Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.

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：:Monocyte chemotactic proteins (MCPs) form a subfamily of chemokines that recruit leukocytes to sites of inflammation and that may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. With the use of degenerate primers that were based on CC chemokine consensus sequence...

journal_title：Genomics

authors： Van Coillie E,Fiten P,Nomiyama H,Sakaki Y,Miura R,Yoshie O,Van Damme J,Opdenakker G

更新日期：1997-03-01 00:00:00

abstract：:Fluorescence in situ hybridization mapping of fully integrated human BAC clones to primate chromosomes, combined with precise breakpoint localization by PCR analysis of flow-sorted chromosomes, was used to analyze the evolutionary rearrangements of the human 3q21.3-syntenic region in orangutan, siamang gibbon, and sil...

journal_title：Genomics

authors： Yue Y,Grossmann B,Ferguson-Smith M,Yang F,Haaf T

更新日期：2005-01-01 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：:We isolated the human homologue, SUPT5H, of the yeast transcription factor, SPT5. The human homologue is 1088 aa long compared to 1063 aa for the yeast gene. SUPT5H maps to 19q13, near the ryanodine receptor. Like its family member, SUPT6H, and like yeast SPT5, SUPT5H has a very acidic 5' domain. Like its family membe...

journal_title：Genomics

authors： Chiang PW,Fogel E,Jackson CL,Lieuallen K,Lennon G,Qu X,Wang SQ,Kurnit DM

更新日期：1996-12-15 00:00:00

abstract：:Human chromosome 20 is conserved as a single segment on distal mouse chromosome (Chr) 2. PPGB, protective protein for beta-galactosidase, maps to human chromosome 20q13.1, and from linkage analysis of two interspecific crosses incorporating the mouse reciprocal translocations, T(2;8)2Wa (T2Wa) and T(2;16)28H (T28H), w...

journal_title：Genomics

authors： Williamson CM,Dutton ER,Beechey CV,Peters J

更新日期：1994-07-01 00:00:00

abstract：:A somatic cell hybrid panel, consisting of 25 cell lines, has been developed to localize loci subregionally on chromosome 22. Over 300 markers in the form of STSs or hybridization probes have been assigned to one of 24 unique regions or "bins" using this panel. This ordered collection of markers will aid in the assemb...

journal_title：Genomics

authors： Budarf ML,Eckman B,Michaud D,McDonald T,Gavigan S,Buetow KH,Tatsumura Y,Liu Z,Hilliard C,Driscoll D,Goldmuntz E,Meese E,Zwarthoff EC,Williams S,McDermid H,Dumanski JP,Biegel J,Bell CJ,Emanuel BS

更新日期：1996-07-15 00:00:00

abstract：:The acyl-CoA dehydrogenases (ACDs) are a family of mitochondrial enzymes that oxidize straight chain or branched chain acyl-CoAs in the metabolism of fatty acids or branched chain amino acids. Deficiencies in members of this gene family are important causes of human disease. A cDNA encoding the human precursor for a n...

journal_title：Genomics

authors： Rozen R,Vockley J,Zhou L,Milos R,Willard J,Fu K,Vicanek C,Low-Nang L,Torban E,Fournier B

更新日期：1994-11-15 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：: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 key regulatory elements for PKD2 transcription remain unclear. To identify these core elements, we characterized porcine PKD2 promoter with bioinformatics and molecular tools and found porcine PKD2 promoter bearing typical features of enriched CpG and less TATA. Further studies demonstrated that the core region wa...

journal_title：Genomics

authors： Wang Q,Han G,Ye J,Gao X,Niu H,Zhao J,Chai Y,Li N,Yin H

更新日期：2014-12-01 00:00:00

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：:In response to nutrient deprivation, the ubiquitous Gram-negative soil bacterium Myxococcus xanthus undergoes a well-characterized developmental response, resulting in the formation of a multicellular fruiting body. The center of the fruiting body consists of myxospores; surrounding this structure are rod-shaped perip...

journal_title：Genomics

authors： Whitfield DL,Sharma G,Smaldone GT,Singer M

更新日期：2020-03-01 00:00:00

abstract：:Retinitis pigmentosa (RP) is a heterogeneous genetic disorder with autosomal dominant, autosomal recessive, and X-linked forms. We previously mapped an additional arRP locus to chromosome 6p21 (RP14) in a single extended kinship from the Dominican Republic. Aided by a second linked RP pedigree from the same region of ...

journal_title：Genomics

authors： Banerjee P,Lewis CA,Kleyn PW,Shugart YY,Ross BM,Penchaszadeh GK,Ott J,Jacobson SG,Gilliam TC,Knowles JA

更新日期：1998-03-01 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：:Hematopoietic cell phosphatase (Hcph) was identified by amplification of conserved protein tyrosine phosphatase sequences from a myeloid cell line and is predominantly expressed in hematopoietic cells. Hcph is unique in containing two, tandemly repeated, src-homology 2 domains in the amino terminal region of the phosp...

journal_title：Genomics

authors： Yi T,Gilbert DJ,Jenkins NA,Copeland NG,Ihle JN

更新日期：1992-11-01 00:00:00

abstract：:The imprinted U2af1-rs1 gene that maps to mouse chromosome 11 is predominately expressed from the paternal allele. We examined the methylation of genomic sequences in and around the U2af1-rs1 locus to establish the extent of sequence modifications that accompanied the silencing of the maternal allele. The analysis of ...

journal_title：Genomics

authors： Shibata H,Yoshino K,Sunahara S,Gondo Y,Katsuki M,Ueda T,Kamiya M,Muramatsu M,Murakami Y,Kalcheva I,Plass C,Chapman VM,Hayashizaki Y

更新日期：1996-07-01 00:00:00

abstract：:A significant fraction of the human genome is composed of various types of transposable elements, which are divided into two broad classes based on their mehcanism of transposition: via an RNA intermediate (retroelements) or via a DNA intermediate (DNA transposons). The retroelements, which include endogenous retrovir...

journal_title：Genomics

authors： Hughes JF,Coffin JM

更新日期：2002-11-01 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 deletion of the short arm of chromosome 5 is associated with the cri-du-chat syndrome. In addition, loss of this portion of a chromosome is a common cytogenetic marker in a number of malignancies. However, to date, no genes associated with these disorders have been identified. Physical maps are the first step in i...

journal_title：Genomics

authors： Gersh M,Goodart SA,Overhauser J

更新日期：1994-12-01 00:00:00

abstract：:Specific probes derived from the human genes that complement the mutations of two independent temperature-sensitive (ts) mutants of the BHK-21 hamster cell line were used to determine the chromosomal locations of the loci in the human genome. The ts11 gene, which complements a mutation that blocks progression through ...

journal_title：Genomics

authors： Greco A,Ittmann M,Barletta C,Basilico C,Croce CM,Cannizzaro LA,Huebner K

更新日期：1989-04-01 00:00:00

abstract：:A fluorescence in situ hybridization (FISH) physical map of 14 polymorphic loci on chromosome 10 covers over 62% of the fractional length of chromosome 10. The positions of three previously mapped loci are confirmed, nine more are refined, and two new loci are cytogenetically mapped. The order of loci determined by FI...

journal_title：Genomics

authors： Lichter JB,Difilippantonio MJ,Pakstis AJ,Goodfellow PJ,Ward DC,Kidd KK

更新日期：1993-05-01 00:00:00

abstract：:Deletion of the long arm of chromosome 6 (6q) is one of the most common chromosomal abnormalities in human hematological malignancies. Two distinct regions of minimal deletion have been identified by loss of heterozygosity studies at 6q25 to 6q27 (RMD-1) and at 6q21 to 6q23 (RMD-2), suggesting the presence of one or m...

journal_title：Genomics

authors： Jackson A,Panayiotidis P,Foroni L

更新日期：1998-05-15 00:00:00

abstract：:Transcripts related to the human carcinoembryonic antigen were found in mRNA isolated from both dimethylbenzanthracene-induced and mouse mammary tumor virus-induced mammary tumors. A cDNA library was prepared from a dimethylbenzanthracene-induced tumor, and a clone was isolated by hybridization with a human carcinoemb...

journal_title：Genomics

authors： Robbins J,Robbins PF,Kozak CA,Callahan R

更新日期：1991-07-01 00:00:00

abstract：:Methyl-CpG binding domain proteins (MBD) can specifically bind to methylated CpG sites and play important roles in epigenetic gene regulation. Here, we identified and functionally characterized the MBD protein in Tribolium castaneum. T. castaneum genome encodes only one MBD protein: TcMBD2/3. RNA interference targetin...

journal_title：Genomics

authors： Song X,Zhang Y,Zhong Q,Zhan K,Bi J,Tang J,Xie J,Li B

更新日期：2020-05-01 00:00:00

abstract：:Aberrant DNA methylation is induced at specific promoter CpG islands (CGIs) in contrast with mutations. The specificity is influenced by genome architecture and epigenetic factors, but their relationship is still unknown. In this study, we isolated promoter CGIs susceptible and resistant to aberrant methylation induct...

journal_title：Genomics

authors： Takeshima H,Yamashita S,Shimazu T,Ushijima T

更新日期：2011-09-01 00:00:00

abstract：:3',5'-Cyclic guanosine monophosphate is the intracellular second messenger regulating phototransduction in mammals. The level of cGMP in photoreceptor cells is controlled by the cGMP-hydrolyzing enzyme cGMP phosphodiesterase and the cGMP-producing enzyme guanylate cyclase. Identification of a photoreceptor-specific gu...

journal_title：Genomics

authors： Oliveira L,Miniou P,Viegas-Pequignot E,Rozet JM,Dollfus H,Pittler SJ

更新日期：1994-07-15 00:00:00

abstract：:The high-affinity receptor for interleukin-11 (IL-11) is composed of two subunits, IL-11 receptor alpha chain (IL-11R alpha) and gp130, the common subunit of the interleukin-6 (IL-6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor, and oncostatin M receptors. The IL-11 receptor-specific alpha chain sha...

journal_title：Genomics

authors： Chérel M,Sorel M,Apiou F,Lebeau B,Dubois S,Jacques Y,Minvielle S

更新日期：1996-02-15 00:00:00

abstract：:Mefloquine is associated with adverse neurological effects that are mediated via unknown mechanisms. Recent in vitro studies have shown that mefloquine disrupts neuronal calcium homeostasis via liberation of the endoplasmic reticulum (ER) store and induction of calcium influx across the plasma membrane. In the present...

journal_title：Genomics

authors： Dow GS,Caridha D,Goldberg M,Wolf L,Koenig ML,Yourick DL,Wang Z

更新日期：2005-11-01 00:00:00

abstract：:Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a...

journal_title：Genomics

authors： Heus HC,Hing A,van Baren MJ,Joosse M,Breedveld GJ,Wang JC,Burgess A,Donnis-Keller H,Berglund C,Zguricas J,Scherer SW,Rommens JM,Oostra BA,Heutink P

更新日期：1999-05-01 00:00:00