当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > INPPL1 gene mutations in opsismodysplasia.

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 area of insulin resistance and obesity but has roles in cancer and other disorders. Recently, it was reported that mutations in INPPL1 cause opsismodysplasia, a rare, autosomal recessive severe skeletal dysplasia. This review focuses on the mutations associated with opsismodysplasia and explores the role of INPPL1/ SHIP2 in skeletal development.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Fradet A,Fitzgerald J

doi

10.1038/jhg.2016.119

subject

Has Abstract

pub_date

2017-02-01 00:00:00

pages

135-140

issue

2

eissn

1434-5161

issn

1435-232X

pii

jhg2016119

journal_volume

62

pub_type

杂志文章,评审

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

    abstract：:The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the a...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0415-1

    authors： Minamikawa S,Nozu K,Nozu Y,Yamamura T,Taniguchi-Ikeda M,Nakanishi K,Fujimura J,Horinouchi T,Shima Y,Nakanishi K,Hattori M,Kanda K,Tanaka R,Morisada N,Nagano C,Sakakibara N,Nagase H,Morioka I,Kaito H,Iijima K

    更新日期：2018-05-01 00:00:00

  • A combined linkage and association strategy identifies a variant near the GSTP1 gene associated with BMI in the Mexican population.

    abstract：:Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful appr...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.145

    authors： Villamil-Ramírez H,León-Mimila P,Macias-Kauffer LR,Canizalez-Román A,Villalobos-Comparán M,León-Sicairos N,Vega-Badillo J,Sánchez-Muñoz F,López-Contreras B,Morán-Ramos S,Villarreal-Molina T,Zurita LC,Campos-Pérez F,Huertas-Vazq

    更新日期：2017-03-01 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

  • Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site.

    abstract：:We analyzed the mitochondrial DNA extracted from 14 human skeletal remains from the Doigahama site in Japan to clarify the genetic structure of the Doigahama Yayoi population and the relationship between burial style and kinship among individuals. The sequence types obtained in this study were compared with those of t...

    journal_title：Journal of human genetics

    pub_type： 历史文章,杂志文章

    doi：10.1038/jhg.2009.81

    authors： Igawa K,Manabe Y,Oyamada J,Kitagawa Y,Kato K,Ikematsu K,Nakasono I,Matsushita T,Rokutanda A

    更新日期：2009-10-01 00:00:00

  • Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease.

    abstract：:ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investiga...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0588-2

    authors： Thiha K,Mashimo Y,Suzuki H,Hamada H,Hata A,Hara T,Tanaka T,Ito K,Onouchi Y,Japan Kawasaki Disease Genome Consortium.

    更新日期：2019-06-01 00:00:00

  • Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

    abstract：:22q11.2 duplication syndrome has recently been established as a new syndrome manifesting broad clinical phenotypes including mental retardation. It is reciprocal to DiGeorge (DGS)/velo-cardio-facial syndrome (VCFS), in which the same portion of the chromosome is hemizygously deleted. Deletions and duplications of the ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.100

    authors： Shimojima K,Okamoto N,Inazu T,Yamamoto T

    更新日期：2011-11-01 00:00:00

  • HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease.

    abstract：:Graves' disease (GD) is an autoimmune disease characterized by hyperthyroidism due to the presence of autoantibodies against thyroid-stimulating hormone receptor, which is measured as thyroid-stimulating hormone-binding inhibitory immunoglobulin (TBII). Most of the GD patients are TBII-positive, but TBII is undetectab...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.20

    authors： Takahashi M,Kimura A

    更新日期：2010-05-01 00:00:00

  • Human calcitonin receptor-like receptor for adrenomedullin: genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis.

    abstract：:Adrenomedullin (ADM), a peptide characterized by persistent hypotensive activity, is thought to be involved when the control mechanism of blood pressure is deranged, because its plasma concentration is upregulated in hypertensive patients. The receptor for ADM, a molecular complex consisting of calcitonin-receptor-lik...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170100

    authors： Nakazawa I,Nakajima T,Harada H,Ishigami T,Umemura S,Emi M

    更新日期：2001-01-01 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

  • Human aryl hydrocarbon receptor nuclear translocator gene (ARNT) D/N511 polymorphism.

    abstract：:We found a novel A-->C change in codon 511 of the ARNT gene, which predicted the substitution of Asn (AAC) for Asp (GAC) at this position. Amplification using mismatched primers allowed the ARNT D/N511 polymorphism to be detected by digestion with endonuclease Tth111I. The frequency of the ARNT N511 allele was 0.019 i...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050018

    authors： Cao H,Hegele RA

    更新日期：2000-01-01 00:00:00

  • A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach.

    abstract：:Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0301-5

    authors： Johnson MP,Griffiths LR

    更新日期：2005-01-01 00:00:00

  • The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions.

    abstract：:The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0302-2

    authors： Liu Y,Ordovas JM,Gao G,Province M,Straka RJ,Tsai MY,Lai CQ,Zhang K,Borecki I,Hixson JE,Allison DB,Arnett DK

    更新日期：2008-01-01 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

    doi：10.1038/jhg.2010.4

    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

  • 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

    doi：10.1007/s100380170116

    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

  • Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity.

    abstract：:This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050184

    authors： Scrimshaw BJ,Faed JM,Tate WP,Yun K

    更新日期：1999-01-01 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

  • 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

  • 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

  • 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

  • Entropy-based joint analysis for two-stage genome-wide association studies.

    abstract：:Genome-wide association studies (GWAS) are being conducted to identify common genetic variants that predispose to human diseases to unravel the genetic etiology of complex human diseases now. Because of genotyping cost constraints, it often follows a two-stage design, in which a large number of markers are identified ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0177-7

    authors： Kang G,Zuo Y

    更新日期：2007-01-01 00:00:00

  • Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias.

    abstract：:We hypothesized that single-nucleotide polymorphisms (SNPs) of genes involved in environmental endocrine disruptors (EEDs) metabolism might influence the risk of male genital malformations. In this study, we explored for association between 384 SNPs in 15 genes (AHR, AHRR, ARNT, ARNT2, NR1I2, RXRA, RXRB, RXRG, CYP1A1,...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.48

    authors： Qin XY,Kojima Y,Mizuno K,Ueoka K,Massart F,Spinelli C,Zaha H,Okura M,Yoshinaga J,Yonemoto J,Kohri K,Hayashi Y,Ogata T,Sone H

    更新日期：2012-07-01 00:00:00

  • Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP).

    abstract：:We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200072

    authors： Cao H,Miskie BA,Hegele RA

    更新日期：2002-01-01 00:00:00

  • Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).

    abstract：:Ectodermal-dysplasia-syndactyly syndrome (EDSS1) is a rare form of ectodermal dysplasia (ED), affecting skin and its appendages mainly hair, teeth and nails. In the present study, we have investigated a large consanguineous Pakistani family with 10 individuals showing features of EDSS1. Human genome was screened using...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.18

    authors： Jelani M,Chishti MS,Ahmad W

    更新日期：2011-05-01 00:00:00

  • De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

    abstract：:The expansion of polyalanine repeats is known to cause at least nine disorders, including congenital central hypoventilation syndrome (CCHS). Unequal crossover has been speculated as the expanding mechanism, in contrast to strand slippage in polyglutamine expansion disorders. We carried out segregation analysis of PHO...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0197-3

    authors： Arai H,Otagiri T,Sasaki A,Hashimoto T,Umetsu K,Tokunaga K,Hayasaka K

    更新日期：2007-01-01 00:00:00

  • The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.

    abstract：:Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal transloca...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0158-z

    authors： Kamimura J,Wakui K,Kadowaki H,Watanabe Y,Miyake K,Harada N,Sakamoto M,Kinoshita A,Yoshiura KI,Ohta T,Kishino T,Ishikawa M,Kasuga M,Fukushima Y,Niikawa N,Matsumoto N

    更新日期：2004-01-01 00:00:00

  • Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.

    abstract：:Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy caused by SH3TC2 mutations, characterized by spine deformities and cranial nerve involvement. This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients...

    journal_title：Journal of human genetics

    pub_type： 临床试验,杂志文章

    doi：10.1038/s10038-019-0636-y

    authors： Lee AJ,Nam SH,Park JM,Kanwal S,Choi YJ,Lee HJ,Lee KS,Lee JE,Park JS,Choi BO,Chung KW

    更新日期：2019-09-01 00:00:00

  • The genomic landscape of human immune-mediated diseases.

    abstract：:As the methodology of genetic detection has developed rapidly in recent years, through techniques such as genome-wide association studies (GWAS) and the secondary generation of sequencing, we are able to view the genomic landscape more clearly. It is well known that genes have a vital role in the pathogenesis of immun...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2015.99

    authors： Wu X,Chen H,Xu H

    更新日期：2015-11-01 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

  • 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

  • Anticipation in Japanese families with schizophrenia.

    abstract：:The identification of anticipation in schizophrenia is a recent focus in the genetic epidemiology of schizophrenia, although it involves some controversial methodological issues. We explored the evidence of anticipation among 44 Japanese two-generation pairs with schizophrenia found by reviewing nine years of admissio...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050076

    authors： Imamura A,Honda S,Nakane Y,Okazaki Y

    更新日期：1998-01-01 00:00:00