Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit.

abstract：:We have identified a migraine locus on chromosome 19p13.3/2 using linkage and association analysis. We isolated 48 single-nucleotide polymorphisms within the locus, of which we genotyped 24 in a Caucasian population comprising 827 unrelated cases and 765 controls. Five single-nucleotide polymorphisms within the insuli...

journal_title：Genomics

authors： McCarthy LC,Hosford DA,Riley JH,Bird MI,White NJ,Hewett DR,Peroutka SJ,Griffiths LR,Boyd PR,Lea RA,Bhatti SM,Hosking LK,Hood CM,Jones KW,Handley AR,Rallan R,Lewis KF,Yeo AJ,Williams PM,Priest RC,Khan P,Donnelly

更新日期：2001-12-01 00:00:00

abstract：:In this study, we systematically screened the polymorphisms of the whole CYP2D6 gene in the populations of four different geographical locations in China, namely, Shanghai, Shantou, Shenyang, and Xi'an, using a sample of 100 subjects from each population. Forty-eight different polymorphisms were detected as well as 12...

journal_title：Genomics

authors： Qin S,Shen L,Zhang A,Xie J,Shen W,Chen L,Tang J,Xiong Y,Yang L,Shi Y,Feng G,He L,Xing Q

更新日期：2008-09-01 00:00:00

abstract：:The molecular characterization of two patients with features of Beckwith-Wiedemann syndrome (BWS) and chromosome abnormalities is consistent with the association of this phenotype with a duplication of a portion of chromosome 11. Quantitative Southern blot analysis of DNA from patient A defines a large inherited dupli...

journal_title：Genomics

authors： Weksberg R,Glaves M,Teshima I,Waziri M,Patil S,Williams BR

更新日期：1990-12-01 00:00:00

abstract：:DNA 5' to the human myelin basic protein (MBP) gene, mapped to 18q22----qter, is known to manifest multiallelic DNA length variation with heterozygosity of at least 45%. Isolation of genomic DNA containing the MBP gene first exon and its 5' flanking region reveals that this polymorphism arises from a 994-bp region of ...

journal_title：Genomics

authors： Boylan KB,Ayres TM,Popko B,Takahashi N,Hood LE,Prusiner SB

更新日期：1990-01-01 00:00:00

abstract：:The EF-hand superfamily of calcium binding proteins includes the S100, calcium binding protein, and troponin subfamilies. This study represents a genome, structure, and expression analysis of the S100 protein family, in mouse, human, and rat. We confirm the high level of conservation between mammalian sequences but sh...

journal_title：Genomics

authors： Ravasi T,Hsu K,Goyette J,Schroder K,Yang Z,Rahimi F,Miranda LP,Alewood PF,Hume DA,Geczy C

更新日期：2004-07-01 00:00:00

abstract：:The genes encoding receptors for the chemotactic ligands C5a (C5AR) and FMLP (FPR) were mapped using a panel of somatic cell hybrids to chromosome 19. Because the hybridization pattern on Southern analysis suggested an intron structure or related genes in the case of FPR, genomic clones were characterized. Two structu...

journal_title：Genomics

authors： Bao L,Gerard NP,Eddy RL Jr,Shows TB,Gerard C

更新日期：1992-06-01 00:00:00

abstract：:Proteins of the DUF1313 family contain a highly conserved domain and are only found in plants; they play important roles in most plant functions. In this study, 269 DUF1313 genes from 81 photoautotrophic species were identified; they were classified into three major types based on the amino acid substitutions in the c...

journal_title：Genomics

authors： Li J,Hu E,Chen X,Xu J,Lan H,Li C,Hu Y,Lu Y

更新日期：2016-05-01 00:00:00

abstract：:Multiple inositol polyphosphate phosphatase is the only enzyme known to hydrolyze the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate. We have previously demonstrated that the chick homolog of multiple inositol polyphosphate phosphatase, designated HiPER1, has a role in growth plate chond...

journal_title：Genomics

authors： Chi H,Tiller GE,Dasouki MJ,Romano PR,Wang J,O'keefe RJ,Puzas JE,Rosier RN,Reynolds PR

更新日期：1999-03-15 00:00:00

abstract：:Lymphocyte antigen-6 (LY-6) superfamily members are cysteine-rich, generally GPI-anchored cell surface proteins, which have definite or putative immune related roles. A cluster of five potential LY-6 superfamily members is located in the human and mouse major histocompatibility complex class III region. Comparative an...

journal_title：Genomics

authors： Mallya M,Campbell RD,Aguado B

更新日期：2002-07-01 00:00:00

abstract：:The NFAR gene (nuclear factor associated with dsRNA) encodes a putative transcription-associated factor that we have shown is a substrate for the interferon-inducible, dsRNA-dependent protein kinase, PKR. However, our protein expression analysis has revealed that NFAR exists as two major protein species of 90 kDa (NFA...

journal_title：Genomics

authors： Saunders LR,Jurecic V,Barber GN

更新日期：2001-01-15 00:00:00

abstract：:A computational and in silico system level framework was developed to identify and prioritize the antibacterial drug targets in Clostridium botulinum (Clb), the causative agent of flaccid paralysis in humans that can be fatal in 5 to 10% of cases. This disease is difficult to control due to the emergence of drug-resis...

journal_title：Genomics

authors： Muhammad SA,Ahmed S,Ali A,Huang H,Wu X,Yang XF,Naz A,Chen J

更新日期：2014-07-01 00:00:00

abstract：:Myeloproliferative disorders frequently show deletions or rearrangements of the long arm of chromosome 13. We report here the cloning of RNF6, a new gene that maps close to the chromosome 13 breakpoint in a case of myelofibrosis with a t(4;13)(q26;q12). RNF6 is predicted to encode a 685-amino-acid protein with a coile...

journal_title：Genomics

authors： Macdonald DH,Lahiri D,Sampath A,Chase A,Sohal J,Cross NC

更新日期：1999-05-15 00:00:00

abstract：:The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events establish MAP1B as ...

journal_title：Genomics

authors： Brzustowicz LM,Kleyn PW,Boyce FM,Lien LL,Monaco AP,Penchaszadeh GK,Das K,Wang CH,Munsat TL,Ott J

更新日期：1992-08-01 00:00:00

abstract：:Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a...

journal_title：Genomics

authors： Heus HC,Hing A,van Baren MJ,Joosse M,Breedveld GJ,Wang JC,Burgess A,Donnis-Keller H,Berglund C,Zguricas J,Scherer SW,Rommens JM,Oostra BA,Heutink P

更新日期：1999-05-01 00:00:00

abstract：:The primary structure of the human microsomal glutathione S-transferase gene (GST12) was determined by genomic cloning. The gene structure of GST12 spans 12.8 kb and consists of four exons and three introns. The coding sequence resides on exons 2, 3, and 4. Sequencing of the exons revealed two nucleotide differences c...

journal_title：Genomics

authors： Kelner MJ,Stokely MN,Stovall NE,Montoya MA

更新日期：1996-08-15 00:00:00

abstract：:We report for the first time the fragmented mitochondrial (mt) genomes of two Pedicinus species: Pedicinus obtusus and Pedicinus badii, and compared them with the lice of humans and chimpanzees. Despite being congeneric, the two monkey lice are distinct from each other in mt karyotype. The variation in mt karyotype be...

journal_title：Genomics

authors： Fu YT,Dong Y,Wang W,Nie Y,Liu GH,Shao R

更新日期：2020-11-01 00:00:00

abstract：:Guard hair and cashmere undercoat are developed from primary and secondary hair follicle, respectively. Little is known about the gene expression differences between primary and secondary hair follicle cycling. In this study, we obtained RNA-seq data from cashmere and milk goats grown at four different seasons. We stu...

journal_title：Genomics

authors： Zhang Y,Wu K,Wang L,Wang Z,Han W,Chen D,Wei Y,Su R,Wang R,Liu Z,Zhao Y,Wang Z,Zhan L,Zhang Y,Li J

更新日期：2020-01-01 00:00:00

abstract：:Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome. Marfan syndrome has a variable phenotype, even within families carrying the same FBN1 mutation. Differences in gene expression resulting from sequence differences in the ...

journal_title：Genomics

authors： Summers KM,Bokil NJ,Baisden JM,West MJ,Sweet MJ,Raggatt LJ,Hume DA

更新日期：2009-10-01 00:00:00

abstract：:Use of mixed models is in the spotlight as an emerging method for genome-wide association studies (GWASs). This study investigated the statistical power for identifying nucleotide variants associated with quantitative traits using the mixed model methodology. Quantitative traits were simulated through design of herita...

journal_title：Genomics

authors： Shin J,Lee C

更新日期：2015-01-01 00:00:00

abstract：:An arrayed library of human heterogeneous nuclear complementary (hnc) DNA was constructed from a somatic cell hybrid (M28) containing an i(12p) marker as the sole human chromosome. Heterogeneous nuclear (hn) RNA of M28 was used to synthesize first-strand hncDNA with a primer (RT) containing a random hexanucleotide at ...

journal_title：Genomics

authors： Baens M,Chaffanet M,Cassiman JJ,van den Berghe H,Marynen P

更新日期：1993-04-01 00:00:00

abstract：:Neuroendocrine-Dlg (NE-Dlg) is a member of the discs-large-related (DLG) subfamily of the membrane-associated guanylate kinase-related protein family. Based on evidence from model systems, this protein appears to be critical for synaptogenesis, acting as a site-specific organizational center for integral membrane prot...

journal_title：Genomics

authors： Stathakis DG,Lee D,Bryant PJ

更新日期：1998-04-15 00:00:00

abstract：:Grapsoidea and Ocypodoidea, two of the most abundant and economically important groups in Brachyura, are of great commercial value to fisheries and aquaculture. However, the taxonomy of Ocypodoidea and Grapsoidea has long been highly disputed. Previous studies have investigated this problem through phylogenetic analys...

journal_title：Genomics

authors： Wang Q,Tang D,Guo H,Wang J,Xu X,Wang Z

更新日期：2020-01-01 00:00:00

abstract：:In extracellular fluids the insulin-like growth factors (IGFs) are bound to specific binding proteins (IGBPs). The genes for two members of this protein family have been mapped, the IGBP1 gene to human chromosomal region 7p14-p12 and the IGBP2 gene to region 2q33-q34. In this study, somatic cell hybrid analysis indica...

journal_title：Genomics

authors： Ehrenborg E,Larsson C,Stern I,Janson M,Powell DR,Luthman H

更新日期：1992-03-01 00:00:00

abstract：:A systematic workflow consisting of comparative genomics, metabolic pathways analysis and additional drug prioritization parameters identified 264 proteins of Vibrio cholerae which were predicted to be absent in Homo sapiens. Among these, 40 proteins were identified as essential proteins that could serve as potential ...

journal_title：Genomics

authors： Chawley P,Samal HB,Prava J,Suar M,Mahapatra RK

更新日期：2014-01-01 00:00:00

abstract：:The human homeobox gene HLX1 appears to be involved in hemopoietic development and may represent a candidate gene for various developmental or hemopoietic disorders. We have isolated genomic clones for the gene, determined its intron-exon organization, and confirmed its map location on chromosome 1q41-q42. The transcr...

journal_title：Genomics

authors： Kennedy MA,Rayner JC,Morris CM

更新日期：1994-07-15 00:00:00

abstract：:The gene responsible for the second form of autosomal dominant polycystic kidney disease, PKD2, has recently been identified. We now describe the cloning, genomic localization, cDNA sequence, and expression analysis of its murine homologue, Pkd2. The cloned cDNA sequence is 5134 bp long and is predicted to encode a 96...

journal_title：Genomics

authors： Wu G,Mochizuki T,Le TC,Cai Y,Hayashi T,Reynolds DM,Somlo S

更新日期：1997-10-01 00:00:00

abstract：:One of the important goals in systems biology is to infer transcription network based on gene expression data. Validation of the reconstructed network often requires benchmark datasets, e.g. gene expression data, which are usually unattainable. Synthetic datasets are therefore often needed to test the structure learni...

journal_title：Genomics

authors： Li Y,Zhu Y,Bai X,Cai H,Ji W,Guo D

更新日期：2009-11-01 00:00:00

abstract：:Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions...

journal_title：Genomics

authors： Monaco AP,Bertelson CJ,Liechti-Gallati S,Moser H,Kunkel LM

更新日期：1988-01-01 00:00:00

abstract：:Acid sphingomyelinase (ASM; HGMW-approved symbol, SMPD1) is the lysosomal phosphodiesterase that hydrolyzes sphingomyelin to ceramide and phosphocholine. The deficient activity of this enzyme results in Types A and B Niemann-Pick disease (NPD). The full-length cDNA encoding human ASM has been isolated and characterize...

journal_title：Genomics

authors： Schuchman EH,Levran O,Pereira LV,Desnick RJ

更新日期：1992-02-01 00:00:00

abstract：:Rhodopsin kinase (RK) is a conserved component of the light adaptation and recovery pathways shared among rod and cone photoreceptors of a variety of species. To gain insight into transcriptional mechanisms driving RK and potentially other genes of similar spatial profile, the components and the interactions of the hi...

journal_title：Genomics

authors： Young JE,Kasperek EM,Vogt TM,Lis A,Khani SC

更新日期：2007-08-01 00:00:00