Whole genome sequencing of pairwise human subjects reveals DNA mutations specific to developmental dysplasia of the hip.

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 chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed to provide a resource for long-range mapping of this region. A large fraction of the hybrids (approximately 90%) retained...

journal_title：Genomics

authors： Abel KJ,Boehnke M,Prahalad M,Ho P,Flejter WL,Watkins M,VanderStoep J,Chandrasekharappa SC,Collins FS,Glover TW

更新日期：1993-09-01 00:00:00

abstract：:Small-scale changes in gene order and orientation are common in plant genomes, even across relatively short evolutionary distances. We investigated the association of retrotransposons in and near rice gene pairs with gene pair conservation, inversion, rearrangement, and deletion in sorghum, maize, and Brachypodium. Co...

journal_title：Genomics

authors： Krom N,Ramakrishna W

更新日期：2012-05-01 00:00:00

abstract：:Glomerulopathy with fibronectin deposits (GFND, MIM 601894) is an autosomal dominant kidney disease that leads to terminal renal failure at a median age of 47 years. It represents a distinct entity of membranoproliferative glomerulonephritis (MPGN) type III and is characterized by the unique feature of massive glomeru...

journal_title：Genomics

authors： Vollmer M,Kremer M,Ruf R,Miot S,Nothwang HG,Wirth J,Otto E,Krapf R,Hildebrandt F

更新日期：2000-09-01 00:00:00

abstract：:To refine the linkage map of mouse Chromosome (Chr) 12 and to define better the homology relationships between it and human chrs 2p and 14q, nine new anonymous DNA markers of Chr 12 were identified, and mouse loci homologous to the human D14S17, CHGA, HSPA2, RRM2, TPO, and ZFP50 ("KUP") genes were defined. The inherit...

journal_title：Genomics

authors： Khan F,Clarke V,D'Eustachio P

更新日期：1994-05-01 00:00:00

abstract：:We used a combination of sequence analysis and exon trapping in an effort to determine the complete transcript map for a cosmid (6E5) derived from 12q13.3, a region of DNA sequence amplification in human cancers. This cosmid, previously known to contain three genes (CDK4, SAS, and OS9), was sequenced, and that informa...

journal_title：Genomics

authors： Elkahloun AG,Krizman DB,Wang Z,Hofmann TA,Roe B,Meltzer PS

更新日期：1997-06-01 00:00:00

abstract：:RFX1 is a transacting DNA-binding regulatory factor involved in the control of MHC class II gene expression. RFX2 is a structurally very similar protein with identical DNA binding features. A member of the family of RFX factors is affected in an autosomal recessive disease, MHC class II deficient combined immunodefici...

journal_title：Genomics

authors： Pugliatti L,Derré J,Berger R,Ucla C,Reith W,Mach B

更新日期：1992-08-01 00:00:00

abstract：:Premature ovarian failure (POF) is characterized by heterogeneous genetic causes such as chromosomal abnormalities and variants in causal genes. Recently, development of techniques made next generation sequencing (NGS) possible to detect genome wide variants including chromosomal abnormalities. Among 37 Korean POF pat...

journal_title：Genomics

authors： Lee Y,Kim C,Park Y,Pyun JA,Kwack K

更新日期：2016-12-01 00:00:00

abstract：:The identification of noncoding functional elements within vertebrate genomes, such as those that regulate gene expression, is a major challenge. Comparisons of orthologous sequences from multiple species are effective at detecting highly conserved regions and can reveal potential regulatory sequences. The GDF6 gene c...

journal_title：Genomics

authors： Portnoy ME,McDermott KJ,Antonellis A,Margulies EH,Prasad AB,NISC Comparative Sequencing Program.,Kingsley DM,Green ED,Mortlock DP

更新日期：2005-09-01 00:00:00

abstract：:In this report we present the genomic, cDNA, and predicted protein sequences for mouse apolipoproteins A-I and CIII, as well as sequence comparisons with other species. The genes for these apolipoproteins are within 2.5 kb of each other and convergently transcribed. The almost 9 kb of genomic sequence presented extend...

journal_title：Genomics

authors： Januzzi JL,Azrolan N,O'Connell A,Aalto-Setälä K,Breslow JL

更新日期：1992-12-01 00:00:00

abstract：:Physical maps can be constructed by "fingerprinting" a large number of random clones and inferring overlap between clones when the fingerprints are sufficiently similar. E. Lander and M. Waterman (Genomics 2: 231-239, 1988) gave a mathematical analysis of such mapping strategies. The analysis is useful for comparing v...

journal_title：Genomics

authors： Port E,Sun F,Martin D,Waterman MS

更新日期：1995-03-01 00:00:00

abstract：:Multiple infections by HPV genotypes are frequently detected in HPV+ cervical lesions but the interaction between each viral genotype during carcinogenesis is poorly understood. Here we carried out a comprehensive study to characterize the multiple HPV expression and integration by RNA-seq analyses of 19 invasive cerv...

journal_title：Genomics

authors： Brant AC,Menezes AN,Felix SP,Almeida LM,Moreira MAM

更新日期：2020-09-01 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：:A comparison study of short SAGE versus GeneChip and long SAGE was conducted to determine if data were interchangeable between the techniques. Although SAGE and Affymetrix chip expression levels showed a significant correlation using the set of genes for which there was reliable and unambiguous mapping from tag-to-gen...

journal_title：Genomics

authors： Lu J,Lal A,Merriman B,Nelson S,Riggins G

更新日期：2004-10-01 00:00:00

abstract：:MicroRNAs are small non-coding regulatory RNA molecules that play an important role in the modulation of gene expression during various environmental stresses. Pseudomonas putida RA, a plant growth promoting rhizobacteria (PGPR) colonizes the root surface of plants improving their growth and development during abiotic...

journal_title：Genomics

authors： Jatan R,Chauhan PS,Lata C

更新日期：2019-07-01 00:00:00

abstract：:Proprotein convertase 4 (PC4) is a mammalian secretory serine endoproteinase similar to the yeast KEX2 gene product and specifically expressed in testicular germs cells. PC4 mRNA isoforms that vary in size and 3' coding sequence have been reported (N. G. Seitah, R. Day, J. Hamelin, A. Gaspar, M. W. Collard, and M. Chr...

journal_title：Genomics

authors： Mbikay M,Raffin-Sanson ML,Tadros H,Sirois F,Seidah NG,Chretien M

更新日期：1994-03-15 00:00:00

abstract：:A human corneal fibroblast cDNA library was screened with a bovine lumican cDNA probe to obtain three clones. Sequencing of the longest clone (1.75 kb) yielded an open reading frame of 1014 bp coding for a 338-amino-acid core protein. Amino acid sequencing of a tryptic peptide resulted in a 9-amino-acid match with the...

journal_title：Genomics

authors： Chakravarti S,Stallings RL,SundarRaj N,Cornuet PK,Hassell JR

更新日期：1995-06-10 00:00:00

abstract：:Co-expression networks may provide insights into the patterns of molecular interactions that underlie cellular processes. To obtain a better understanding of miRNA expression patterns in gastric adenocarcinoma and to provide markers that can be associated with histopathological findings, we performed weighted gene cor...

journal_title：Genomics

authors： Yepes S,López R,Andrade RE,Rodriguez-Urrego PA,López-Kleine L,Torres MM

更新日期：2016-08-01 00:00:00

abstract：:The acyl-CoA binding protein (ACBP) and the diazepam binding inhibitor (DBI) or endozepine are independent isolates of a single 86-amino-acid, 10-kDa protein. ACBP/DBI is highly conserved between species and has been identified in several diverse organisms, including human, cow, rat, frog, duck, insects, plants, and y...

journal_title：Genomics

authors： Gersuk VH,Rose TM,Todaro GJ

更新日期：1995-01-20 00:00:00

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：:The genes for type XIII collagen (COL13A1) and prolyl 4-hydroxylase (P4HA) were previously assigned to human chromosome 10q by radioactive in situ hybridization. Here we have applied fluorescence in situ hybridization combined with targets representing different levels of resolution to determine, first, the order of t...

journal_title：Genomics

authors： Horelli-Kuitunen N,Kvist AP,Helaakoski T,Kivirikko K,Pihlajaniemi T,Palotie A

更新日期：1997-12-01 00:00:00

abstract：:To study the function of the B cell signal transduction molecule alpha 4 (IGBP1), we isolated a human alpha 4 (IGBP1) gene that has sequence similarity to the yeast protein (TAP42) involved in the rapamycin-sensitive signal transduction pathway. The human alpha 4 has sequence identities with murine alpha 4 of 83.4% nu...

journal_title：Genomics

authors： Onda M,Inui S,Maeda K,Suzuki M,Takahashi E,Sakaguchi N

更新日期：1997-12-15 00:00:00

abstract：:Transcobalamin I (TCI) is a vitamin B12 binding protein that is found in the secondary granules of mature neutrophils. The expression of the gene for TCI (TCN1) within neutrophils has been shown to be restricted to the later stages of myeloid development and can therefore be used as a marker for granulocyte differenti...

journal_title：Genomics

authors： Johnston J,Yang-Feng T,Berliner N

更新日期：1992-03-01 00:00:00

abstract：:Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for...

journal_title：Genomics

authors： Dosé AC,Burnside B

更新日期：2002-05-01 00:00:00

abstract：:Cardiomyopathies are severe degenerative disorders of the myocardium that lead to heart failure. During the last three decades bovine dilated cardiomyopathy (BDCMP) was observed worldwide in cattle of Holstein-Friesian origin. In the Swiss cattle population BDCMP affects Fleckvieh and Red Holstein breeds. The heart of...

journal_title：Genomics

authors： Owczarek-Lipska M,Plattet P,Zipperle L,Drögemüller C,Posthaus H,Dolf G,Braunschweig MH

更新日期：2011-01-01 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：:In this report the identification, structure, and chromosomal localization of the human neurogranin gene (NRGN) are described. NRGN is the human homolog of the rat Ng/RC3 gene, which encodes a brain-specific protein expressed in telencephalic neurons. The human NRGN gene spans approximately 12 kb and contains four exo...

journal_title：Genomics

authors： Martínez de Arrieta C,Pérez Jurado L,Bernal J,Coloma A

更新日期：1997-04-15 00:00:00

abstract：:We have isolated and chromosomally fine-mapped 16 novel genes belonging to the human zinc finger Krüppel family (ZNF131-140, 142, 143, 148, 151, 154, and 155), including 1 of the GLI type (ZNF143) and 3 containing a KRAB (Krüppel-associated box) segment (ZNF133, 136, and 140). Based on their map position, several of t...

journal_title：Genomics

authors： Tommerup N,Vissing H

更新日期：1995-05-20 00:00:00

abstract：:The gene for X-linked agammaglobulinemia (XLA) has been mapped to Xq22. No recombinations have been reported between the gene and the probe p212 at DXS178; however, this probe is informative in only 30-40% of women and the reported flanking markers, DXS3 and DXS94, are 10-15 cM apart. To identify additional probes tha...

journal_title：Genomics

authors： Parolini O,Hejtmancik JF,Allen RC,Belmont JW,Lassiter GL,Henry MJ,Barker DF,Conley ME

更新日期：1993-02-01 00:00:00

abstract：:We sequenced the mitogenomes of Astictopterus jama, Isoteinon lamprospilus and Notocrypta curvifascia to obtain further insight into the mitogenomic architecture evolution and performed phylogenetic reconstruction using 29 Hesperiidae mitogenome sequences. The complete mitogenome sequences of A. jama, I. lamprospilus ...

journal_title：Genomics

authors： Ma L,Liu F,Chiba H,Yuan X

更新日期：2020-01-01 00:00:00