当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Characterization of a VNTR polymorphism in the coding region of the CEL gene.

Characterization of a VNTR polymorphism in the coding region of the CEL gene.

Abstract：

:Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. We characterized its polymorphic features and found that there are five different alleles in Japanese populations and six in Caucasians. The allele containing 16 repeats is the most common in both populations. Although the distribution of the alleles seemed to be different in the two populations, the difference was not statistically significant. This polymorphism may influence the function of this enzyme and be a useful genetic marker to study diseases associated with cholesterol absorption.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Higuchi S,Nakamura Y,Saito S

doi

10.1007/s100380200027

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

213-5

issue

4

eissn

1434-5161

issn

1435-232X

journal_volume

47

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution.

    abstract：:We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-re...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050145

    authors： Hirata K,Nakagawa M,Higuchi I,Hashimoto K,Hanada K,Takahashi K,Niiyama T,Izumi K,Sakoda S,Yamada H,Osame M

    更新日期：1999-01-01 00:00:00

  • Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

    abstract：:Mutations in BRCA genes elevate risk for breast and ovarian cancer. These mutations are population specific. As there are no data on BRCA mutation screening on larger number of probands in Serbia to date, aim of this study was to determine types and frequencies of BRCA mutations in individuals from high-risk families ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.30

    authors： Dobričić J,Krivokuća A,Brotto K,Mališić E,Radulović S,Branković-Magić M

    更新日期：2013-08-01 00:00:00

  • New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome.

    abstract：:We used magnetic resonance imaging (MRI) to examine the brain of a typical Coffin-Lowry syndrome (CLS) patient. There were many small perivascular focal areas of hypointensity in the white matter on T1-weighted images, similar to those found in mucopolysaccharidosis or perivascular leukomalacia. However, these changes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050038

    authors： Kondoh T,Matsumoto T,Ochi M,Sukegawa K,Tsuji Y

    更新日期：1998-01-01 00:00:00

  • DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.

    abstract：:Intracellular concentrations of the nucleotide inosine triphosphate (ITP) are regulated by ITP-ase (EC 3.6.1.19), which is encoded by ITPA on chromosome 20p. Subjects with complete deficiency of ITP-ase activity (MIM 147520) have elevated ITP concentrations in erythrocytes, but no obvious clinical abnormalities. Based...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200095

    authors： Cao H,Hegele RA

    更新日期：2002-01-01 00:00:00

  • Tissue-specific differentially methylated regions of the human VASA gene are potentially associated with maturation arrest phenotype in the testis.

    abstract：:Numerous CpG islands containing tissue-specific differentially methylated regions (TDMRs) are potential methylation sites in normal cells and tissues. The VASA (also known as DDX4) gene is believed to be under the control of TDMRs. A total of 131 male patients with idiopathic azoospermia or severe oligospermia were ev...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.59

    authors： Sugimoto K,Koh E,Sin HS,Maeda Y,Narimoto K,Izumi K,Kobori Y,Kitamura E,Nagase H,Yoshida A,Namiki M

    更新日期：2009-08-01 00:00:00

  • A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.

    abstract：:Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA gene, which encodes ectodysplasin-A, are responsible for X-linked HED (XLHED). In the present study,...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0071-8

    authors： Huang C,Yang Q,Ke T,Wang H,Wang X,Shen J,Tu X,Tian J,Liu JY,Wang QK,Liu M

    更新日期：2006-01-01 00:00:00

  • Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula.

    abstract：:Modern day Iran is strategically located in the tri-continental corridor uniting Africa, Europe and Asia. Several ethnic groups belonging to distinct religions, speaking different languages and claiming divergent ancestries inhabit the region, generating a potentially diverse genetic reservoir. In addition, past pre-h...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.174

    authors： Terreros MC,Rowold DJ,Mirabal S,Herrera RJ

    更新日期：2011-03-01 00:00:00

  • Genomic structure of the gene encoding human 3-hydroxy-3-methyl-glutaryl coenzyme A reductase: comparison of exon/intron organization of sterol-sensing domains among four related genes.

    abstract：:We determined the genomic structure of the human gene encoding 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate and is the rate-limiting and major regulatory enzyme in sterol biosynthesis. The gene is more than 21 kb long, about five times the size of i...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380070017

    authors： Nakajima T,Iwaki K,Hamakubo T,Kodama T,Emi M

    更新日期：2000-01-01 00:00:00

  • Robust imaging and gene delivery to study human lymphoblastoid cell lines.

    abstract：:Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few studies have explored the use of LCLs in functional genomics and mechanistic stud...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0483-2

    authors： Jolly LA,Sun Y,Carroll R,Homan CC,Gecz J

    更新日期：2018-09-01 00:00:00

  • No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.

    abstract：:Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and intellectual disability. AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly variable features. PP...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.1

    authors： Izzi B,de Zegher F,Francois I,del Favero J,Goossens D,Wittevrongel C,Thys C,Van Geet C,Freson K

    更新日期：2012-04-01 00:00:00

  • Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.

    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

    pub_type： 杂志文章

    doi：10.1038/jhg.2008.8

    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

  • Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers.

    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

    pub_type： 杂志文章,多中心研究

    doi：10.1038/jhg.2009.74

    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

  • Characterization of genomic rearrangements of the alpha1-acid glycoprotein/orosomucoid gene in Ghanaians.

    abstract：:In this study, the structure of the alpha1-acid glycoprotein (AGP), or orosomucoid (ORM), gene was investigated in a Ghanaian mother and her child, who shared an unusual variant, ORM1 S2(C), found by isoelectric focusing. Three remarkable changes of nucleotide sequence were observed: (1) The two ORM1 alleles, ORMI*S a...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170023

    authors： Yuasa I,Nakamura H,Henke L,Henke J,Nakagawa M,Irizawa Y,Umetsu K

    更新日期：2001-01-01 00:00:00

  • Unique origin of Andaman Islanders: insight from autosomal loci.

    abstract：:Our mtDNA and Y chromosome studies lead to the conclusion that the Andamanese "Negrito" mtDNA lineages have survived in the Andaman Islands in complete genetic isolation from other South and Southeast Asian populations since the initial settlement of the region by the out-of-Africa migration. In order to obtain a robu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0026-0

    authors： Thangaraj K,Chaubey G,Reddy AG,Singh VK,Singh L

    更新日期：2006-01-01 00:00:00

  • Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.

    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

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0317-x

    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

  • Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

    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

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.4

    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

  • 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

    doi：10.1038/s10038-021-00904-2

    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

  • Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy.

    abstract：:Behçet disease (BD) is an immune-mediated disease. The cause of BD remains unknown, but the existence of multiple pathological pathways is suspected, including different genetic factors. Polymorphisms in ERAP1 gene have been associated with an increased risk of BD. However, while current BD-associated ERAP1 variants a...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0709-y

    authors： Dimopoulou C,Lundgren JD,Sundal J,Ullum H,Aukrust P,Nielsen FC,Marvig RL

    更新日期：2020-03-01 00:00:00

  • Expression profiles of two types of human knee-joint cartilage.

    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

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0004-8

    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

  • The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.

    abstract：:Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the phenotype and severity of the disease vary in patients even if they ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0809-8

    authors： Miyake N,Heydari S,Garshasbi M,Saitoh S,Nasiri J,Hamanaka K,Takata A,Matsumoto N,Beheshti FH,Chaleshtori ARS

    更新日期：2020-10-09 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

  • Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

    abstract：:Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. Individuals bearing the complete form of the disease (CAIS) present a female phenotype and a lack of pubic and axillary hair. In the present study, four 46,XY patients...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0036-0

    authors： Vilchis F,Ramos L,Kofman-Alfaro S,Zenteno JC,Méndez JP,Chávez B

    更新日期：2003-01-01 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

  • Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.

    abstract：:Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast cancer cases, and therefore, BRCA1 and BRCA2 genetic testing has become increasingly common in clinical practice. However, variants of uncertain significance (VUS) have been detected in 16.3% of J...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.71

    authors： Kawaku S,Sato R,Song H,Bando Y,Arinami T,Noguchi E

    更新日期：2013-09-01 00:00:00

  • Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

    abstract：:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.146

    authors： Wang J,Shang J,Wu Y,Gu Q,Xiong H,Ding C,Wang L,Gao Z,Wu X,Jiang Y

    更新日期：2011-02-01 00:00:00

  • Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.

    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

    pub_type： 杂志文章

    doi：10.1007/s100380070038

    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

  • Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.

    abstract：:Osteoprotegerin (OPG), a secreted glycoprotein and a member of the tumor necrosis factor receptor superfamily, is considered to play an important role in the regulation of bone resorption by modifying osteoclast differentiation. Overexpression of OPG in mice has been reported to result in osteopetrosis, whereas target...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200058

    authors： Ohmori H,Makita Y,Funamizu M,Hirooka K,Hosoi T,Orimo H,Suzuki T,Ikari K,Nakajima T,Inoue I,Hata A

    更新日期：2002-01-01 00:00:00

  • Quantifying the uncertainty in heritability.

    abstract：:The use of mixed models to determine narrow-sense heritability and related quantities such as SNP heritability has received much recent attention. Less attention has been paid to the inherent variability in these estimates. One approach for quantifying variability in estimates of heritability is a frequentist approach...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.15

    authors： Furlotte NA,Heckerman D,Lippert C

    更新日期：2014-05-01 00:00:00

  • A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

    abstract：:We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HEC...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.53

    authors： Kato K,Miya F,Hori I,Ieda D,Ohashi K,Negishi Y,Hattori A,Okamoto N,Kato M,Tsunoda T,Yamasaki M,Kanemura Y,Kosaki K,Saitoh S

    更新日期：2017-09-01 00:00:00

  • High prevalence of an anti-hypertriglyceridemic variant of the MLXIPL gene in Central Asia.

    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

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.109

    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