A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution.

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：:The human MAGE1 gene directs the expression of an antigen recognized on a melanoma by autologous cytolytic T lymphocytes. MAGE1 belongs to a family of genes that are expressed in a number of tumors of various histological types but not in normal tissues except testis. The MAGE genes are arranged in two groups that are...

journal_title：Genomics

authors： De Backer O,Verheyden AM,Martin B,Godelaine D,De Plaen E,Brasseur R,Avner P,Boon T

更新日期：1995-07-01 00:00:00

abstract：BACKGROUND:Renal fibrosis is a final common pathway of chronic kidney disease. SIRT1, a NAD+-dependent protein deacetylase, deacetylates the p65 of NF-κB and shows protective effects in kidney disorders. miR-373 directly targets the 3'UTR of SIRT1. However, roles of miR-373 in renal fibrosis are unclear. METHODS:TGF-β...

journal_title：Genomics

authors： Yang H,Liao D,Tong L,Zhong L,Wu K

更新日期：2019-07-01 00:00:00

abstract：:Cross-species comparative genomics is a powerful strategy for identifying functional regulatory elements within noncoding DNA. In this paper, comparative analysis of human and mouse intronic sequences in the breast cancer susceptibility gene (BRCA1) revealed two evolutionarily conserved noncoding sequences (CNS) in in...

journal_title：Genomics

authors： Wardrop SL,Brown MA,kConFab Investigators.

更新日期：2005-09-01 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：: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 goat beta-globin cluster is composed of a triplicated four-gene set. A locus control region (LCR) containing elements homologous to 5'DNase I hypersensitive sites (HS) 1, 2, and 3 of the human beta-globin LCR has been identified at the 5' end of this locus. We determined 10.2 kb of nucleotide sequence from the goa...

journal_title：Genomics

authors： Li Q,Zhou B,Powers P,Enver T,Stamatoyannopoulos G

更新日期：1991-03-01 00:00:00

abstract：:The region of the dystrophin gene containing introns 45-50 is characterized by a high rate of recombination events that give rise to large deletions causing dystrophinopathy. The nucleotide sequence of this intronic region has recently been released in GenBank. With the aim of further understanding the mechanism favor...

journal_title：Genomics

authors： Toffolatti L,Cardazzo B,Nobile C,Danieli GA,Gualandi F,Muntoni F,Abbs S,Zanetti P,Angelini C,Ferlini A,Fanin M,Patarnello T

更新日期：2002-11-01 00:00:00

abstract：:Oncogenic hypophosphatemic osteomalacia (OHO) is characterized by a renal phosphate leak, hypophosphatemia, low-serum calcitriol (1,25-vitamin-D3), and abnormalities in skeletal mineralization. Resection of OHO tumors results in remission of the symptoms, and there is evidence that a circulating phosphaturic factor pl...

journal_title：Genomics

authors： Rowe PS,de Zoysa PA,Dong R,Wang HR,White KE,Econs MJ,Oudet CL

更新日期：2000-07-01 00:00:00

abstract：:The cDNA for the PSST subunit of human mitochondrial nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase [complex I; NADH dehydrogenase (ubiquinone), Fe-S (20 kDa); EC 1.6.5.3] was generated by polymerase chain reaction (PCR) amplification of human cDNA. The sequence of the mature protein deduced from ...

journal_title：Genomics

authors： Hyslop SJ,Duncan AM,Pitkänen S,Robinson BH

更新日期：1996-11-01 00:00:00

abstract：:We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However...

journal_title：Genomics

authors： Hendrickx J,Coucke P,Hors-Cayla MC,Smit GP,Shin YS,Deutsch J,Smeitink J,Berger R,Lee P,Fernandes J

更新日期：1994-06-01 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：:Hermansky-Pudlak syndrome (HPS) is a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules. In the mouse, at least 15 loci are associated with mutant phenotypes similar to human HPS. We have identified the gene mutated in cocoa (coa...

journal_title：Genomics

authors： Suzuki T,Li W,Zhang Q,Novak EK,Sviderskaya EV,Wilson A,Bennett DC,Roe BA,Swank RT,Spritz RA

更新日期：2001-11-01 00:00:00

abstract：:The use of round spermatids that are fully active at the transcriptional level to create zygotes (i.e. round spermatid injection; ROSI) raises the question regarding the downregulation of all specific genes that are transcribed from the paternal genome at fertilization. In this study, we show that protamine 1 and 2 mR...

journal_title：Genomics

authors： Borghol N,Blachère T,Lefèvre A

更新日期：2008-05-01 00:00:00

abstract：:Childhood-onset asthma is frequently found in association with atopy. Although asthmatic children may develop IgE antibodies against variety of allergens, asthma is associated primarily with allergy to house-dust mites, molds, or other allergens. In this study, we conducted a genome-wide linkage search in 47 Japanese ...

journal_title：Genomics

authors： Yokouchi Y,Nukaga Y,Shibasaki M,Noguchi E,Kimura K,Ito S,Nishihara M,Yamakawa-Kobayashi K,Takeda K,Imoto N,Ichikawa K,Matsui A,Hamaguchi H,Arinami T

更新日期：2000-06-01 00:00:00

abstract：:Understanding differences in the repertoire of orthologous gene pairs is vital for interpretation of pharmacological and physiological experiments if conclusions are conveyed between species. Here we present a comprehensive dataset for G protein-coupled receptors (GPCRs) in both human and mouse with a phylogenetic roa...

journal_title：Genomics

authors： Bjarnadóttir TK,Gloriam DE,Hellstrand SH,Kristiansson H,Fredriksson R,Schiöth HB

更新日期：2006-09-01 00:00:00

abstract：:Previous studies identified the gene encoding the erythrocyte membrane protein 4.2 (Epb4.2) as a candidate for the mouse mutation pallid (pa); Epb4.2 genetically colocalized near pa on mouse Chromosome 2, and a truncated Epb4.2 transcript was present in tissues derived from pallid mice. We report here evidence that Ep...

journal_title：Genomics

authors： Gwynn B,Korsgren C,Cohen CM,Ciciotte SL,Peters LL

更新日期：1997-06-15 00:00:00

abstract：:Mutations in genes encoding polycystin-1 (PC1) and polycystin-2 cause autosomal dominant polycystic kidney disease. The polycystin protein family is composed of Ca2+-permeable pore-forming subunits and receptor-like integral membrane proteins. Here we describe a novel member of the polycystin-1-like subfamily, polycys...

journal_title：Genomics

authors： Yuasa T,Takakura A,Denker BM,Venugopal B,Zhou J

更新日期：2004-07-01 00:00:00

abstract：:The human gene XPC (formerly designated XPCC), which corrects the repair deficiency of xeroderma pigmentosum (XP) group C cells, was mapped to 3p25. A cDNA probe for Southern blot hybridization and diagnostic PCR analyses of hybrid clone panels informative for human chromosomes in general and portions of chromosome 3 ...

journal_title：Genomics

authors： Legerski RJ,Liu P,Li L,Peterson CA,Zhao Y,Leach RJ,Naylor SL,Siciliano MJ

更新日期：1994-05-01 00:00:00

abstract：:The promoter/5' flank sequence, cDNA sequence, and exon/intron structures of the human thrombospondin 3 (THBS3) gene have been determined. THBS3 cDNA clones were obtained by PCR amplification of human fetal lung cDNA using THBS3-specific primers. Analysis of cDNA and genomic sequences showed the THBS3 gene to be compo...

journal_title：Genomics

authors： Adolph KW,Long GL,Winfield S,Ginns EI,Bornstein P

更新日期：1995-05-20 00:00:00

abstract：:A novel gene, TEGT (testis enhanced gene transcript), has been identified in humans. It does not belong to any known gene family of vertebrates. The deduced amino acid sequence of the gene and a bacterial protein of unknown function show low but significant homology and very similar hydrophobicity profiles. Two differ...

journal_title：Genomics

authors： Walter L,Marynen P,Szpirer J,Levan G,Günther E

更新日期：1995-07-20 00:00:00

abstract：:The sequence of the human Gc gene, including 4228 base pairs of the 5'-flanking region and 8514 base pairs of the 3' flanking region (55,136 in total), was determined from five overlapping lambda phage clones. The sequence spans 42,394 base pairs from the cap site to the polyadenylation site, and it reveals that the g...

journal_title：Genomics

authors： Witke WF,Gibbs PE,Zielinski R,Yang F,Bowman BH,Dugaiczyk A

更新日期：1993-06-01 00:00:00

abstract：:The SH2 domain containing inositol 5'-phosphatase (SHIP) was initially described as a 145-kDa protein phosphorylated on tyrosines upon growth factor and cytokine stimulation. It was shown to be phosphorylated after Fc and B cell receptor activation and plays a role in negative signaling. Different isoforms of the SHIP...

journal_title：Genomics

authors： Wolf I,Lucas DM,Algate PA,Rohrschneider LR

更新日期：2000-10-01 00:00:00

abstract：:Calcyclin is a member of the S100 family of proteins, many of which are encoded by genes that have been localized to the proximal long arm of human chromosome 1 (bands q21-q22). A 450-kb yeast artificial chromosome clone containing the human calcyclin gene was identified by PCR screening and used as a probe for fluore...

journal_title：Genomics

authors： Hardas BD,Zhang J,Trent JM,Elder JT

更新日期：1994-05-15 00:00:00

abstract：:Aminoacylase-1 (ACY1, EC 3.5.1.14) is a cytosolic enzyme with a wide range of tissue expression and has been postulated to function in the catabolism and salvage of acylated amino acids. ACY1 has been assigned to chromosome 3p21, a region reduced to homozygosity in small-cell lung cancer and renal cell carcinoma, and ...

journal_title：Genomics

authors： Miller YE,Drabkin H,Jones C,Fisher JH

更新日期：1990-09-01 00:00:00

abstract：:The sequence of the gorilla alpha-fetoprotein gene, including 869 base pairs of the 5' flanking region and 4892 base pairs of the 3' flanking region (24,607 in total), was determined from two overlapping lambda phage clones. The sequence extends 18,846 base pairs from the Cap site to the polyadenylation site, and it r...

journal_title：Genomics

authors： Ryan SC,Zielinski R,Dugaiczyk A

更新日期：1991-01-01 00:00:00

abstract：:In this investigation, whole-genome identification and functional characterization of the cotton dehydrin genes was carried out. A total of 16, 7, and 7 dehydrin proteins were identified in G. hirsutum, G. arboreum and G. raimondii, respectively. Through RNA sequence data and RT-qPCR validation, Gh_A05G1554 (GhDHN_03)...

journal_title：Genomics

authors： Kirungu JN,Magwanga RO,Pu L,Cai X,Xu Y,Hou Y,Zhou Y,Cai Y,Hao F,Zhou Z,Wang K,Liu F

更新日期：2020-03-01 00:00:00

abstract：:The genomic structure, transcription start site, polyadenylation signals, and promoter of the human Na+/ myo-inositol cotransporter (SLC5A3) gene have been elucidated through cloning, sequencing, mRNA analyses, and reporter gene assays. The gene consists of one promoter and two exons spanning approximately 26 kb. Exon...

journal_title：Genomics

authors： Mallee JJ,Atta MG,Lorica V,Rim JS,Kwon HM,Lucente AD,Wang Y,Berry GT

更新日期：1997-12-15 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：:A linkage analysis with chromosome 9 markers was performed in 33 families with Friedreich ataxia (FA). Linkage with D9S15, previously established by S. Chamberlain et al. (1988, Nature London 334:248-249) was confirmed in our sample (z(theta) = 6.82 at theta = 0.02) while INFB (interferon-beta gene) shows looser linka...

journal_title：Genomics

authors： Fujita R,Agid Y,Trouillas P,Seck A,Tommasi-Davenas C,Driesel AJ,Olek K,Grzeschik KH,Nakamura Y,Mandel JL,Hanauer A

更新日期：1989-01-01 00:00:00