Genomic sequence, organization, and chromosomal localization of human JAK3.

abstract：:Linkage of the gene responsible for an X-linked early onset parkinsonism disorder with mental retardation (McKusick 311510) to DNA probes that detect restriction fragment length polymorphisms is described. The disease gene is linked to the F8C gene, and to DNA probes detecting polymorphic loci DXS52, DXS15, DXS134, an...

journal_title：Genomics

authors： Gregg RG,Metzenberg AB,Hogan K,Sekhon G,Laxova R

更新日期：1991-04-01 00:00:00

abstract：:Inborn errors of mitochondrial beta-oxidation cause ectopic fat accumulation, particularly in the liver. Fatty liver is associated with insulin resistance and predisposes to hepatic fibrosis. The factors underlying the pathophysiological consequences of hepatic fat accumulation have remained poorly defined. Gene expre...

journal_title：Genomics

authors： van der Leij FR,Bloks VW,Grefhorst A,Hoekstra J,Gerding A,Kooi K,Gerbens F,te Meerman G,Kuipers F

更新日期：2007-12-01 00:00:00

abstract：:GPC3, the gene modified in the Simpson-Golabi-Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5' of the translational start site. The Xq26.1 region containing GPC3 as the only known gene has been extended to > 900 kb by sequence a...

journal_title：Genomics

authors： Huber R,Crisponi L,Mazzarella R,Chen CN,Su Y,Shizuya H,Chen EY,Cao A,Pilia G

更新日期：1997-10-01 00:00:00

abstract：:The sensing of extracellular calcium is a general paradigm for regulating diverse cellular functions in many tissues. A calcium-sensing receptor (Casr) belonging to the metabotropic glutamate family of G-protein-coupled receptors (GPCR) that transduces the effects of extracellular calcium in the parathyroid gland as w...

journal_title：Genomics

authors： Hinson TK,Damodaran TV,Chen J,Zhang X,Qumsiyeh MB,Seldin MF,Quarles LD

更新日期：1997-10-15 00:00:00

abstract：:Erythrocyte surface protein band 3 (EPB3) plays an important role in CO2 transport in the blood. We have isolated a recombinant lambda bacteriophage that contains coding sequence for the human gene. Sequence analysis demonstrated that the human insert contains a portion of exon 13. A 1.1-kb BamHI fragment revealed a t...

journal_title：Genomics

authors： Stewart EA,Kopito R,Bowcock AM

更新日期：1989-10-01 00:00:00

abstract：:Talin is a high-molecular-weight cytoskeletal protein, localized at cell-extracellular matrix associations known as focal contacts. In these regions, talin is thought to link integrin receptors to the actin cytoskeleton. Talin plays a key role in the assembly of actin filaments and in spreading and migration of variou...

journal_title：Genomics

authors： Ben-Yosef T,Francomano CA

更新日期：1999-12-01 00:00:00

abstract：:Hereditary congenital facial paresis (HCFP) belongs to the family of congenital cranial dysinnervation disorders and is characterized by an isolated dysfunction of the facial nerve (nVII). While genetic defects have been identified for several members of this disease family, genes underlying congenital facial paresis ...

journal_title：Genomics

authors： van der Zwaag B,Burbach JP,Scharfe C,Oefner PJ,Brunner HG,Padberg GW,van Bokhoven H

更新日期：2005-07-01 00:00:00

abstract：:Genes homologous to those located on human chromosome 4 (HSA4) were mapped in the bovine to determine regions of syntenic conservation among humans, mice, and cattle. Previous studies have shown that two homologs of genes on HSA4, PGM2 and PEPS, are located in bovine syntenic group U15 (chromosome 6). The homologous m...

journal_title：Genomics

authors： Zhang N,Threadgill DW,Womack JE

更新日期：1992-09-01 00:00:00

abstract：:The WD-repeat protein family consists of a large group of structurally related yet functionally diverse proteins found predominantly in eukaryotic cells. These factors contain several (4-16) copies of a recognizable amino-acid sequence motif (the WD unit) thought to be organized into a "propeller-like" structure invol...

journal_title：Genomics

authors： Nal B,Mohr E,Silva MI,Tagett R,Navarro C,Carroll P,Depetris D,Verthuy C,Jordan BR,Ferrier P

更新日期：2002-01-01 00:00:00

abstract：:The major component of the vascular and plaque amyloid deposits in Alzheimer disease is the amyloid beta peptide (A beta). A second intrinsic component of amyloid, the NAC (non-A beta component of amyloid) peptide, has recently been identified, and its precursor protein was named NACP. A computer homology search allow...

journal_title：Genomics

authors： Campion D,Martin C,Heilig R,Charbonnier F,Moreau V,Flaman JM,Petit JL,Hannequin D,Brice A,Frebourg T

更新日期：1995-03-20 00:00:00

abstract：:We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus and recently, demonstrated the presence of high heterogeneity in functional 5S rRNA. In this paper, we show some important distinctive data on 5S rRNA transcription for t...

journal_title：Genomics

authors： Bellavia D,Dimarco E,Naselli F,Caradonna F

更新日期：2013-10-01 00:00:00

abstract：:The transcriptional organization of the region of the mouse X chromosome between the G6pd and the Fln1 genes was studied in detail, and it was compared with the syntenic region of the human chromosome. A cosmid contig of 250 kb was constructed by screening mouse cosmid libraries with probes for human genes and with wh...

journal_title：Genomics

authors： Rivella S,Tamanini F,Bione S,Mancini M,Herman G,Chatterjee A,Maestrini E,Toniolo D

更新日期：1995-08-10 00:00:00

abstract：:The alpha-fetoprotein (AFP) gene is transcribed at high levels in the fetal liver and is repressed at birth, leading to low but detectable levels of AFP mRNA in the adult liver. This repression is regulated, in part, by a locus that is unlinked to AFP called Alpha-fetoprotein regulator 1 (Afr1). Previous studies showe...

journal_title：Genomics

authors： Peyton DK,Huang MC,Giglia MA,Hughes NK,Spear BT

更新日期：2000-01-15 00:00:00

abstract：:8-Oxo-dGTP (8-oxo-7,8-dihydrodeoxyguanosine triphosphate) is produced by active oxygen species in the nucleotide pool of the cell and can be incorporated into cellular DNA. Human cells contain enzyme activity that hydrolyzes 8-oxo-dGTP to 8-oxo-dGMP, thereby preventing occurrence of mutations, caused by misincorporati...

journal_title：Genomics

authors： Furuichi M,Yoshida MC,Oda H,Tajiri T,Nakabeppu Y,Tsuzuki T,Sekiguchi M

更新日期：1994-12-01 00:00:00

abstract：:Through its three operating programs, the Howard Hughes Medical Institute has supported a substantial amount of basic and clinical molecular research, has acted as a facilitator in initiating and funding a number of meetings, nationally and internationally, including work groups dealing with databases, and has support...

journal_title：Genomics

authors： Cahill GF,Hinton DR

更新日期：1989-11-01 00:00:00

abstract：:Hes2 encodes a mammalian basic helix-loop-helix transcriptional repressor homologous to the products of Drosophila hairy and Enhancer of split. Here, we isolated and characterized the mouse Hes2 gene. This gene consists of four exons, and all the introns are located within the protein-coding region at positions homolo...

journal_title：Genomics

authors： Nishimura M,Isaka F,Ishibashi M,Tomita K,Tsuda H,Nakanishi S,Kageyama R

更新日期：1998-04-01 00:00:00

abstract：:There is abundant evidence that the DNA in eukaryotic cells is organized into loop domains that represent basic structural and functional units of chromatin packaging. To explore the DNA domain organization of the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1, we have identified a significant...

journal_title：Genomics

authors： Shaposhnikov SA,Akopov SB,Chernov IP,Thomsen PD,Joergensen C,Collins AR,Frengen E,Nikolaev LG

更新日期：2007-03-01 00:00:00

abstract：:Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemi...

journal_title：Genomics

authors： Osborne LR,Martindale D,Scherer SW,Shi XM,Huizenga J,Heng HH,Costa T,Pober B,Lew L,Brinkman J,Rommens J,Koop B,Tsui LC

更新日期：1996-09-01 00:00:00

abstract：:The alpha 1 subunit genes encoding voltage-dependent Ca2+ channels are members of a gene family. We have used human brain cDNA probes to localize the neuronal isoform genes CACNL1A4 (alpha 1A), CACNL1A5 (alpha 1B), and CACNL1A6 (alpha 1E) to 19p13, 9q34, and 1q25-q31, respectively, using fluorescence in situ hybridiza...

journal_title：Genomics

authors： Diriong S,Lory P,Williams ME,Ellis SB,Harpold MM,Taviaux S

更新日期：1995-12-10 00:00:00

abstract：:The single functional mouse gene for MIF (macrophage migration inhibitory factor) has been cloned from a P1 library, and its exon/intron structure determined and shown to resemble that of the human gene. The gene was mapped to chromosome 10 using two multilocus crosses between laboratory strains and either Mus musculu...

journal_title：Genomics

authors： Kozak CA,Adamson MC,Buckler CE,Segovia L,Paralkar V,Wistow G

更新日期：1995-06-10 00:00:00

abstract：:The major histocompatibility complex (MHC) class I region has been shown to be associated with a variety of immune and nonimmune disorders. In an effort to initiate steps designed to identify the idiopathic hemochromatosis disease gene (HFE), we have cloned and mapped two expressed messages using probes from the HLA-H...

journal_title：Genomics

authors： Venditti CP,Harris JM,Geraghty DE,Chorney MJ

更新日期：1994-07-15 00:00:00

abstract：:The key regulatory elements for PKD2 transcription remain unclear. To identify these core elements, we characterized porcine PKD2 promoter with bioinformatics and molecular tools and found porcine PKD2 promoter bearing typical features of enriched CpG and less TATA. Further studies demonstrated that the core region wa...

journal_title：Genomics

authors： Wang Q,Han G,Ye J,Gao X,Niu H,Zhao J,Chai Y,Li N,Yin H

更新日期：2014-12-01 00:00:00

abstract：:The human genome harbors thousands of long terminal repeats (LTRs) that are derived from endogenous retroviruses and contain elements able to regulate the expression of neighboring cellular genes. We have investigated the ability of human endogenous retroviral (HERV)-K LTRs to provide transcriptional processing signal...

journal_title：Genomics

authors： Baust C,Seifarth W,Germaier H,Hehlmann R,Leib-Mösch C

更新日期：2000-05-15 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing X-linked recessive dyskeratosis congenita (DKC) and a more severe allelic variant of the disease, Hoyeraal-Hreidarsson syndrome. Both diseases are characterized by progressive and fatal bone marrow failure. The nucleolar protein dyskerin is the pseudouridine synth...

journal_title：Genomics

authors： Heiss NS,Bächner D,Salowsky R,Kolb A,Kioschis P,Poustka A

更新日期：2000-07-15 00:00:00

abstract：:In line 4 transgenic mice, six to eight copies of a 50-kb lambda recombinant clone are arranged in a head-to-tail tandem array on chromosome 3. Embryos homozygous for the transgene become arrested in their development on Day 5 of gestation shortly after implantation. The insertion site was cloned using a small segment...

journal_title：Genomics

authors： Mark WH,Signorelli K,Blum M,Kwee L,Lacy E

更新日期：1992-05-01 00:00:00

abstract：:Differences in the methylation status of certain cytosine residues between active and inactive X chromosomes can be used to determine X-inactivation in females heterozygous for X-linked restriction fragment length polymorphisms. We have studied methylation patterns in 105 females heterozygous at the DXS255 locus by So...

journal_title：Genomics

authors： Cachia PG,Culligan DJ,Thomas ED,Whittaker J,Jacobs A,Padua RA

更新日期：1992-09-01 00:00:00

abstract：:We recently reported the identification of a mouse cDNA encoding a new p53-associating protein that we called Mdmx because of its structural similarity to Mdm2, a well-known p53-binding protein. Here we report the isolation of a cDNA encoding the human homolog of Mdmx. The ORF of the cDNA encodes a protein of 490 amin...

journal_title：Genomics

authors： Shvarts A,Bazuine M,Dekker P,Ramos YF,Steegenga WT,Merckx G,van Ham RC,van der Houven van Oordt W,van der Eb AJ,Jochemsen AG

更新日期：1997-07-01 00:00:00

abstract：:Central to reconstruction of cis-regulatory networks is identification and classification of naturally occurring transcription factor-binding sites according to the genes that they control. We have examined salient characteristics of 9-mers that occur in various orders and combinations in the proximal promoters of hum...

journal_title：Genomics

authors： Bina M,Wyss P,Ren W,Szpankowski W,Thomas E,Randhawa R,Reddy S,John PM,Pares-Matos EI,Stein A,Xu H,Lazarus SA

更新日期：2004-12-01 00:00:00

abstract：:The Long-Evans Cinnamon (LEC) rat has a spontaneous mutation, T helper immunodeficiency (thid), which causes a markedly reduced CD4(+) thymocyte population. Here we positionally clone the locus and identify a deletion in the gene encoding a receptor-like protein tyrosine phosphatase kappa (Ptprk) that led to complete ...

journal_title：Genomics

authors： Kose H,Sakai T,Tsukumo S,Wei K,Yamada T,Yasutomo K,Matsumoto K

更新日期：2007-06-01 00:00:00

abstract：:p26, a small heat shock protein, is thought to protect Artemia embryos from stress during encystment and diapause. Full-length p26 cDNAs were compared and used to determine phylogenetic relationships between several Artemia species. The alpha-crystallin domain of p26 was the most conserved region of the protein and p2...

journal_title：Genomics

authors： Qiu Z,Bossier P,Wang X,Bojikova-Fournier S,MacRae TH

更新日期：2006-08-01 00:00:00