Quantitative analysis of wobble splicing indicates that it is not tissue specific.

abstract：:Familial dysplastic nevus syndrome (DNS) is an autosomal dominant premalignant condition characterized by multiple large moles of variable size and color and a strongly increased risk for cutaneous malignant melanoma. In order to determine the chromosomal localization of the DNS gene, linkage studies were initiated in...

journal_title：Genomics

authors： van Haeringen A,Bergman W,Nelen MR,van der Kooij-Meijs E,Hendrikse I,Wijnen JT,Khan PM,Klasen EC,Frants RR

更新日期：1989-07-01 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：:Differentiation of Wharton's Jelly-Mesenchymal Stem cells (WJ-MSCs) into cardiomyocytes (CMs) in vitro has been reported widely although contradictions remain regarding the maturation of differentiated MSCs into fully functioning CMs. Studies suggest that use of epigenetic modifiers like 5'Azacytidine (5-AC) in MSCs d...

journal_title：Genomics

authors： Govarthanan K,Gupta PK,Ramasamy D,Kumar P,Mahadevan S,Verma RS

更新日期：2020-03-01 00:00:00

abstract：:Authentic cDNAs encoding the activator protein for acid beta-glucosidase (EC3.2.1.45), co-beta-glucosidase, were cloned from the pCD and lambda gt11 human cDNA libraries. Initial screening with oligonucleotide mixtures encoding amino acid sequences of co-beta-glucosidase identified partial cDNAs which were used to obt...

journal_title：Genomics

authors： Rorman EG,Grabowski GA

更新日期：1989-10-01 00:00:00

abstract：:The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...

journal_title：Genomics

authors： Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JL

更新日期：2000-11-15 00:00:00

abstract：:Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that...

journal_title：Genomics

authors： Spitz F,Montavon T,Monso-Hinard C,Morris M,Ventruto ML,Antonarakis S,Ventruto V,Duboule D

更新日期：2002-04-01 00:00:00

abstract：:Glutaredoxin is a small protein (12 kDa) catalyzing glutathione-dependent disulfide oxidoreduction reactions in a coupled system with NADPH, GSH, and glutathione reductase. A cDNA encoding the human glutaredoxin gene (HGMW-approved symbol GLRX) has recently been isolated and cloned from a human fetal spleen cDNA libra...

journal_title：Genomics

authors： Padilla CA,Bajalica S,Lagercrantz J,Holmgren A

更新日期：1996-03-15 00:00:00

abstract：:A cDNA encoding the human GABAA receptor beta 3 subunit has been isolated from a brain cDNA library and its nucleotide sequence has been determined. This gene, GABRB3, has recently been mapped to human chromosome 15q11q13, the region deleted in Angelman and Prader-Willi syndromes. The association of distinct phenotype...

journal_title：Genomics

authors： Wagstaff J,Chaillet JR,Lalande M

更新日期：1991-12-01 00:00:00

abstract：:Pigeonpea is the main protein source for more than one billion people, and it shows a strong adaptation to biotic stress and abiotic stress. Gene duplication is a fundamental process in genome evolution. Although the draft sequence of the pigeonpea genome has been available since 2011, further analysis of tandem dupli...

journal_title：Genomics

authors： Liu C,Wu Y,Liu Y,Yang L,Dong R,Jiang L,Liu P,Liu G,Wang Z,Luo L

更新日期：2020-10-11 00:00:00

abstract：:Using the human/hamster cell line UCTP2A-3, we have generated and isolated three hybrids, each containing a novel human chromosome 3p break. All chromosome 3 materials distal to the breaks were lost. Two of the breakpoints were produced using aphidicolin induction; the third breakpoint occurred spontaneously. The aphi...

journal_title：Genomics

authors： Wang ND,Testa JR,Smith DI

更新日期：1992-12-01 00:00:00

abstract：:The olfactory receptor (OR) multigene family is widely distributed in the human genome. We characterize here a new cluster of four OR genes (HGMW-approved symbols OR7E20P, OR7E6P, OR7E21P, and OR7E22P) on human chromosome 3p13 that is contained in an approximately 250-kb region. This region has been physically mapped,...

journal_title：Genomics

authors： Brand-Arpon V,Rouquier S,Massa H,de Jong PJ,Ferraz C,Ioannou PA,Demaille JG,Trask BJ,Giorgi D

更新日期：1999-02-15 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：:The molecular mechanism involved in BmNPV resistance was investigated using a genome wide microarray in midgut tissue of Indian silkworm Bombyx mori. In resistant race (Sarupat), 735 genes up-regulated and 589 genes down-regulated at 12 h post BmNPV infection. Similarly, in case of susceptible race (CSR-2), 2183 genes...

journal_title：Genomics

authors： Lekha G,Gupta T,Awasthi AK,Murthy GN,Trivedy K,Ponnuvel KM

更新日期：2015-12-01 00:00:00

abstract：:We investigated the genome-wide distribution of CNVs in the Alzheimer's disease (AD) Neuroimaging Initiative (ADNI) sample (146 with AD, 313 with Mild Cognitive Impairment (MCI), and 181 controls). Comparison of single CNVs between cases (MCI and AD) and controls shows overrepresentation of large heterozygous deletion...

journal_title：Genomics

authors： Guffanti G,Torri F,Rasmussen J,Clark AP,Lakatos A,Turner JA,Fallon JH,Saykin AJ,Weiner M,ADNI the Alzheimer's Disease Neuroimaging Initiative.,Vawter MP,Knowles JA,Potkin SG,Macciardi F

更新日期：2013-08-01 00:00:00

abstract：:The transforming growth factor beta (TGF-beta) superfamily is a family of multifunctional cytokines that transduce signals via serine/threonine kinase receptors. Recent studies revealed that Mothers against dpp (Mad) in Drosophila and its homologs play important roles in the intracellular signal transduction of the se...

journal_title：Genomics

authors： Takenoshita S,Mogi A,Nagashima M,Yang K,Yagi K,Hanyu A,Nagamachi Y,Miyazono K,Hagiwara K

更新日期：1998-02-15 00:00:00

abstract：:The human HYAL2 gene encodes a lysosomal hyaluronidase that is related to the testicular PH-20 hyaluronidase. Regions conserved in these proteins have been used to design PCR primers suitable for the isolation of a fragment of the murine Hyal2 gene. This fragment was used to isolate the Hyal2 cDNA from a cDNA library....

journal_title：Genomics

authors： Strobl B,Wechselberger C,Beier DR,Lepperdinger G

更新日期：1998-10-15 00:00:00

abstract：:The yeast RAD52-dependent pathway is involved in DNA recombination and double-strand break repair. Yeast ubiquitin-conjugating enzyme UBC9 participates in S- and M-phase cyclin degradation and mitotic control. Using the human RAD52 protein as the "bait" in a yeast two-hybrid system, we have identified a human homolog ...

journal_title：Genomics

authors： Shen Z,Pardington-Purtymun PE,Comeaux JC,Moyzis RK,Chen DJ

更新日期：1996-10-15 00:00:00

abstract：:Vertebrate tissue inhibitors of metalloproteinases (TIMPs) regulate extracellular matrix metalloproteinases and are thus involved in a wide variety of developmental and physiological processes. By identifying cDNAs of a transcript detected within an intron of the Drosophila synapsin gene we have cloned the Drosophila ...

journal_title：Genomics

authors： Pohar N,Godenschwege TA,Buchner E

更新日期：1999-04-15 00:00:00

abstract：:Inducible costimulatory receptor (ICOS) is one recently identified member of the CD28 family of costimulatory molecules. Evidence suggests ICOS functions as a critical immune regulator and, to evaluate these effects, we employed the canine model system that has been used to develop strategies currently in clinical use...

journal_title：Genomics

authors： Lee JH,Joo YD,Yim D,Lee R,Ostrander EA,Loretz C,Little MT,Storb R,Kuhr CS

更新日期：2004-10-01 00:00:00

abstract：:Four highly conserved members of the skeletal protein 4.1 gene family encode a diverse array of protein isoforms via tissue-specific transcription and developmentally regulated alternative pre-mRNA splicing. In addition to the prototypical red blood cell 4.1R (human gene symbol EPB41,) these include two homologues tha...

journal_title：Genomics

authors： Peters LL,Weier HU,Walensky LD,Snyder SH,Parra M,Mohandas N,Conboy JG

更新日期：1998-12-01 00:00:00

abstract：:The Tcp-1 gene is located in the t-complex region of mouse chromosome 17 and on the long arm of human chromosome 6. In the mouse, a related gene, Tcp-1x, is tightly linked to Tcp-1. It is shown here that two genes located 3' to the murine Tcp-1 and Tcp-1x genes code for proteins highly homologous to acetyl-CoA acetylt...

journal_title：Genomics

authors： Ashworth A

更新日期：1993-11-01 00:00:00

abstract：:Physical maps of the human genome are being constructed by many groups using a mapping strategy that relies on the development of sequence-tagged sites (STSs). Thousands of physically mapped STSs, representing hundreds of kilobases (kb) of unique human DNA sequence, have been generated by these efforts. Since sequence...

journal_title：Genomics

authors： Kwok PY,Deng Q,Zakeri H,Taylor SL,Nickerson DA

更新日期：1996-01-01 00:00:00

abstract：:Using an interspecies backcross, we have mapped the HOX-5 and surfeit (surf) gene clusters within the proximal portion of mouse chromosome 2. While the HOX-5 cluster of homeobox-containing genes has been localized to chromosome 2, bands C3-E1, by in situ hybridization, its more precise position relative to the genes a...

journal_title：Genomics

authors： Stubbs L,Huxley C,Hogan B,Evans T,Fried M,Duboule D,Lehrach H

更新日期：1990-04-01 00:00:00

abstract：:Mice that are heterozygous for the ragged (Ra) mutation, which is semidominant, have ragged coats caused by an absence of certain hair types. Ra/Ra homozygous mice usually die soon after birth, are naked, and have edema. Mice that are homozygous for the recessive mutation wasted (wst) appear normal until soon after we...

journal_title：Genomics

authors： Abbott C,Malas S,Pilz A,Pate L,Ali R,Peters J

更新日期：1994-03-01 00:00:00

abstract：:A complete genetic linkage map of the soybean, in which sequence-based (SB) genetic markers are evenly distributed genomewide, was constructed from an F(12) population composed of 113 recombinant inbred lines derived from an interspecific cross involving Korean genotypes Hwangkeum and IT182932. Several approaches were...

journal_title：Genomics

authors： Yang K,Moon JK,Jeong N,Back K,Kim HM,Jeong SC

更新日期：2008-07-01 00:00:00

abstract：:The gene encoding activation-induced cytidine deaminase (AID), a member of the cytidine deaminase family, was isolated from a murine B cell lymphoma line, CH12F3-2, induced by combined stimulation of TGF-beta, IL-4, and CD40L. We have isolated the human orthologue of mouse AID cDNA, which has an open reading frame of ...

journal_title：Genomics

authors： Muto T,Muramatsu M,Taniwaki M,Kinoshita K,Honjo T

更新日期：2000-08-15 00:00:00

abstract：:The two contiguous IGF2 (human insulin-like growth factor II) and H19 genes are reciprocally imprinted in both human and mouse. In most tissues, IGF2 is transcribed only from the paternal chromosome while H19 is transcribed only from the maternal allele. The presence of a differential methylation region (DMR) on the t...

journal_title：Genomics

authors： Vu TH,Li T,Nguyen D,Nguyen BT,Yao XM,Hu JF,Hoffman AR

更新日期：2000-03-01 00:00:00

abstract：:A gene family of Na+/H+ exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na+/H+ exchanger isoform responsible for transepithelial, electroneutral Na+ absorption in intestinal and renal epithelial cells. We have previously isolated from a human kidney cor...

journal_title：Genomics

authors： Brant SR,Bernstein M,Wasmuth JJ,Taylor EW,McPherson JD,Li X,Walker S,Pouyssegur J,Donowitz M,Tse CM

更新日期：1993-03-01 00:00:00

abstract：:The Kruppel-like factors (KLFs) belong to the family of zinc finger-containing transcription factors that regulates a diverse array of cellular processes, including cell proliferation, differentiation, and apoptosis. Here we reported the structure, mapping and phylogenetic analysis of KLF gene family in pigs. Comparat...

journal_title：Genomics

authors： Chen Z,Lei T,Chen X,Zhang J,Yu A,Long Q,Long H,Jin D,Gan L,Yang Z

更新日期：2010-02-01 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