当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Amplification, up-regulation and over-expression of C3G (CRK SH3 domain-binding guanine nucleotide-releasing factor) in non-small cell lung cancers.

Amplification, up-regulation and over-expression of C3G (CRK SH3 domain-binding guanine nucleotide-releasing factor) in non-small cell lung cancers.

Abstract：

:The Ras-CRK-Rap1 cellular signal-transduction system is regulated by guanine nucleotide exchange factors (GEFs). Transcription of C3G on chromosome 9q34 and a key member of the GEF gene family is activated by the CRK-adaptor protein; the C3G product is a CRK SH3 domain-binding guanine nucleotide-releasing factor. We document here the amplification of C3G in five of 18 primary non-small cell lung cancers examined and its increased expression in 18 of 28 tumors in comparison to corresponding non-cancerous lung tissues. Immunohistochemical staining revealed prominent C3G protein in the cytoplasm of cancer cells, associated with faint staining at the nucleolar membrane, but C3G was not detectable in normal bronchial mucoepithelial cells or in broncholoalveolar cells of the bronchial/bronchiolar ducts or alveoli. These data indicate that amplification and increased expression of the C3G gene may play some role in human lung carcinogenesis through derangement of the CRK-Rap1 signaling pathway.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Hirata T,Nagai H,Koizumi K,Okino K,Harada A,Onda M,Nagahata T,Mikami I,Hirai K,Haraguchi S,Jin E,Kawanami O,Shimizu K,Emi M

doi

10.1007/s10038-004-0148-1

keywords:

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

290-295

issue

6

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-004-0148-1

journal_volume

49

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes.

    abstract：:Although the Japanese population has a rather low genetic diversity, we recently confirmed the presence of two main clusters (the Hondo and Ryukyu clusters) through principal component analysis of genome-wide single-nucleotide polymorphism (SNP) genotypes. Understanding the genetic differences between the two main clu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.26

    authors： Yamaguchi-Kabata Y,Tsunoda T,Kumasaka N,Takahashi A,Hosono N,Kubo M,Nakamura Y,Kamatani N

    更新日期：2012-05-01 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

  • 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

  • Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

    abstract：:Erythropoietic protoporphyria (EPP) is an inherited disorder, caused by a partial deficiency of ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway. The deficiency results in accumulation of protoporphyrin, primarily in erythroid cells, and the major clinical feature is cutaneous photosensitivity. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380300009

    authors： Wiman A,Floderus Y,Harper P

    更新日期：2003-01-01 00:00:00

  • Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.

    abstract：:Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic heari...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.144

    authors： Song MJ,Lee ST,Lee MK,Ji Y,Kim JW,Ki CS

    更新日期：2012-02-01 00:00:00

  • Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

    abstract：:A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.47

    authors： Shi X,Huang MC,Ishii A,Yoshida S,Okada M,Morita K,Nagafuji H,Yasumoto S,Kaneko S,Kojima T,Hirose S

    更新日期：2010-06-01 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

  • APOBEC3H polymorphisms and susceptibility to HIV-1 infection in an Indian population.

    abstract：:Human APOBEC3H (A3H) is a member of APOBEC cytidine deaminase family intensively constraining the HIV-1 replication. A3H is known to be polymorphic with different protein stability and anti-HIV-1 activity in vitro. We recently reported that A3H haplotypes composed of two functional polymorphisms, rs139292 (N15del) and...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.136

    authors： Naruse TK,Sakurai D,Ohtani H,Sharma G,Sharma SK,Vajpayee M,Mehra NK,Kaur G,Kimura A

    更新日期：2016-03-01 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

  • Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H).

    abstract：:Age-related macular degeneration (AMD) is a common cause of visual impairment in the elderly population in developed countries. The etiology of AMD is not completely understood but environmental and genetic factors have been implicated in the disease. Recently it has been documented that variations in the complement f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0120-y

    authors： Shastry BS

    更新日期：2007-01-01 00:00:00

  • A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

    abstract：:Two novel mutations in the gene encoding T-protein, a component of the glycine cleavage system, were identified in a Japanese family with nonketotic hyperglycinemia. The proband had two affected sibs, and enzymatic analysis of the liver sample from the proband revealed the T-protein deficiency. The first mutation, 183...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050055

    authors： Kure S,Shinka T,Sakata Y,Osamu N,Takayanagi M,Tada K,Matsubara Y,Narisawa K

    更新日期：1998-01-01 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

  • Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population.

    abstract：:Genome-wide single nucleotide polymorphism (SNP) association studies recently identified four SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) on chromosome 9p21 that were associated with coronary artery disease (CAD) and myocardial infarction (MI) in Caucasian populations from northern Europe and North America...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0230-6

    authors： Shen GQ,Rao S,Martinelli N,Li L,Olivieri O,Corrocher R,Abdullah KG,Hazen SL,Smith J,Barnard J,Plow EF,Girelli D,Wang QK

    更新日期：2008-01-01 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 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

  • 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

  • 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

    doi：10.1038/jhg.2016.66

    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

  • 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

  • Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan.

    abstract：:Broad-spectrum autism, referred to as pervasive developmental disorder (PDD), may be associated with genetic factors. We examined 241 siblings in 269 Japanese families with affected children. The sibling incidence of PDD was 10.0% whereas the prevalence of PDD in the general population in the same geographic region wa...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0392-7

    authors： Sumi S,Taniai H,Miyachi T,Tanemura M

    更新日期：2006-01-01 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

    doi：10.1038/jhg.2009.122

    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

  • Isolation and radiation hybrid mapping of a highly polymorphic CA repeat sequence at the human nuclear factor kappa-beta subunit 1 (NFKB1) locus.

    abstract：:The transcriptional factor nuclear factor kappa-beta (NFKB) consists of a multicomponent protein complex that plays a major role in the regulation of many viral and cellular genes. The NFKB complex has two alternative DNA binding subunits. We isolated a polymorphic dinucleotide (CA) repeat sequence from a genomic clon...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050125

    authors： Ota N,Nakajima T,Shirai Y,Emi M

    更新日期：1999-01-01 00:00:00

  • The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension.

    abstract：:Dyslipidemia and insulin resistance contribute to the endothelial cell dysfunction in hypertensive disorders of pregnancy (HDP) and increase the long-term risk of cardiovascular disease (CVD). The genes linking susceptibility to gestational hypertension (GH) and/or preeclampsia (PE) to the long-term risk of CVD are st...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0106-1

    authors： Bernard N,Girouard J,Forest JC,Giguère Y

    更新日期：2007-01-01 00:00:00

  • Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population.

    abstract：:Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.34

    authors： Alex L,Chahil JK,Lye SH,Bagali P,Ler LW

    更新日期：2012-06-01 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

  • 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

  • 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

  • In vivo genome editing via the HITI method as a tool for gene therapy.

    abstract：:Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/s10038-017-0352-4

    authors： Suzuki K,Izpisua Belmonte JC

    更新日期：2018-02-01 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

  • Mutation identification and characterization of a Taiwanese patient with fucosidosis.

    abstract：:Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0136-3

    authors： Lin SP,Chang JH,de la Cadena MP,Chang TF,Lee-Chen GJ

    更新日期：2007-01-01 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