Transcriptome of the human retina, retinal pigmented epithelium and choroid.

abstract：:The human genes encoding the alpha and beta forms of the retinoic acid receptor are known to be located on chromosomes 17 (band q21.1:RARA) and 3 (band p24:RARB). By in situ hybridization, we have now localized the gene for retinoic acid receptor gamma, RARG, on chromosome 12, band q13. We also mapped the three retino...

journal_title：Genomics

authors： Mattei MG,Rivière M,Krust A,Ingvarsson S,Vennström B,Islam MQ,Levan G,Kautner P,Zelent A,Chambon P

更新日期：1991-08-01 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative condition, some types of which (notably CMT4A) are caused by mutations in the GDAP1 gene that encodes a protein of unknown molecular function implicated in regulation of mitochondrial fission. Here we present for the first time a functional analysis of...

journal_title：Genomics

authors： Ratajewski M,Pulaski L

更新日期：2009-12-01 00:00:00

abstract：:A genetic map of nine loci defined by polymorphic DNA markers was created using a single cross of F344/N and LEW/N rats. The markers contained polymorphic simple sequence repeats identified in five genes, renin (Ren), cardiac troponin T (Tnnt3), synaptotagmin (Syt2), Na+,K(+)-ATPase catalytic subunit (Atp1a2), and the...

journal_title：Genomics

authors： Remmers EF,Goldmuntz EA,Zha H,Mathern P,Du Y,Crofford LJ,Wilder RL

更新日期：1993-11-01 00:00:00

abstract：:The gene coding for the alpha 5 chian of type IV collagen (alpha 5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3' end of the alpha 5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this g...

journal_title：Genomics

authors： Boye E,Vetrie D,Flinter F,Buckle B,Pihlajaniemi T,Hamalainen ER,Myers JC,Bobrow M,Harris A

更新日期：1991-12-01 00:00:00

abstract：:Intercellular adhesion molecule-1 (ICAM-1) is an integral membrane protein, a member of the immunoglobulin superfamily, and a ligand for LFA-1, a beta 2 leukocyte integrin. ICAM-1 has a tissue distribution similar to that of the major histocompatibility complex class II antigens and is likely to play a role in inflamm...

journal_title：Genomics

authors： Ballantyne CM,Kozak CA,O'Brien WE,Beaudet AL

更新日期：1991-03-01 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：:S-lac lectins are a family of soluble lactose-binding proteins thought to function in the control of cell growth. We now report the chromosomal mapping of two members of the family, termed L-14-I and L-14-II, to the q12-q13 region of human chromosome 22, suggesting the possibility of a cluster of genes for lactose-bin...

journal_title：Genomics

authors： Mehrabian M,Gitt MA,Sparkes RS,Leffler H,Barondes SH,Lusis AJ

更新日期：1993-02-01 00:00:00

abstract：:We have isolated and examined the gene for the heart isoform of cytochrome c oxidase subunit VIIa (COX VIIa-H) in mouse, an isoform gene previously thought to be lacking in rodents. Interspecies amino acid comparisons indicate that mouse COX VIIa-H protein displays 82.5 and 70.9% identity with the bovine and human hea...

journal_title：Genomics

authors： Jaradat SA,Ko MS,Grossman LI

更新日期：1998-05-01 00:00:00

abstract：:Biologic effects of androgen on target cells are mediated in part by transcriptional regulation of androgen-regulated genes (ARGs) by androgen receptor. Using serial analysis of gene expression (SAGE), we have identified a comprehensive repertoire of ARGs in LNCaP cells. One of the SAGE-derived tags exhibiting homolog...

journal_title：Genomics

authors： Xu LL,Shanmugam N,Segawa T,Sesterhenn IA,McLeod DG,Moul JW,Srivastava S

更新日期：2000-06-15 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：:To identify novel genes regulating the biologic response to lipopolysaccharide (LPS), we used a combination of quantitative trait locus (QTL) analysis and microarray-based gene expression studies of C57BL/6J x DBA/2J(BXD) F2 and recombinant inbred (RI) mice. A QTL affecting pulmonary TNF-alpha production was identifie...

journal_title：Genomics

authors： Cook DN,Wang S,Wang Y,Howles GP,Whitehead GS,Berman KG,Church TD,Frank BC,Gaspard RM,Yu Y,Quackenbush J,Schwartz DA

更新日期：2004-06-01 00:00:00

abstract：:We conducted a comprehensive analysis of codon usage bias (CUB) based on the available non-redundant full-length cDNA (nrFLcDNA) and expressed sequence tags (ESTs) data of cultivar Micro-Tom and evaluated the associations of observed CUB and measurements of transcriptional and translational effectiveness. The analysis...

journal_title：Genomics

authors： Sablok G,Wu X,Kuo J,Nayak KC,Baev V,Varotto C,Zhou F

更新日期：2013-05-01 00:00:00

abstract：:We have determined the cDNA and genomic structure of a gene (-14 gene) that lies adjacent to the human alpha-globin cluster. Although it is expressed in a wide range of cell lines and tissues, a previously described erythroid-specific regulatory element that controls expression of the alpha-globin genes lies within in...

journal_title：Genomics

authors： Vyas P,Vickers MA,Picketts DJ,Higgs DR

更新日期：1995-10-10 00:00:00

abstract：:In an attempt to identify C/EBP-like transcription factors expressed in the prostate, a cDNA homologous to the mouse C/EBP delta (CRP3) and the rat CELF gene was isolated. A genomic clone containing the entire C/EBP delta gene was isolated using a cDNA fragment as a probe. The gene was characterized by restriction map...

journal_title：Genomics

authors： Cleutjens CB,van Eekelen CC,van Dekken H,Smit EM,Hagemeijer A,Wagner MJ,Wells DE,Trapman J

更新日期：1993-05-01 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：:A novel human gene, SARM, encodes the orthologue of a Drosophila protein (CG7915) and contains a unique combination of the sterile alpha (SAM) and the HEAT/Armadillo motifs. The SARM gene was identified on chromosome 17q11, between markers D17S783 and D17S841 on BAC clone AC002094, which also included a HERV repeat an...

journal_title：Genomics

authors： Mink M,Fogelgren B,Olszewski K,Maroy P,Csiszar K

更新日期：2001-06-01 00:00:00

abstract：:Haemophilia is an X-linked genetic disorder in which A and B types are the most common that occur due to absence or lack of protein factors VIII and IX, respectively. Severity of the disease depends on mutation. Available Machine Learning (ML) methods that predict the mutational severity by using traditional encoding ...

journal_title：Genomics

authors： Singh VK,Maurya NS,Mani A,Yadav RS

更新日期：2020-11-01 00:00:00

abstract：:To identify genetic determinants relevant to non-insulin-dependent diabetes mellitus (NIDDM), we performed a genome-wide analysis for quantitative trait loci (QTLs) using 359 backcross progeny of the Otsuka Long-Evans Tokushima Fatty (OLETF) rat. The OLETF strain is a well-studied animal model of obese NIDDM, with fea...

journal_title：Genomics

authors： Watanabe TK,Okuno S,Oga K,Mizoguchi-Miyakita A,Tsuji A,Yamasaki Y,Hishigaki H,Kanemoto N,Takagi T,Takahashi E,Irie Y,Nakamura Y,Tanigami A

更新日期：1999-06-15 00:00:00

abstract：:The imprinted mouse H19 gene exhibits maternal allele-specific expression and paternal allele-specific hypermethylation. We previously demonstrated that a 14-kb H19 minitransgene possessing 5' differentially methylated sequence recapitulates the endogenous H19 imprinting pattern when present as high-copy arrays. To in...

journal_title：Genomics

authors： Cranston MJ,Spinka TL,Elson DA,Bartolomei MS

更新日期：2001-04-01 00:00:00

abstract：:MSG1 (melanocyte-specific gene 1) is a recently isolated gene predominantly expressed in cultured normal melanocytes and pigmented melanoma cells. MSG1 encodes a 27-kDa nuclear protein that has strong intrinsic transcriptional transactivating activity. In this report, the human MSG1 gene was mapped to chromosome Xq13....

journal_title：Genomics

authors： Fenner MH,Parrish JE,Boyd Y,Reed V,MacDonald M,Nelson DL,Isselbacher KJ,Shioda T

更新日期：1998-08-01 00:00:00

abstract：:A NotI linking library constructed from flow-sorted human chromosome 17 material was screened to aid in construction of a long-range restriction map of the Miller-Dieker chromosome region (MDCR) in 17p13.3. A total of 66 clones were mapped to one of eight regions of chromosome 17 using a somatic cell hybrid panel, and...

journal_title：Genomics

authors： Ledbetter SA,Wallace MR,Collins FS,Ledbetter DH

更新日期：1990-06-01 00:00:00

abstract：:The wealth of genomic technologies has enabled biologists to rapidly ascribe phenotypic characters to biological substrates. Central to effective biological investigation is the operational definition of the process under investigation. We propose an elucidation of categories of biological characters, including diseas...

journal_title：Genomics

authors： Baker EJ,Jay JJ,Philip VM,Zhang Y,Li Z,Kirova R,Langston MA,Chesler EJ

更新日期：2009-12-01 00:00:00

abstract：:We describe an improved method for construction of yeast artificial-chromosome (YAC) libraries that contain large inserts of foreign DNA. The procedure consists of seven steps: (i) preparation of human DNA in agarose beads; (ii) partial digestion of the DNA with EcoRI; (iii) electrophoretic elimination of the smaller ...

journal_title：Genomics

authors： Imai T,Olson MV

更新日期：1990-10-01 00:00:00

abstract：:SHIP2 is a new member of the inositol polyphosphate 5-phosphatase family showing homology to SHIP1. The structure of both enzymes is characterized by the presence of a 5' SH2 domain, a central catalytic domain, and a 3' proline-rich region. Recent results suggest that SHIP2 and SHIP1 act downstream of various receptor...

journal_title：Genomics

authors： Schurmans S,Carrió R,Behrends J,Pouillon V,Merino J,Clément S

更新日期：1999-12-01 00:00:00

abstract：:The genes for three subtilisin/kexin-like proprotein convertases, PC4, PC5, and PACE4, were mapped in the mouse by RFLP analysis of a DNA panel from a (C57BL/6JEi x SPRET/Ei)F1 x SPRET/Ei backcross. The chromosomal locations of the human homologs were determined by Southern blot analysis of a DNA panel from human-rode...

journal_title：Genomics

authors： Mbikay M,Seidah NG,Chrétien M,Simpson EM

更新日期：1995-03-01 00:00:00

abstract：:The canine species, including wolf and jackal, have four digits on the hind limb. It was thought that an extra first digit on the hind limb, named dewclaw, was a hereditary defect. For genetically related canine pedigrees with 73 members with dewclaws, we carried out a genome-wide scan for linkage with microsatellites...

journal_title：Genomics

authors： Park K,Kang J,Park S,Ha J,Park C

更新日期：2004-02-01 00:00:00

abstract：:The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leve...

journal_title：Genomics

authors： Wall DP,Esteban FJ,Deluca TF,Huyck M,Monaghan T,Velez de Mendizabal N,Goñí J,Kohane IS

更新日期：2009-02-01 00:00:00

abstract：:Conductin or Axil, an Axin homolog, plays an important role in the regulation of beta-catenin stability in the Wnt signaling pathway. To facilitate the molecular analysis of the human gene, we isolated the human homolog, AXIN2. The cDNA contains a 2529-bp open reading frame and encodes a putative protein of 843 amino ...

journal_title：Genomics

authors： Mai M,Qian C,Yokomizo A,Smith DI,Liu W

更新日期：1999-02-01 00:00:00

abstract：:Usher syndrome type 1 (USH1) is an autosomal recessive, genetically heterogeneous disorder causing severe congenital deafness, retinitis pigmentosa, and vestibular dysfunction. The USHla locus located on 14q32 has been linked to the genetic markers D14S250 and D14S78. Using D14S250 and D14S78, we have isolated two non...

journal_title：Genomics

authors： Eudy JD,Ma-Edmonds M,Yao SF,Talmadge CB,Kelley PM,Weston MD,Kimberling WJ,Sumegi J

更新日期：1997-07-01 00:00:00

abstract：:SLUG is a member of the snail family of zinc finger proteins. It is involved in epithelial to mesenchyme cell transition during neurulation and plays a role in limb bud development. We have isolated and described the human SLUG gene by sequencing a region spanning 4034 bp. The human SLUG gene contains three exons. The...

journal_title：Genomics

authors： Cohen ME,Yin M,Paznekas WA,Schertzer M,Wood S,Jabs EW

更新日期：1998-08-01 00:00:00