numerous genetic susceptibility elements, each contributing a modest increase in risk for the disease. Although numerous linkage or association studies have identified a large set of schizophrenia-associated loci, many are controversial. In additio...

journal_title：Journal of human genetics

authors： Chu TT,Liu Y

更新日期：2010-05-01 00:00:00

abstract：:Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose ba...

journal_title：Journal of human genetics

authors： Matsunoshita N,Nozu K,Yoshikane M,Kawaguchi A,Fujita N,Morisada N,Ishimori S,Yamamura T,Minamikawa S,Horinouchi T,Nakanishi K,Fujimura J,Ninchoji T,Morioka I,Nagase H,Taniguchi-Ikeda M,Kaito H,Iijima K

更新日期：2018-07-01 00:00:00

abstract：:A growing list of membrane-spanning proteins involved in the transport of a large variety of drugs has been recognized and characterized to include peptide and organic anion/cation transporters. Given such an important role of transporter genes in drug disposition process, the role of single-nucleotide polymorphisms (...

journal_title：Journal of human genetics

authors： Cheong HS,Kim HD,Na HS,Kim JO,Kim LH,Kim SH,Bae JS,Chung MW,Shin HD

更新日期：2011-09-01 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：:Alcohol response is a genetically influenced trait, and there is significant variation in the patterns of alcohol consumption between Māori and Caucasians in New Zealand. Previous studies have found that a variant of the alcohol dehydrogenase (ADH) gene (ADH1B*47His) is associated with protection against alcohol depen...

journal_title：Journal of human genetics

authors： Hall DA,Chambers GK,Lea RA

更新日期：2007-01-01 00:00:00

abstract：:Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal transloca...

journal_title：Journal of human genetics

authors： Kamimura J,Wakui K,Kadowaki H,Watanabe Y,Miyake K,Harada N,Sakamoto M,Kinoshita A,Yoshiura KI,Ohta T,Kishino T,Ishikawa M,Kasuga M,Fukushima Y,Niikawa N,Matsumoto N

更新日期：2004-01-01 00:00:00

abstract：:Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which t...

journal_title：Journal of human genetics

authors： Jang MA,Kim SY,Jeong BH,Park HY,Jeon K,Kim JW,Ki CS,Koh WJ

更新日期：2013-05-01 00:00:00

abstract：:MicroRNAs (miRNAs) are endogenous non-coding RNAs that function as negative regulators of gene expression. Alterations in miRNA expression have been shown to affect tumor growth and response to chemotherapy. In this study, we explored the possible role of miRNAs in cisplatin resistance in esophageal squamous cell carc...

journal_title：Journal of human genetics

authors： Imanaka Y,Tsuchiya S,Sato F,Shimada Y,Shimizu K,Tsujimoto G

更新日期：2011-04-01 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：: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：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：:Infantile hypertrophic pyloric stenosis (IHPS) is a multifactorial heritable condition affecting infants in the first 3 months of life. It is characterized by hypertrophy of the pylorus resulting in blockage of the pyloric canal. Patients present with projectile vomiting, weight loss and dehydration. Five susceptibili...

journal_title：Journal of human genetics

authors： Everett KV,Chung EM

更新日期：2013-04-01 00:00:00

abstract：:ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investiga...

journal_title：Journal of human genetics

authors： Thiha K,Mashimo Y,Suzuki H,Hamada H,Hata A,Hara T,Tanaka T,Ito K,Onouchi Y,Japan Kawasaki Disease Genome Consortium.

更新日期：2019-06-01 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：: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：: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：: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：: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：:X-linked recessive congenital motor nystagmus was identified in two Chinese families living in the Guangdong province of China. Nystagmus was noticed in early childhood. Only males in the families were affected and all obligate carriers did not have nystagmus. Linkage study was performed using microsatellite markers a...

journal_title：Journal of human genetics

authors： Guo X,Li S,Jia X,Xiao X,Wang P,Zhang Q

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：: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：:The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GD...

journal_title：Journal of human genetics

authors： Abe A,Numakura C,Saito K,Koide H,Oka N,Honma A,Kishikawa Y,Hayasaka K

更新日期：2009-02-01 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