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


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


J Hum Genet


Paradisi I,Hernández A,Arias S




Has Abstract


2008-04-01 00:00:00














  • Overestimated frequency of a possible emphysema-susceptibility allele when microsomal epoxide hydrolase is genotyped by the conventional polymerase chain reaction-based method.

    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

    pub_type: 杂志文章


    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

  • New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

    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

    pub_type: 杂志文章


    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

  • The genomic structure and expression of MJD, the Machado-Joseph disease gene.

    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

    pub_type: 杂志文章


    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

  • NDUFS6 related Leigh syndrome: a case report and review of the literature.

    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

    pub_type: 杂志文章,评审


    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

  • DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients.

    abstract::DNase II is an important enzyme for DNA fragmentation and degradation during programmed cell death and, consequently, a potential candidate gene for genetic study of systemic lupus erythematosus (SLE). Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE. A total o...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Shin HD,Park BL,Cheong HS,Lee HS,Jun JB,Bae SC

    更新日期:2005-01-01 00:00:00

  • CRISPR/Cas9 library screening for drug target discovery.

    abstract::CRISPR/Cas9-based tools have rapidly developed in recent years. These include CRISPR-based gene activation (CRISPRa) or inhibition (CRISPRi), for which there are libraries. CRISPR libraries for loss of function have been widely used to identify new biological mechanisms, such as drug resistance and cell survival signa...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审


    authors: Kurata M,Yamamoto K,Moriarity BS,Kitagawa M,Largaespada DA

    更新日期:2018-02-01 00:00:00

  • Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

    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

    pub_type: 杂志文章


    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

  • 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


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

    更新日期:2011-06-01 00:00:00

  • Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

    abstract::Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrr...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Guo L,Girisha KM,Iida A,Hebbar M,Shukla A,Shah H,Nishimura G,Matsumoto N,Nismath S,Miyake N,Ikegawa S

    更新日期:2017-03-01 00:00:00

  • Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer.

    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

    pub_type: 杂志文章


    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

  • Linkage analysis of two families with X-linked recessive congenital motor nystagmus.

    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

    pub_type: 杂志文章


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

    更新日期:2006-01-01 00:00:00

  • Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

    abstract::Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients fr...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审


    authors: Kim YM,Seo GH,Jung E,Jang JH,Kim SZ,Lee BH

    更新日期:2018-03-01 00:00:00

  • Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

    abstract::As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a candidate gene for Kallmann syndrome, a disease of idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or hyposmia. ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Miura K,Acierno JS Jr,Seminara SB

    更新日期:2004-01-01 00:00:00

  • 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_title:Journal of human genetics

    pub_type: 杂志文章,已发布勘误


    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

    更新日期:2006-03-01 00:00:00

  • Identification of a novel human DDX40gene, a new member of the DEAH-box protein family.

    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

    pub_type: 杂志文章


    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

  • Transitional change in interaction between HIF-1 and HNF-4 in response to hypoxia.

    abstract::The roles of the erythropoietin (Epo) 3' enhancer in the activation of gene expression in response to hypoxia were investigated. The enhancer contains hypoxia-inducible enhancer binding site 1 (HIF-1 element) and two direct repeats of hexanucleotide consensus nuclear receptor half site (HNF-4 element). HIF-1, which is...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Zhang W,Tsuchiya T,Yasukochi Y

    更新日期:1999-01-01 00:00:00

  • alpha-1-Antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease.

    abstract::alpha-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions. and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular dise...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Tachikawa H,Tsuda M,Onoe K,Ueno M,Takagi S,Shinohara Y

    更新日期:2001-01-01 00:00:00

  • Noncoding RNA and colorectal cancer: its epigenetic role.

    abstract::The use of novel sequencing and high-throughput techniques has become widespread, and are now readily available to obtain the comprehensive transcription profile of the human genome. Noncoding RNAs (ncRNAs) are transcripts that have no apparent protein-coding capacity, but they have important roles in human physiology...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审


    authors: Kita Y,Yonemori K,Osako Y,Baba K,Mori S,Maemura K,Natsugoe S

    更新日期:2017-01-01 00:00:00

  • Resequencing of the characterised CTGF gene to identify novel or known variants, and analysis of their association with diabetic nephropathy.

    abstract::Connective tissue growth factor (CTGF) has been implicated in the pathogenesis of diabetic nephropathy; however, to date there have been no reports of genomic analysis on this gene. The CTGF gene was comprehensively screened using WAVE (dHPLC) technology and direct capillary sequencing. Single nucleotide polymorphisms...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: McKnight AJ,Savage DA,Patterson CC,Brady HR,Maxwell AP

    更新日期:2006-01-01 00:00:00

  • Thalamic transcriptome screening in three psychiatric states.

    abstract::The prefrontal cortex has been implicated in schizophrenia (SZ) and affective disorders by gene expression studies. Owing to reciprocal connectivity, the thalamic nuclei and their cortical fields act as functional units. Altered thalamic gene expression would be expected to occur in association with cortical dysfuncti...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Chu TT,Liu Y,Kemether E

    更新日期:2009-11-01 00:00:00

  • Association analysis of CYP2C9*3 and phenytoin-induced severe cutaneous adverse reactions (SCARs) in Thai epilepsy children.

    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

    pub_type: 杂志文章


    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

  • Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

    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

    pub_type: 杂志文章


    authors: Namba A,Abe S,Shinkawa H,Kimberling WJ,Usami SI

    更新日期:2001-01-01 00:00:00

  • A functional polymorphism (-603A --> G) in the tissue factor gene promoter is associated with adult-onset asthma.

    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

    pub_type: 杂志文章


    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

  • Haplotype analysis at the alcohol dehydrogenase gene region in New Zealand Māori.

    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

    pub_type: 杂志文章


    authors: Hall DA,Chambers GK,Lea RA

    更新日期:2007-01-01 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


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

    更新日期:2017-04-01 00:00:00

  • Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population.

    abstract::We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in nine genes encoding components of ATP-binding cassette subfamily B (ABCB/MDR/TAP) by directly sequencing the entire applicable genomic regions except for repetitive elements. This approach identified 297 SNPs and 29 insertion/d...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Saito S,Iida A,Sekine A,Miura Y,Ogawa C,Kawauchi S,Higuchi S,Nakamura Y

    更新日期:2002-01-01 00:00:00

  • Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

    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

    pub_type: 杂志文章


    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

  • Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women.

    abstract::Estrogen was considered to be an important protective factor for cardiovascular diseases in women. Genetic association studies suggested that variations of ESR1and ESR2 genes might have a potential role in lipid profile. Our study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) of ESR1 a...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Zhao T,Zhang D,Liu Y,Zhou D,Chen Z,Yang Y,Li S,Yu L,Zhang Z,Feng G,He L,Xu H

    更新日期:2010-01-01 00:00:00

  • Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

    abstract::Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chrom...

    journal_title:Journal of human genetics

    pub_type: 杂志文章


    authors: Wang H,Wang X,He C,Li H,Qing J,Grati M,Hu Z,Li J,Hu Y,Xia K,Mei L,Wang X,Yu J,Chen H,Jiang L,Liu Y,Men M,Zhang H,Guan L,Xiao J,Zhang J,Liu X,Feng Y

    更新日期:2015-03-01 00:00:00

  • Identification of novel FBN1 variations implicated in congenital scoliosis.

    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

    pub_type: 杂志文章


    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