The pharmacogenomics of valproic acid.

abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed ...

journal_title：Journal of human genetics

authors： Lee HH,Niu DM,Lin RW,Chan P,Lin CY

更新日期：2002-01-01 00:00:00

abstract：:Two novel mutations in the gene encoding T-protein, a component of the glycine cleavage system, were identified in a Japanese family with nonketotic hyperglycinemia. The proband had two affected sibs, and enzymatic analysis of the liver sample from the proband revealed the T-protein deficiency. The first mutation, 183...

journal_title：Journal of human genetics

authors： Kure S,Shinka T,Sakata Y,Osamu N,Takayanagi M,Tada K,Matsubara Y,Narisawa K

更新日期：1998-01-01 00:00:00

abstract：:The Ras-CRK-Rap1 cellular signal-transduction system is regulated by guanine nucleotide exchange factors (GEFs). Transcription of C3G on chromosome 9q34 and a key member of the GEF gene family is activated by the CRK-adaptor protein; the C3G product is a CRK SH3 domain-binding guanine nucleotide-releasing factor. We d...

journal_title：Journal of human genetics

authors： Hirata T,Nagai H,Koizumi K,Okino K,Harada A,Onda M,Nagahata T,Mikami I,Hirai K,Haraguchi S,Jin E,Kawanami O,Shimizu K,Emi M

更新日期：2004-01-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we ...

journal_title：Journal of human genetics

authors： Maeda N,Horie Y,Adachi K,Nanba E,Kawasaki H,Daimon M,Kudo Y,Kondo M

更新日期：2000-01-01 00:00:00

abstract：:Bivariate survival models with discretely distributed frailty based on the major gene concept and applied to the data on related individuals such as twins and sibs can be used to estimate the underlying hazard, the relative risk and the frequency of the longevity allele. To determine the position of the longevity gene...

journal_title：Journal of human genetics

authors： Begun A

更新日期：2013-10-01 00:00:00

abstract：:We intended to confirm genetically the involvement of the IDDMK1,2-22 gene in the pathogenesis of insulin-dependent diabetes mellitus (IDDM). For this purpose, we isolated a human endogenous retrovirus gene, possibly corresponding to IDDMK1,2-22. The isolated gene showed 99.8% and 99.7% homologies in nucleotide sequen...

journal_title：Journal of human genetics

authors： Hasuike S,Miura K,Miyoshi O,Miyamoto T,Niikawa N,Jinno Y,Ishikawa M

更新日期：1999-01-01 00:00:00

abstract：:Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investi...

journal_title：Journal of human genetics

authors： Johnson MP,Griffiths LR

更新日期：2005-01-01 00:00:00

abstract：:Many consortia and international projects have investigated the human genetic variation of a large number of ethno-geographic groups. However, populations with peculiar genetic features, such as the Turkish population, are still absent in publically available datasets. To explore the genetic predisposition to health-r...

journal_title：Journal of human genetics

authors： Karaca S,Cesuroglu T,Karaca M,Erge S,Polimanti R

更新日期：2015-04-01 00:00:00

abstract：:The mechanism of speciation has remained largely unresolved, and hominoid evolutionary history based on chromosome rearrangements has been continuously challenged. The recent availability of the human-derived chromosome 1-specific midisatellite (D1Z2) and chromosome X-specific macrosatellite (DXZ4) DNA sequence probes...

journal_title：Journal of human genetics

authors： Samonte RV,Conte RA,Verma RS

更新日期：1999-01-01 00:00:00

abstract：:Type 1 diabetes mellitus (T1DM) is a disease characterised by the autoimmune destruction of insulin-producing pancreatic beta cells. Vitamin D is a known immune system modulator and its effects are exerted via the vitamin D receptor (VDR). Several VDR gene single nucleotide polymorphisms (SNPs) have been commonly stud...

journal_title：Journal of human genetics

authors： Boraska V,Škrabić V,Zeggini E,Groves CJ,Buljubašić M,Peruzović M,Zemunik T

更新日期：2008-01-01 00:00:00

abstract：:Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits. To isolate the gene responsible for MIP, we performed translocation breakpoint cloning from an MIP patient with t(2;14)(p23.3;q13). We isolated a good candidate gene for MIP that was ...

journal_title：Journal of human genetics

authors： Kondoh S,Sugawara H,Harada N,Matsumoto N,Ohashi H,Sato M,Kantaputra PN,Ogino T,Tomita H,Ohta T,Kishino T,Fukushima Y,Niikawa N,Yoshiura K

更新日期：2002-01-01 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：:Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with ...

journal_title：Journal of human genetics

authors： Lin SP,Chang JH,de la Cadena MP,Chang TF,Lee-Chen GJ

更新日期：2007-01-01 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：:MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...

journal_title：Journal of human genetics

authors： Nakayama K,Yanagisawa Y,Ogawa A,Ishizuka Y,Munkhtulga L,Charupoonphol P,Supannnatas S,Kuartei S,Chimedregzen U,Koda Y,Ishida T,Kagawa Y,Iwamoto S

更新日期：2011-12-01 00:00:00

abstract：:Genetic factors, alone or in interaction with components of the diet, are thought to be involved in the development of the metabolic syndrome. The objective of our study was first to compare the frequency of the peroxisome proliferator-activated receptor (PPAR)alpha-L162V polymorphism in a sample of men with and witho...

journal_title：Journal of human genetics

authors： Robitaille J,Brouillette C,Houde A,Lemieux S,Pérusse L,Tchernof A,Gaudet D,Vohl MC

更新日期：2004-01-01 00:00:00

abstract：:Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the...

journal_title：Journal of human genetics

authors： Nishiyama T,Notohara M,Sumi S,Takami S,Kishino H

更新日期：2009-12-01 00:00:00

abstract：:Human APOBEC3H (A3H) is a member of APOBEC cytidine deaminase family intensively constraining the HIV-1 replication. A3H is known to be polymorphic with different protein stability and anti-HIV-1 activity in vitro. We recently reported that A3H haplotypes composed of two functional polymorphisms, rs139292 (N15del) and...

journal_title：Journal of human genetics

authors： Naruse TK,Sakurai D,Ohtani H,Sharma G,Sharma SK,Vajpayee M,Mehra NK,Kaur G,Kimura A

更新日期：2016-03-01 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：:Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, whi...

journal_title：Journal of human genetics

authors： Busch CP,Harris SB,Hanley AJ,Zinman B,Hegele RA

更新日期：1999-01-01 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：:Genetic and lifestyle factors are important in the pathogenesis of osteoporosis. We investigated the relationships of PvuII and XbaI polymorphisms of the estrogen receptor alpha (ER-alpha) gene, lifestyle factors with speed of sound at the calcaneus (calcaneal SOS) and osteoporosis in a population-based study of 140 h...

journal_title：Journal of human genetics

authors： Binh TQ,Shinka T,Khan NC,Hien VTT,Lam NT,Mai LB,Nakano T,Sei M,Yamamoto S,Nakamori M,Nakahori Y

更新日期：2006-01-01 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：: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：: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：:The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype-phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6 encodes a 13 kiloDaltons subunit, which is part of the peripheral arm of complex I and is localized in the iron-sulfur fraction. Only...

journal_title：Journal of human genetics

authors： Rouzier C,Chaussenot A,Fragaki K,Serre V,Ait-El-Mkadem S,Richelme C,Paquis-Flucklinger V,Bannwarth S

更新日期：2019-07-01 00:00:00

abstract：:Following the recent completion of the human genome sequence, genomics research has shifted its focus to understanding gene complexity, expression, and regulation. However, in order to investigate such issues, there is a need to develop a practical system for genomic DNA expression. Transformation-associated recombina...

journal_title：Journal of human genetics

authors： Ayabe F,Katoh M,Inoue T,Kouprina N,Larionov V,Oshimura M

更新日期：2005-01-01 00:00:00

abstract：:The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was...

journal_title：Journal of human genetics

authors： Amino T,Ishikawa K,Toru S,Ishiguro T,Sato N,Tsunemi T,Murata M,Kobayashi K,Inazawa J,Toda T,Mizusawa H

更新日期：2007-01-01 00:00:00

abstract：:De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138...

journal_title：Journal of human genetics

authors： Bhola PT,Hartley T,Bareke E,Care4Rare Canada Consortium.,Boycott KM,Nikkel SM,Dyment DA

更新日期：2017-06-01 00:00:00

abstract：:Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified...

journal_title：Journal of human genetics

authors： Zhang W,Hayata I

更新日期：2003-01-01 00:00:00