Erratum to: Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Abstract:

:The name Fon-Jou Hsieh was inadvertently omitted from the list of authors. The name should be added as the third author of the article.

journal_name

J Hum Genet

authors

Lai LP,Su YN,Hsieh FJ,Chiang FT,Juang JM,Liu YB,Ho YL,Chen WJ,Yeh SJ,Wang CC,Ko YL,Wu TJ,Ueng KC,Lei MH,Tsao HM,Chen SA,Lin TK,Wu MH,Lo HM,Huang SKS,Lin JL

doi

10.1007/s10038-006-0367-8

subject

Has Abstract

pub_date

2006-03-01 00:00:00

pages

267

issue

3

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-006-0367-8

journal_volume

51

pub_type

杂志文章,已发布勘误
  • Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis.

    abstract::Association studies on the MTHFR polymorphisms (C677T and A1298C) in colorectal cancer (CRC) and colorectal adenoma have shown conflicting results. We performed a meta-analysis to better assess the purported associations. Overall, the 677T allele (10,131 patients and 15,362 controls) showed a small but significant pro...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1007/s10038-006-0082-5

    authors: Huang Y,Han S,Li Y,Mao Y,Xie Y

    更新日期:2007-01-01 00:00:00

  • High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2.

    abstract::We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380170029

    authors: Iida A,Ohnishi Y,Ozaki K,Ariji Y,Nakamura Y,Tanaka T

    更新日期:2001-01-01 00:00:00

  • A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

    abstract::Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-020-0765-3

    authors: Sakamoto M,Kouhei D,Haniffa M,Silva S,Troncoso M,Santander P,Schonstedt V,Stecher X,Okamoto N,Hamanaka K,Mizuguchi T,Mitsuhashi S,Miyake N,Matsumoto N

    更新日期:2020-09-01 00:00:00

  • Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.

    abstract::Ectopic periarticular calcifications associated with elevated levels of serum phosphate represent the principal clinical features of hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal recessive metabolic disorder. The disease can be caused by recessive mutations in at least two different genes: Gal...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-007-0126-5

    authors: Barbieri AM,Filopanti M,Bua G,Beck-Peccoz P

    更新日期:2007-01-01 00:00:00

  • Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.

    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

    pub_type: 杂志文章

    doi:10.1038/jhg.2017.79

    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

  • Erratum to: Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.

    abstract::In Table 2, a column heading was inadvertently omitted. Corrected table is as follows. ...

    journal_title:Journal of human genetics

    pub_type: 已发布勘误

    doi:10.1007/s10038-008-0256-4

    authors: Paradisi I,Hernández A,Arias S

    更新日期:2008-04-01 00:00:00

  • Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.

    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

    pub_type: 杂志文章

    doi:10.1007/s100380200077

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

    更新日期:2002-01-01 00:00:00

  • A grid-search algorithm for optimal allocation of sample size in two-stage association studies.

    abstract::Multiple testing occurs commonly in genome-wide association studies with dense SNPs map. With numerous SNPs, not only the genotyping cost and time increase dramatically, many family wise error rate (FWER) controlling methods may fail for being too conservative and of less power when detecting SNPs associated with dise...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-007-0159-9

    authors: Wen SH,Hsiao CK

    更新日期:2007-01-01 00:00:00

  • Interleukin 3 (IL3) polymorphisms associated with decreased risk of asthma and atopy.

    abstract::Cytokines, having central functions in immunological and inflammatory process, are always expected to play important roles in the pathogenesis of various diseases, such as asthma. Genetic polymorphisms of those cytokine and cytokine receptor genes are the focus of genetic association studies. In an effort to identify ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-004-0184-x

    authors: Park BL,Kim LH,Choi YH,Lee JH,Rhim T,Lee YM,Uh ST,Park HS,Choi BW,Hong SJ,Park CS,Shin HD

    更新日期:2004-01-01 00:00:00

  • Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.

    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

    pub_type: 杂志文章

    doi:10.1038/jhg.2013.103

    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

  • Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene.

    abstract::Interleukin (IL11) is a member of the interleukin 6 (IL6)-related cytokine subfamily, which stimulates T cell-dependent development of immunoglobulin-producing B cells. IL11 is also an important paracrine regulator of bone metabolism that induces formation of osteoclasts. In the work reported here, we sequenced the en...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380170052

    authors: Shinohara Y,Ezura Y,Iwasaki H,Nakazawa I,Ishida R,Kodaira M,Kajita M,Shiba T,Emi M

    更新日期:2001-01-01 00:00:00

  • Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

    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

    pub_type: 杂志文章

    doi:10.1038/jhg.2017.38

    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

  • Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.

    abstract::Recently, pharmacological chaperone therapy for Pompe disease with small molecules such as imino sugars has attracted interest. But mutant acid α-glucosidase (GAA) species responsive to imino sugars are limited. To elucidate the characteristics of a mutant GAA responsive to imino sugars, we performed biochemical and s...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2011.36

    authors: Tajima Y,Saito S,Ohno K,Tsukimura T,Tsujino S,Sakuraba H

    更新日期:2011-06-01 00:00:00

  • Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients.

    abstract::Plasma lipoprotein-associated phospholipase A2 (Lp-PLA2), also known as platelet-activating factor (PAF) acetylhydrolase (PAF-AH), is a member of the serine-dependent class of A2 phospholipases that hydrolyze sn2-ester bonds of fragmented or oxidized phospholipids at sites where atherosclerotic plaques are forming. Mo...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-004-0151-6

    authors: Ishihara M,Iwasaki T,Nagano M,Ishii J,Takano M,Kujiraoka T,Tsuji M,Hattori H,Emi M

    更新日期:2004-01-01 00:00:00

  • A novel sequence variant in SFRP4 causing Pyle disease.

    abstract::Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel ho...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2016.166

    authors: Galada C,Shah H,Shukla A,Girisha KM

    更新日期:2017-04-01 00:00:00

  • Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

    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

    pub_type: 杂志文章

    doi:10.1038/jhg.2010.155

    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

  • Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

    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

    pub_type: 杂志文章

    doi:10.1038/s10038-020-0800-4

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

    更新日期:2020-12-01 00:00:00

  • A two-stage case-control association study of the dihydropyrimidinase-like 2 gene (DPYSL2) with schizophrenia in Japanese subjects.

    abstract::We examined the association of schizophrenia (SCZ) and dihydropyrimidinase-like 2 (DPYSL2), also known as collapsin response mediator protein 2, which regulates axonal growth and branching. We genotyped 20 tag single nucleotide polymorphisms (SNPs) in 1464 patients and 1310 controls. There were two potential associati...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2010.38

    authors: Koide T,Aleksic B,Ito Y,Usui H,Yoshimi A,Inada T,Suzuki M,Hashimoto R,Takeda M,Iwata N,Ozaki N

    更新日期:2010-07-01 00:00:00

  • INPPL1 gene mutations in opsismodysplasia.

    abstract::The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the a...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/jhg.2016.119

    authors: Fradet A,Fitzgerald J

    更新日期:2017-02-01 00:00:00

  • The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

    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

    pub_type: 杂志文章

    doi:10.1038/jhg.2013.136

    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

  • Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.

    abstract::Prader-Willi syndrome (PWS) is primarily caused by deletions involving the paternally derived imprinted region at chromosome 15q11.2-q13 and maternal uniparental disomy 15 (upd(15)mat). The underlying mechanisms for upd(15)mat include trisomy rescue (TR), gamete complementation (GC), monosomy rescue and post-fertiliza...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2011.59

    authors: Matsubara K,Murakami N,Nagai T,Ogata T

    更新日期:2011-08-01 00:00:00

  • Tissue specificity of methylation and expression of human genes coding for neuropeptides and their receptors, and of a human endogenous retrovirus K family.

    abstract::The purpose of the present study was to understand the tissue specificity of DNA methylation and the relationship between methylation and expression of genes with essential roles in neurodevelopment and brain function. We chose dopamine receptor genes (DRD1 and DRD2), NCAM, and COMT as examples of genes with CpG islan...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-006-0382-9

    authors: Shen HM,Nakamura A,Sugimoto J,Sakumoto N,Oda T,Jinno Y,Okazaki Y

    更新日期:2006-01-01 00:00:00

  • Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

    abstract::Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart automaticity and continuously regulates heart rate. The CACNA1D gene enco...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-018-0542-8

    authors: Liaqat K,Schrauwen I,Raza SI,Lee K,Hussain S,Chakchouk I,Nasir A,Acharya A,Abbe I,Umair M,Ansar M,Ullah I,Shah K,University of Washington Center for Mendelian Genomics.,Bamshad MJ,Nickerson DA,Ahmad W,Leal SM

    更新日期:2019-02-01 00:00:00

  • Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population.

    abstract::Recently, ubiquitin-specific peptidase 46 (Usp46) has been identified as a quantitative trait gene responsible for immobility in the tail suspension test and forced swimming test in mice. Mice with 3-bp deletion in Usp46 exhibited loss of 'behavioral despair' under inescapable stresses in addition to abnormalities in ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2009.139

    authors: Kushima I,Aleksic B,Ito Y,Nakamura Y,Nakamura K,Mori N,Kikuchi M,Inada T,Kunugi H,Nanko S,Kato T,Yoshikawa T,Ujike H,Suzuki M,Iwata N,Ozaki N

    更新日期:2010-03-01 00:00:00

  • GNE myopathy in Chinese population: hotspot and novel mutations.

    abstract::GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-018-0525-9

    authors: Chen Y,Xi J,Zhu W,Lin J,Luo S,Yue D,Cai S,Sun C,Zhao C,Mitsuhashi S,Nishino I,Xu M,Lu J

    更新日期:2019-01-01 00:00:00

  • Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

    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

    pub_type: 杂志文章

    doi:10.1038/s10038-019-0599-z

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

    更新日期:2019-07-01 00:00:00

  • Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5.

    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

    pub_type: 杂志文章

    doi:10.1038/jhg.2013.10

    authors: Everett KV,Chung EM

    更新日期:2013-04-01 00:00:00

  • Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

    abstract::The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2016.104

    authors: Hortigüela M,Fernández-Marmiesse A,Cantarín V,Gouveia S,García-Peñas JJ,Fons C,Armstrong J,Barrios D,Díaz-Flores F,Tirado P,Couce ML,Gutiérrez-Solana LG

    更新日期:2017-02-01 00:00:00

  • Novel locus for fibrinogen in 3' region of LEPR gene in island population of Vis (Croatia).

    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

    pub_type: 杂志文章

    doi:10.1038/jhg.2014.82

    authors: Tomas Ž,Petranović MZ,Škarić-Jurić T,Barešić A,Salihović MP,Narančić NS

    更新日期:2014-11-01 00:00:00

  • Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes.

    abstract::mRNA is an important tool to study the effects of particular mutations on the mode of splicing and transcripts. However, it is often difficult to isolate mRNA because the organ or tissue in which the gene is expressed cannot be sampled. We previously identified two probable splicing mutations (c.6485+5G>A and c.8559-2...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2010.83

    authors: Nakanishi H,Ohtsubo M,Iwasaki S,Hotta Y,Mizuta K,Mineta H,Minoshima S

    更新日期:2010-10-01 00:00:00