Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.

abstract：:Bradycardia is a trigger of ventricular arrhythmias in patients with arrhythmia including Brugada syndrome and long QT syndrome. The HCN4 channel controls the heart rate, and its mutations predispose to inherited sick sinus syndrome and long QT syndrome associated with bradycardia. We found a 4 base-insertion at the s...

journal_title：Journal of human genetics

authors： Ueda K,Hirano Y,Higashiuesato Y,Aizawa Y,Hayashi T,Inagaki N,Tana T,Ohya Y,Takishita S,Muratani H,Hiraoka M,Kimura A

更新日期：2009-02-01 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：:To date, genome-wide meta-analyses have identified genetic susceptibility to type 2 diabetes mellitus (T2D) predominantly in populations of European ancestry. However, comprehensive genetic-risk assessment based on previous GWAS loci has not been fully tested in non-European populations. To evaluate whether a genetic-...

journal_title：Journal of human genetics

authors： Go MJ,Lee Y,Park S,Kwak SH,Kim BJ,Lee J

更新日期：2016-12-01 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：:Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...

journal_title：Journal of human genetics

authors： Zhu MM,Li HL,Shi LH,Chen XP,Luo J,Zhang ZL

更新日期：2017-12-01 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：:Deletion of exons 45-55 (del45-55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good candidate for the goal of a multiple exon-skipping strategy. We have precisely characteri...

journal_title：Journal of human genetics

authors： Miyazaki D,Yoshida K,Fukushima K,Nakamura A,Suzuki K,Sato T,Takeda S,Ikeda S

更新日期：2009-02-01 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：:A couple was referred for exploration of repetitive abortions. The man was found to be a carrier of a balanced reciprocal translocation t(9;10)(q11;p11.1). The meiotic segregation of chromosomes 9 and 10 was analysed in 5,157 spermatozoa from this translocation carrier and in 15,255 spermatozoa from three control dono...

journal_title：Journal of human genetics

authors： Rives N,Jarnot M,Mousset-Siméon N,Joly G,Macé B

更新日期：2003-01-01 00:00:00

abstract：:Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese obs...

journal_title：Journal of human genetics

authors： Zimowski JG,Pawelec M,Purzycka JK,Szirkowiec W,Zaremba J

更新日期：2017-10-01 00:00:00

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：:Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer p...

journal_title：Journal of human genetics

authors： Mannan AU,Singh J,Lakshmikeshava R,Thota N,Singh S,Sowmya TS,Mishra A,Sinha A,Deshwal S,Soni MR,Chandrasekar A,Ramesh B,Ramamurthy B,Padhi S,Manek P,Ramalingam R,Kapoor S,Ghosh M,Sankaran S,Ghosh A,Veeramachaneni

更新日期：2016-06-01 00:00:00

abstract：:Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic diso...

journal_title：Journal of human genetics

authors： Gillentine MA,Lupo PJ,Stankiewicz P,Schaaf CP

更新日期：2018-07-01 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：:Mutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p...

journal_title：Journal of human genetics

authors： Kim IJ,Kang HC,Shin Y,Park HW,Jang SG,Han SY,Lim SK,Lee MR,Chang HJ,Ku JL,Yang HK,Park JG

更新日期：2004-01-01 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：:CYP2C9 is the key enzyme in aromatic antiepileptic drugs (AEDs) metabolism. CYP2C9*3 is a loss of function polymorphism. This study was designed to investigate genetic association between CYP2C9*3 and aromatic AED-induced severe cutaneous adverse reactions (SCARs) in Thai children. The 37 aromatic AED-induced SCARs pa...

journal_title：Journal of human genetics

authors： Suvichapanich S,Jittikoon J,Wichukchinda N,Kamchaisatian W,Visudtibhan A,Benjapopitak S,Nakornchai S,Manuyakorn W,Mahasirimongkol S

更新日期：2015-08-01 00:00:00

abstract：:Single nucleotide polymorphism (SNP) interaction plays a critical role for complex diseases. The primary limitation of logistic regressions (LR) in testing SNP-SNP interactions is that coefficient estimates may not be valid because of numerous terms in a model. Multivariate adaptive regression splines (MARS) have usef...

journal_title：Journal of human genetics

authors： Lin HY,Wang W,Liu YH,Soong SJ,York TP,Myers L,Hu JJ

更新日期：2008-01-01 00:00:00

abstract：:The Japanese Genetic Research Group for Eating Disorders (JGRED) is a multisite collaborative study group that was organized for the systematic recruitment of patients with an eating disorder for the purpose of genetic study in Japan. We conducted a genome-wide case-control association study using 23 465 highly polymo...

journal_title：Journal of human genetics

authors： Nakabayashi K,Komaki G,Tajima A,Ando T,Ishikawa M,Nomoto J,Hata K,Oka A,Inoko H,Sasazuki T,Japanese Genetic Research Group for Eating Disorders (JGRED).,Shirasawa S

更新日期：2009-09-01 00:00:00

abstract：:Erythropoietic protoporphyria (EPP) is an inherited disorder, caused by a partial deficiency of ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway. The deficiency results in accumulation of protoporphyrin, primarily in erythroid cells, and the major clinical feature is cutaneous photosensitivity. ...

journal_title：Journal of human genetics

authors： Wiman A,Floderus Y,Harper P

更新日期：2003-01-01 00:00:00

abstract：:We have performed a comprehensive analysis of gene-expression profiles in human articular cartilage (hyaline cartilage) and meniscus (fibrocartilage) by means of a cDNA microarray consisting of 23,040 human genes. Comparing the profiles of the two types of cartilage with those of 29 other normal human tissues identifi...

journal_title：Journal of human genetics

authors： Ochi K,Daigo Y,Katagiri T,Saito-Hisaminato A,Tsunoda T,Toyama Y,Matsumoto H,Nakamura Y

更新日期：2003-01-01 00:00:00

abstract：:Several epidemiological and genetic studies have suggested that the risk of type II diabetes (T2D) is likely to overlap with the susceptibility to psychotic disorders such as schizophrenia (SCZ) and bipolar disorder (BD). In this study, we aimed to examine the association of single-nucleotide polymorphisms (SNPs) dete...

journal_title：Journal of human genetics

authors： Kajio Y,Kondo K,Saito T,Iwayama Y,Aleksic B,Yamada K,Toyota T,Hattori E,Ujike H,Inada T,Kunugi H,Kato T,Yoshikawa T,Ozaki N,Ikeda M,Iwata N

更新日期：2014-01-01 00:00:00

abstract：:The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). I...

journal_title：Journal of human genetics

authors： Kobayashi M,Ohashi T,Kaneshiro E,Higuchi T,Ida H

更新日期：2019-07-01 00:00:00

abstract：:Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations. The V190G, Q267R and F392I mutations are first reported in this study. The most common...

journal_title：Journal of human genetics

authors： Liang Y,Huang MZ,Cheng CY,Chao HK,Fwu VT,Chiang SH,Hsiao KJ,Niu DM,Su TS

更新日期：2014-03-01 00:00:00

abstract：:A full-length cDNA encoding a novel protein was isolated and sequenced from a human placental cDNA library. This cDNA consists of 1,735 base pairs and has a predicted open reading frame (ORF) encoding 354 amino acids. It possesses a putative signal sequence, a long extracellular domain, a transmembrane region, a short...

journal_title：Journal of human genetics

authors： Ichigotani Y,Matsuda S,Machida K,Oshima K,Iwamoto T,Yamaki K,Hayakawa T,Hamaguchi M

更新日期：2000-01-01 00:00:00

abstract：:Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G994 (V allele) --> T (F allele...

journal_title：Journal of human genetics

authors： Yamada Y,Ichihara S,Izawa H,Tanaka M,Yokota M

更新日期：2001-01-01 00:00:00

abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12. The longest continuous open reading frame comprises 66 exons encoding a novel 4,074 aa multidomain integral membrane protein (polyductin/fibrocystin) of unknown f...

journal_title：Journal of human genetics

authors： Bergmann C,Frank V,Küpper F,Schmidt C,Senderek J,Zerres K

更新日期：2006-01-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase II (CPT2) are key enzymes for transporting long-chain fatty acids into mitochondria. Deficiencies of these enzymes, which are clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis, cannot be distinguished b...

journal_title：Journal of human genetics

authors： Fukushima T,Kaneoka H,Yasuno T,Sasaguri Y,Tokuyasu T,Tokoro K,Fukao T,Saito T

更新日期：2013-12-01 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：:The DExH/D-box superfamily of RNA helicases seems to play key roles during RNA metabolism, such as pre-mRNA splicing, ribosome biogenesis, and others. We have cloned a new gene of the DEAH-box protein subgroup, designated DDX40 (DEAD/H-box polypeptide 40 gene). DDX40 contains 3656 nucleotides and codes for a putative ...

journal_title：Journal of human genetics

authors： Xu J,Wu H,Zhang C,Cao Y,Wang L,Zeng L,Ye X,Wu Q,Dai J,Xie Y,Mao Y

更新日期：2002-01-01 00:00:00