当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

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. We report here characterization of NELF and results of mutation analysis in 65 IHH patients. Assembling EST clones, RACE, and sequencing showed that NELF mapped to 9q34.3 is composed of 16 exons and 15 introns with a 1,590-bp ORF encoding 530 amino acids. RT-PCR on a fetal brain cDNA library revealed five alternatively spliced variants. Among them, NELF-v1 has 93-94% identity at the amino acid level to mouse/rat Nelf, and four other transcripts are also highly conserved among the three species. A 3.0-kb transcript is expressed most highly in the adult and fetal brain, testis, and kidney, indicating that NELF plays a role in the function of these tissues. Mutation screening detected in a patient with IHH one novel heterozygous missense mutation (1438A>G, T480A) at the donor-splice site in exon 15 of NELF. As this mutation was not found in 100 normal control individuals, T480A may be associated with IHH. Four other novel SNPs (102C > T and 1029C > T within the coding region, and two IVS14+47C > T and IVS15+41G > A) were also identified in NELF.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Miura K,Acierno JS Jr,Seminara SB

doi

10.1007/s10038-004-0137-4

keywords:

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

265-8

issue

5

eissn

1434-5161

issn

1435-232X

journal_volume

49

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

    abstract：:Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pre...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.92

    authors： Midro AT,Panasiuk B,Stasiewicz-Jarocka B,Olszewska M,Wiland E,Myśliwiec M,Kurpisz M,Shaffer LG,Gajecka M

    更新日期：2014-12-01 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

    doi：10.1038/jhg.2013.67

    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

  • Human endogenous retroviruses with transcriptional potential in the brain.

    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

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0081-8

    authors： Nakamura A,Okazaki Y,Sugimoto J,Oda T,Jinno Y

    更新日期：2003-01-01 00:00:00

  • 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

  • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

    abstract：:Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.96

    authors： Yamaguchi K,Watanabe C,Kawaguchi A,Sato T,Naka I,Shindo M,Moromizato K,Aoki K,Ishida H,Kimura R

    更新日期：2012-11-26 00:00:00

  • A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

    abstract：:A 58 kb region on chromosome 9p21.3 has consistently shown strong association with coronary artery disease (CAD) in multiple genome-wide association studies in populations of European and East Asian ancestry. In this study, we sought to further characterize the role of genetic variants in 9p21.3 in African American in...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.171

    authors： Kral BG,Mathias RA,Suktitipat B,Ruczinski I,Vaidya D,Yanek LR,Quyyumi AA,Patel RS,Zafari AM,Vaccarino V,Hauser ER,Kraus WE,Becker LC,Becker DM

    更新日期：2011-03-01 00:00:00

  • The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan.

    abstract：:Trisomy 18 (T18) and trisomy 13 (T13) are major concerns in prenatal genetic testing due to their poor prognosis; very low birth weight (VLBW) is also a concern in neonatology. The aim of this study was to investigate the mortality and morbidity of VLBW infants diagnosed with T18/T13 in Japan, compared with those with...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00825-6

    authors： Kawasaki H,Yamada T,Takahashi Y,Nakayama T,Wada T,Kosugi S,Neonatal Research Network of Japan.

    更新日期：2021-03-01 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

  • 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

  • A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

    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

    pub_type： 杂志文章

    doi：10.1007/s100380200015

    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

  • 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

    doi：10.1038/s10038-019-0594-4

    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

  • 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

  • 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

  • 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

  • Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.

    abstract：:Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which t...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.19

    authors： Jang MA,Kim SY,Jeong BH,Park HY,Jeon K,Kim JW,Ki CS,Koh WJ

    更新日期：2013-05-01 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

  • Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

    abstract：:The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was sequenced in 79 unrel...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.81

    authors： Liu MY,Yang YL,Chang YC,Chiang SH,Lin SP,Han LS,Qi Y,Hsiao KJ,Liu TT

    更新日期：2010-09-01 00:00:00

  • De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

    abstract：:MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we rep...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2016.54

    authors： Fujita A,Isidor B,Piloquet H,Corre P,Okamoto N,Nakashima M,Tsurusaki Y,Saitsu H,Miyake N,Matsumoto N

    更新日期：2016-09-01 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

  • Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.

    abstract：:There is evidence that the obesity phenotype in the Caucasian populations is associated with variations in several genes, including neuronal growth regulator 1 (NEGR1), SEC16 homolog B (SCE16B), transmembrane protein 18 (TMEM18), ets variant 5 (ETV5), glucosamine-6-phosphate deaminase 2 (GNPDA2), prolactin (PRL), brai...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.106

    authors： Hotta K,Nakamura M,Nakamura T,Matsuo T,Nakata Y,Kamohara S,Miyatake N,Kotani K,Komatsu R,Itoh N,Mineo I,Wada J,Masuzaki H,Yoneda M,Nakajima A,Funahashi T,Miyazaki S,Tokunaga K,Kawamoto M,Ueno T,Hamaguchi K,Tanak

    更新日期：2009-12-01 00:00:00

  • Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities.

    abstract：:Factors predisposing to the phenotypic features of familial combined hyperlipidemia have not been clearly defined. In the course of investigating familial coronary artery disease in Utah, we identified a three-generation family in which multiple members were affected with type IIa hyperlipoproteinemia (HLP IIa), type ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050202

    authors： Wu LL,Hopkins PN,Xin Y,Stephenson SH,Williams RR,Nobe Y,Kajita M,Nakajima T,Emi M

    更新日期：2000-01-01 00:00:00

  • A frameshift variant of CYP2C8 was identified in a patient who suffered from rhabdomyolysis after administration of cerivastatin.

    abstract：:A hypercholesterolemic patient medicated with cerivastatin for 22 days resulted in acute rhabdomyolysis. CYP2C8 and CYP3A4 are the major enzymes responsible for the metabolism of cerivastatin, and a transporter, OATP2, contributes to uptake of cerivastatin to the liver. In this study, the patient's DNA was sequenced i...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0188-6

    authors： Ishikawa C,Ozaki H,Nakajima T,Ishii T,Kanai S,Anjo S,Shirai K,Inoue I

    更新日期：2004-01-01 00:00:00

  • A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome.

    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

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0193-9

    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

  • Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women.

    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

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0024-4

    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

  • Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

    abstract：:Lafora disease (LD) is a rare autosomal recessive genetic disorder characterized by epilepsy, myoclonus, and progressive neurological deterioration. LD is caused by mutations in the EMP2A gene encoding a protein phosphatase. A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0263-7

    authors： Singh S,Suzuki T,Uchiyama A,Kumada S,Moriyama N,Hirose S,Takahashi Y,Sugie H,Mizoguchi K,Inoue Y,Kimura K,Sawaishi Y,Yamakawa K,Ganesh S

    更新日期：2005-01-01 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

  • Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.

    abstract：:Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations. Here, we aimed to evaluate the impacts of these novel loci on type 2 diabetes risk in a population-...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.117

    authors： Zhou DZ,Liu Y,Zhang D,Liu SM,Yu L,Yang YF,Zhao T,Chen Z,Kan MY,Zhang ZF,Feng GY,Xu H,He L

    更新日期：2010-12-01 00:00:00

  • Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.

    abstract：:Dihydrotestosterone is crucial for normal development of external genitalia and prostate in the male embryo. Autosomal recessive mutations in the 5 alpha-reductase type 2 (SRD5A2) gene disrupt the synthesis of dihydrotestosterone in the urogenital tract and give rise to genetic males with undervirilized external genit...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0274-2

    authors： Vilchis F,Valdez E,Ramos L,García R,Gómez R,Chávez B

    更新日期：2008-01-01 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

  • Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus.

    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

    pub_type： 杂志文章

    doi：10.1007/s100380050173

    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