A radiation hybrid map of human chromosome 11q22-q23 containing the ataxia-telangiectasia disease locus.

abstract：:The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding EL...

journal_title：Genomics

authors： Robinson WP,Waslynka J,Bernasconi F,Wang M,Clark S,Kotzot D,Schinzel A

更新日期：1996-05-15 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

abstract：:Heterotrimeric G proteins, composed of alpha, beta, and gamma subunits, transduce signals from transmembrane receptors to a wide range of intracellular effectors. The G protein gamma subunits, which play an indispensible role in this communication, constitute a large and diverse multigene family. Using an interspecifi...

journal_title：Genomics

authors： Downes GB,Gilbert DJ,Copeland NG,Gautam N,Jenkins NA

更新日期：1999-04-01 00:00:00

abstract：:We characterize the cDNA and genomic structure of NSBP1, and demonstrate that it is a nuclear protein and the homologue of mouse Nsbp1, which is known to encode a nucleosomal binding and transcriptional activating protein related to the HMG-14/-17 chromosomal proteins. The encoded NSBP1 protein has 86% amino acid simi...

journal_title：Genomics

authors： King LM,Francomano CA

更新日期：2001-01-15 00:00:00

abstract：:The chromosomal locations and the tissue expression patterns of the human transcriptional adaptors TADA2L and GCN5L2 have been determined. Northern blot analysis across a range of human tissues revealed that both the TADA2L and the GCN5L2 mRNAs are expressed to varying degrees in all tissue types. Furthermore, in most...

journal_title：Genomics

authors： Carter KC,Wang L,Shell BK,Zamir I,Berger SL,Moore PA

更新日期：1997-03-15 00:00:00

abstract：BACKGROUND:Copy number variations (CNV) are regional deviations from the normal autosomal bi-allelic DNA content. While germline CNVs are a major contributor to genomic syndromes and inherited diseases, the majority of cancers accumulate extensive "somatic" CNV (sCNV or CNA) during the process of oncogenetic transforma...

journal_title：Genomics

authors： Gao B,Baudis M

更新日期：2020-09-01 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：:To elucidate the functional significance of genome multiplication in somatic tissues, we performed a large-scale analysis of ploidy-associated changes in expression of non-tissue-specific (i.e., broadly expressed) genes in the heart and liver of human and mouse (6585 homologous genes were analyzed). These species have...

journal_title：Genomics

authors： Anatskaya OV,Vinogradov AE

更新日期：2007-01-01 00:00:00

abstract：:Next generation sequencing techniques produce enormous data but its analysis and visualization remains a big challenge. To address this, we have developed Genome Annotator Light(GAL), a Docker based package for genome analysis and data visualization. GAL integrated several existing tools and in-house programs inside a...

journal_title：Genomics

authors： Panda A,Chaudhari NM,Tripathy S

更新日期：2020-01-01 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：:Homozygous transgenic mice from line A4 have an early-onset progressive neuromuscular disorder characterized by paralysis of the rear limbs, muscle atrophy, and lethality by 4 weeks of age. The transgene insertion site was mapped to distal chromosome 15 close to the locus motor endplate disease (med). The sequence of ...

journal_title：Genomics

authors： Kohrman DC,Plummer NW,Schuster T,Jones JM,Jang W,Burgess DL,Galt J,Spear BT,Meisler MH

更新日期：1995-03-20 00:00:00

abstract：:Interspecific somatic cell hybrids containing single human chromosomes are valuable reagents for localization of cloned genes and DNA fragments to specific chromosomes, for the development of chromosome-specific libraries, and for generation of hybrid cell lines containing subchromosomal regions. A CHO somatic cell hy...

journal_title：Genomics

authors： Mares A Jr,Ledbetter SA,Ledbetter DH,Roberts R,Hejtmancik JF

更新日期：1991-09-01 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：: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：:Most members of the large family of rhodopsin-like G-protein-coupled receptors possess an evolutionarily conserved Asp-Arg-Tyr (DRY) motif in the C-terminal region of the third transmembrane domain. Mutations of residues within this motif usually abolish receptor function and, when they occur naturally, can even cause...

journal_title：Genomics

authors： Römpler H,Yu HT,Arnold A,Orth A,Schöneberg T

更新日期：2006-06-01 00:00:00

abstract：:The mouse protein kinase CK2 beta subunit gene (Csnk2b) is composed of seven exons contained within 7874 bp. The exon and intron lengths extend from 76 to 321 and 111 to 1272 bp, respectively. The lengths of the murine coding exons correspond exactly to the lengths of the exons in the human CK2 beta gene. Both genes c...

journal_title：Genomics

authors： Boldyreff B,Issinger OG

更新日期：1995-09-01 00:00:00

abstract：:Synucleins are a family of small intracellular proteins expressed mainly in the nervous system. The involvement of synucleins in neurodegeneration and malignancy has been demonstrated, but the physiological functions of these proteins remain elusive. Further studies including generation of animals with modified persyn...

journal_title：Genomics

authors： Alimova-Kost MV,Ninkina NN,Imreh S,Gnuchev NV,Adu J,Davies AM,Buchman VL

更新日期：1999-03-01 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：:Hes2 encodes a mammalian basic helix-loop-helix transcriptional repressor homologous to the products of Drosophila hairy and Enhancer of split. Here, we isolated and characterized the mouse Hes2 gene. This gene consists of four exons, and all the introns are located within the protein-coding region at positions homolo...

journal_title：Genomics

authors： Nishimura M,Isaka F,Ishibashi M,Tomita K,Tsuda H,Nakanishi S,Kageyama R

更新日期：1998-04-01 00:00:00

abstract：:The procollagen C-proteinase enhancer (PCPE) is a glycoprotein that potentiates enzymatic cleavage of the type I procollagen C-propeptide by bone morphogenetic protein-1 (BMP-1). The human PCPE gene (PCOLCE) was previously mapped to 7q22, an area frequently disrupted in uterine leiomyomata, while disruption of the rat...

journal_title：Genomics

authors： Scott IC,Clark TG,Takahara K,Hoffman GG,Greenspan DS

更新日期：1999-01-15 00:00:00

abstract：:The Dlk1-Dio3 imprinted domain on mouse chromosome 12 contains IG-DMR and Gtl2-DMR, whose methylation patterns are established in the germline and after fertilization, respectively. In this study, we determine that acquisition of DNA methylation at the paternal allele of the Gtl2-DMR is initiated after the blastocyst ...

journal_title：Genomics

authors： Sato S,Yoshida W,Soejima H,Nakabayashi K,Hata K

更新日期：2011-08-01 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：:We have isolated and characterized a novel cDNA coding for a highly hydrophobic protein (B5) from a fetal mouse mandibular condyle cDNA library. The full-length mouse B5 cDNA is 3095 nucleotides long and contains a potential open reading frame coding for a protein of 705 amino acids with a calculated molecular weight ...

journal_title：Genomics

authors： Hong G,Deleersnijder W,Kozak CA,Van Marck E,Tylzanowski P,Merregaert J

更新日期：1996-02-01 00:00:00

abstract：:Six of the human minisatellites detected by DNA fingerprint probes have been localized by in situ hybridization to human metaphase chromosomes. These hypervariable loci are not dispersed at random in the human genome, but show preferential, though not exclusive, localization to terminal G-bands of human autosomes. Two...

journal_title：Genomics

authors： Royle NJ,Clarkson RE,Wong Z,Jeffreys AJ

更新日期：1988-11-01 00:00:00

abstract：:Linkage analysis with DNA probes C11P11 and pi 227 is reported in six Scottish families with familial adenomatous polyposis. Two families were informative for C11P11 and all six were at least partly informative for pi 227. Two C11P11-apc and two pi 227-apc recombinants were identified and one of these was recombinant ...

journal_title：Genomics

authors： Dunlop MG,Steel CM,Wyllie AH,Bird CC,Evans HJ

更新日期：1989-08-01 00:00:00

abstract：:Single nucleotide polymorphism (SNP) interactions can explain the missing heritability of common complex diseases. Many interaction detection methods have been proposed in genome-wide association studies, and they can be divided into two types: population-based and family-based. Compared with population-based methods,...

journal_title：Genomics

authors： Liu J,Yu G,Ren Y,Guo M,Wang J

更新日期：2019-09-01 00:00:00

abstract：:Triple negative breast cancer (TNBC) is more prevalent in African Americans (AAs), has a more aggressive clinical course including a higher mortality rate and an increased occurrence of metastases. This study was designed to determine if racial differences at the molecular level might explain the more aggressive pheno...

journal_title：Genomics

authors： Chang CS,Kitamura E,Johnson J,Bollag R,Hawthorn L

更新日期：2019-12-01 00:00:00

abstract：:The complete nucleotide sequence of murine beta-glucuronidase (GUS) mRNA has been compiled from three overlapping cloned cDNAs and a single GUS-specific genomic clone. The sequence is composed of 2455 nucleotides, exclusive of the poly(A) tail. The 5' and 3' untranslated regions contain 12 and 499 bases, respectively,...

journal_title：Genomics

authors： Gallagher PM,D'Amore MA,Lund SD,Ganschow RE

更新日期：1988-04-01 00:00:00

abstract：:Amaranth has been proposed as an exceptional alternative for food security and climate change mitigation. Information about the distribution, abundance, or specificity of miRNAs in amaranth species is scare. Here, small RNAs from seedlings under control, drought, heat, and cold stress conditions of the Amaranthus hypo...

journal_title：Genomics

authors： Martínez Núñez M,Ruíz Rivas M,Gregorio Jorge J,Hernández PFV,Luna Suárez S,de Folter S,Chávez Montes RA,Rosas Cárdenas FF

更新日期：2021-01-01 00:00:00

abstract：:4-Hydroxyphenylpyruvic acid dioxygenase (HPD) is an important enzyme in tyrosine catabolism in most organisms. The activity of this enzyme is expressed mainly in the liver and developmentally regulated in mammals, and a genetic deficiency in this enzyme in humans and mice leads to hereditary tyrosinemia type 3. Using ...

journal_title：Genomics

authors： Awata H,Endo F,Matsuda I

更新日期：1994-10-01 00:00:00