Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

abstract：:Background Bioinformatics tools are of great significance and are used in different spheres of life sciences. There are wide variety of tools available to perform primary analysis of DNA and protein but most of them are available on different platforms and many remain undetected. Accessing these tools separately to pe...

journal_title：Genomics

authors： Iqbal MN,Rasheed MA,Awais M,Chammam W,Kanwal S,Khan SU,Saddick S,Tlili I

更新日期：2020-11-01 00:00:00

abstract：:Genomic mismatch scanning (GMS) is a high-throughput, high-resolution identity by descent mapping technique that enriches for genomic DNA fragments that are shared between related individuals. In GMS, DNA heteroduplexes are formed from restriction-digested genomic DNA fragments from two relatives. Mismatch-free DNA he...

journal_title：Genomics

authors： Cheung VG,Nelson SF

更新日期：1998-01-01 00:00:00

abstract：:Members of the solute carrier family 25 (SLC25) are known to transport molecules over the mitochondrial membrane. In this paper we present 14 novel members of SLC25 family in human. These were provided with following gene symbols by the HGNC: SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A37, SLC25A38, SLC25A39, SLC25A...

journal_title：Genomics

authors： Haitina T,Lindblom J,Renström T,Fredriksson R

更新日期：2006-12-01 00:00:00

abstract：:We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF252...

journal_title：Genomics

authors： White MB,Krueger LJ,Holsclaw DS Jr,Gerrard BC,Stewart C,Quittell L,Dolganov G,Baranov V,Ivaschenko T,Kapronov NI

更新日期：1991-05-01 00:00:00

abstract：:The extremely high proliferation rate of tumor cells contributes to pancreatic cancer (PC) progression. Runt-related transcription factor 1(RUNX1), a key factor in hematopoiesis that was correlated with tumor progression. However, the role of RUNX1 in PC proliferation was still unclear. We found that RUNX1 was signifi...

journal_title：Genomics

authors： Liu S,Xie F,Gan L,Peng T,Xu X,Guo S,Fu W,Wang Y,Ouyang Y,Yang J,Wang X,Zheng Y,Zhang J,Wang H

更新日期：2020-11-01 00:00:00

abstract：:We have mapped 13 loci on mouse Chromosome 18 by Southern blot analysis of restriction fragment length polymorphisms among progeny from an interspecific backcross: (C57BL/6J X Mus spretus) X M. spretus. Complete haplotype analysis of 136 of these progeny was used to establish gene order and estimate genetic distances ...

journal_title：Genomics

authors： Johnson KR,Davisson MT

更新日期：1992-08-01 00:00:00

abstract：:A new member of the insulin gene superfamily (INSL5) was identified by searching EST databases for the presence of the conserved insulin B-chain cysteine motif. Human and murine INSL5 are both polypeptides of 135 amino acids, matching the classical signature of the insulin superfamily. Through the B- and A-chain regio...

journal_title：Genomics

authors： Conklin D,Lofton-Day CE,Haldeman BA,Ching A,Whitmore TE,Lok S,Jaspers S

更新日期：1999-08-15 00:00:00

abstract：:The hypoxanthine phosphoribosyltransferase (Hprt) locus has been shown to have minimal influence on transgene expression when used as a surrogate site in the mouse genome. We have developed a method to transfer bacterial artificial chromosomes (BACs) as a single copy into the partially deleted Hprt locus of embryonic ...

journal_title：Genomics

authors： Heaney JD,Rettew AN,Bronson SK

更新日期：2004-06-01 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：:Brachyuran crabs comprise the most species-rich clade among the crustacean order Decapoda and are divided into several major superfamilies. However, the monophyly of the superfamilies Ocypodoidea and Grapsoidea in their current compositions within the Brachyura remains inconclusive. In this study, the complete mitocho...

journal_title：Genomics

authors： Wang Z,Shi X,Guo H,Tang D,Bai Y,Wang Z

更新日期：2020-01-01 00:00:00

abstract：:One hundred nineteen YACs were assembled into 6 contigs spanning about 7.1 Mb of Xq28. The contigs were formatted with 65 STSs and 136 hybridization probes and were extensive enough to be aligned and oriented by published genetic linkage and somatic cell hybrid panel data. Selected YACs from the entire region were map...

journal_title：Genomics

authors： Palmieri G,Romano G,Ciccodicola A,Casamassimi A,Campanile C,Esposito T,Cappa V,Lania A,Johnson S,Reinbold R

更新日期：1994-11-01 00:00:00

abstract：:To increase the number of markers on distal mouse chromosome 4, knowledge of the synteny homology between this region and human chromosome 1p (HSA1p) was used to identify candidate homologous mouse genes. Ten probes corresponding to loci on human chromosome 1p were tested to reveal polymorphisms between C57BL/6 and DB...

journal_title：Genomics

authors： McClive PJ,Morahan G

更新日期：1994-09-01 00:00:00

abstract：:The desmogleins, together with the desmocollins, both members of the cadherin superfamily, are the adhesive proteins of the desmosome type of cell junction, characteristically found in epithelial cells. Three different human desmoglein isoforms are encoded by separate genes (DSG1, DSG2, and DSG3) located on chromosome...

journal_title：Genomics

authors： Simrak D,Cowley CM,Buxton RS,Arnemann J

更新日期：1995-01-20 00:00:00

abstract：:A rat genomic library was screened using a gastric H,K-ATPase beta-subunit cDNA probe, and two clones were identified. Restriction endonuclease mapping and Southern hybridization analyses indicated that each of these clones contains the entire H,K-ATPase beta-subunit gene. The nucleotide sequence was determined for th...

journal_title：Genomics

authors： Newman PR,Shull GE

更新日期：1991-10-01 00:00:00

abstract：:We have constructed a genetic linkage map of 17 markers on the long arm of human chromosome 21, including six genes and two anonymous loci with a variable number of tandem repeats. The estimated length of the map is 103 cM in males and 140 cM in females, assuming Kosambi interference. Recombination in females was appr...

journal_title：Genomics

authors： Warren AC,Slaugenhaupt SA,Lewis JG,Chakravarti A,Antonarakis SE

更新日期：1989-05-01 00:00:00

abstract：:A genetic basis for neural tube defects (NTD) is rarely doubted, but the genes involved have not yet been identified. This is partly due to a lack of suitable families on which to perform linkage analysis. An alternative approach is to use the many mouse genes that cause NTD as a means of isolating their human homolog...

journal_title：Genomics

authors： Stanier P,Henson JN,Eddleston J,Moore GE,Copp AJ

更新日期：1995-04-10 00:00:00

abstract：:For diseases in which thrombosis plays a pivotal role, such as virus-induced fulminant hepatitis, fetal loss syndrome, and xenograft rejection, the major procoagulant has remained elusive. Here we describe the isolation and functional expression of a distinct human prothrombinase, termed FGL2. The murine fgl2 gene pro...

journal_title：Genomics

authors： Yuwaraj S,Ding J,Liu M,Marsden PA,Levy GA

更新日期：2001-02-01 00:00:00

abstract：:The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. In this report, we present a corrected genomic sequence, genomic structure, and refined chromosomal location for KiSS-1. The genomic organization of the sequence revea...

journal_title：Genomics

authors： West A,Vojta PJ,Welch DR,Weissman BE

更新日期：1998-11-15 00:00:00

abstract：:We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcom...

journal_title：Genomics

authors： Fisher SE,Hatchwell E,Chand A,Ockenden N,Monaco AP,Craig IW

更新日期：1995-09-20 00:00:00

abstract：:Neurexins are neuron-specific vertebrate proteins with hundreds of differentially spliced isoforms that may function in synapse organization. We now show that Drosophila melanogaster and Caenorhabditis elegans express a single gene encoding only an alpha-neurexin, whereas humans and mice express three genes, each of w...

journal_title：Genomics

authors： Tabuchi K,Südhof TC

更新日期：2002-06-01 00:00:00

abstract：:Uroporphyrinogen-III (URO) synthase is the heme biosynthetic enzyme defective in congenital erythropoietic porphyria. The approximately 34-kb human URO-synthase gene (UROS) was isolated, and its organization and tissue-specific expression were determined. The gene had two promoters that generated housekeeping and eryt...

journal_title：Genomics

authors： Aizencang G,Solis C,Bishop DF,Warner C,Desnick RJ

更新日期：2000-12-01 00:00:00

abstract：:Recent studies on the molecular mechanisms controlling the mammalian cell cycle have disclosed a large family of cdc2-related serine/threonine kinases. Among this gene family, the PCTAIRE protein kinases comprise a distinct subfamily of unknown cellular function. To analyze the genomic structure and chromosomal locati...

journal_title：Genomics

authors： Okuda T,Valentine VA,Shapiro DN,Downing JR

更新日期：1994-05-01 00:00:00

abstract：:To identify genes important for taste receptor cell function, we analyzed the sequences and expression patterns of clones isolated from a mouse taste receptor cell-enriched cDNA library. Here, we report the analyses of two novel genes, Gpr113 and Trcg1. Gpr113 encodes a G-protein-coupled receptor belonging to family 2...

journal_title：Genomics

authors： LopezJimenez ND,Sainz E,Cavenagh MM,Cruz-Ithier MA,Blackwood CA,Battey JF,Sullivan SL

更新日期：2005-04-01 00:00:00

abstract：:The proximal albino deletions identify several functional regions on mouse Chromosome 7 critical for differentiation of mesoderm (mesd), development of the hypothalamus neuroendocrine lineage (nelg), and function of the liver (hsdr1). Using comparative mapping and genomic sequence analysis, we have identified four nov...

journal_title：Genomics

authors： Wines ME,Lee L,Katari MS,Zhang L,DeRossi C,Shi Y,Perkins S,Feldman M,McCombie WR,Holdener BC

更新日期：2001-02-15 00:00:00

abstract：:The genomic structure of the mouse gene encoding the CDEBP protein has been established. The protein was initially identified on the basis of its ability to bind the CDEI motif (GTCACATG). The same locus has been independently described under the name APLP2, on the basis of sequence similarities with the Amyloid Precu...

journal_title：Genomics

authors： Yang Y,Martin L,Cuzin F,Mattei MG,Rassoulzadegan M

更新日期：1996-07-01 00:00:00

abstract：:To better understand the molecular basis of corpus luteum (CL) development and function RNA-Seq was utilized to identify differentially expressed genes (DEGs) in porcine CL during different physiological stages of the estrous cycle viz. early (EL), mid (ML), late (LL) and regressed (R) luteal. Stage wise comparisons o...

journal_title：Genomics

authors： Bharati J,Mohan NH,Kumar S,Gogoi J,Kumar S,Jose B,Punetha M,Borah S,Kumar A,Sarkar M

更新日期：2021-01-01 00:00:00

abstract：:We have previously described the cDNA coding for a new lipoprotein receptor that contains domains closely related to the ligand-binding domain of the LDL receptor. We have now investigated the localization of the gene for this new receptor by hybridization of the cDNA to panels of rodent cells containing subsets of hu...

journal_title：Genomics

authors： Myklebost O,Arheden K,Rogne S,Geurts van Kessel A,Mandahl N,Herz J,Stanley K,Heim S,Mitelman F

更新日期：1989-07-01 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：:We report the isolation of cDNA clones for the mouse alpha 7 neuronal nicotinic acetylcholine receptor subunit (gene symbol Acra7), the only nicotinic receptor subunit known to bind alpha-bungarotoxin in mammalian brain. This gene may have relevance to nicotine sensitivity and to some electrophysiologic findings in sc...

journal_title：Genomics

authors： Orr-Urtreger A,Seldin MF,Baldini A,Beaudet AL

更新日期：1995-03-20 00:00:00

abstract：:Single-pass sequencing of randomly selected cDNA clones to generate expressed sequence tags (ESTs) has been widely used to identify novel genes and to study gene expression in a variety of tissues. We have generated 2244 ESTs from a human fetal heart library (GenBank Accession Nos. R30692-30774 and R56965-58824), whic...

journal_title：Genomics

authors： Hwang DM,Fung YW,Wang RX,Laurenssen CM,Ng SH,Lam WY,Tsui KW,Fung KP,Waye M,Lee CY

更新日期：1995-11-20 00:00:00