Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element.

abstract：:Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherit...

journal_title：Genomics

authors： Kwasnicka-Crawford DA,Carson AR,Roberts W,Summers AM,Rehnström K,Järvelä I,Scherer SW

更新日期：2005-08-01 00:00:00

abstract：:The DBA/2J inbred strain of mice is used extensively in hearing research, yet little is known about the genetic basis for its early onset, progressive hearing loss. To map underlying genetic factors we analyzed recombinant inbred strains and linkage backcrosses. Analysis of 213 mice from 31 BXD recombinant inbred stra...

journal_title：Genomics

authors： Johnson KR,Longo-Guess C,Gagnon LH,Yu H,Zheng QY

更新日期：2008-10-01 00:00:00

abstract：:We have established a method for amplifying and obtaining large quantities of chromosome-specific DNA by linker/adaptor ligation and polymerase chain reaction (PCR). Small quantities of DNA isolated from flow cytometry-sorted chromosomes 17 and 21 were digested with MboI, ligated to a linker/adaptor, and then subjecte...

journal_title：Genomics

authors： Chang KS,Vyas RC,Deaven LL,Trujillo JM,Stass SA,Hittelman WN

更新日期：1992-02-01 00:00:00

abstract：:Through an exhaustive homology-based approach, coupled with manual efforts, we annotated and characterized 128 sensory neuron membrane proteins (SNMPs) from genomes and transcriptomes of 22 coleopteran species, with 107 novel candidates. Remarkably, we discovered, for the first time, a novel SNMP group, defined as Gro...

journal_title：Genomics

authors： Zhao YJ,Li GC,Zhu JY,Liu NY

更新日期：2020-07-01 00:00:00

abstract：:Estrogen receptor-like 1a (ESRL1a; same as estrogen receptor-related orphan receptors, ERR1) belongs to a subfamily of the nuclear receptor superfamily. We have previously shown that human ESRL1a modulates estrogen responsiveness of the lactoferrin gene promoter in transiently transfected endometrial carcinoma RL95-2 ...

journal_title：Genomics

authors： Shi H,Shigeta H,Yang N,Fu K,O'Brian G,Teng CT

更新日期：1997-08-15 00:00:00

abstract：:Na(+)-coupled HCO(3)(-) transporters (NCBTs) of the SLC4 family play critical roles in pH regulation as well as transepithelial HCO(3)(-) transport. We systematically examined, in the mouse reproductive tract tissues, the mRNA expression of five NCBTs as well as the five NBCe1 (Slc4a4) variants NBCe1-A through -E, of ...

journal_title：Genomics

authors： Liu Y,Xu JY,Wang DK,Wang L,Chen LM

更新日期：2011-08-01 00:00:00

abstract：:Eight genes located on the short arm of the human X chromosome (MAOA, SYN1, OAT, OTC, CYBB, DMD, ZFX, POLA) have been mapped in several marsupial species by cell hybrid analysis and/or in situ hybridization using probes derived from human cDNA. Seven appear to be autosomal in all marsupial species examined. The eighth...

journal_title：Genomics

authors： Spencer JA,Sinclair AH,Watson JM,Graves JA

更新日期：1991-10-01 00:00:00

abstract：:Of 311 expressed sequenced tags (ESTs) mapped to single human chromosomes by analysis of a monochromosome somatic cell hybrid panel, 29 were localized to chromosome 3. Analysis of somatic cell hybrid lines containing different regions of chromosome 3 has enabled the regional assignment of these 29 ESTs to 13 of 23 int...

journal_title：Genomics

authors： Jones MH,Tirosvoutis KN,Bowgen C,Davey P,Moore S,Naylor S,Affara NA

更新日期：1998-11-01 00:00:00

abstract：:We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. Ten affected males whom we examined had primarily macular atrophy causing progressive loss of v...

journal_title：Genomics

authors： Ayyagari R,Demirci FY,Liu J,Bingham EL,Stringham H,Kakuk LE,Boehnke M,Gorin MB,Richards JE,Sieving PA

更新日期：2002-08-01 00:00:00

abstract：:FISH techniques have opened new possibilities for high-resolution genome mapping. Effective utilization of these techniques for the rapid orientation and ordering of adjacent and overlapping probes as well as for the characterization of long-range genomic contigs would facilitate physical mapping and positional clonin...

journal_title：Genomics

authors： Heiskanen M,Hellsten E,Kallioniemi OP,Mäkelä TP,Alitalo K,Peltonen L,Palotie A

更新日期：1995-11-01 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：:By optimizing the primer-annealing temperature in a rapid air cycling procedure, two human DNA sequences encoding centromere proteins B and C (CENP-B and CENP-C) were specifically amplified without any detectable amplification of highly homologous rodent DNA sequences. Using a panel of rodent/human hybrid DNA, the gen...

journal_title：Genomics

authors： Sugimoto K,Yata H,Himeno M

更新日期：1993-07-01 00:00:00

abstract：:Multiple inositol polyphosphate phosphatase is the only enzyme known to hydrolyze the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate. We have previously demonstrated that the chick homolog of multiple inositol polyphosphate phosphatase, designated HiPER1, has a role in growth plate chond...

journal_title：Genomics

authors： Chi H,Tiller GE,Dasouki MJ,Romano PR,Wang J,O'keefe RJ,Puzas JE,Rosier RN,Reynolds PR

更新日期：1999-03-15 00:00:00

abstract：:The primary structure of the human microsomal glutathione S-transferase gene (GST12) was determined by genomic cloning. The gene structure of GST12 spans 12.8 kb and consists of four exons and three introns. The coding sequence resides on exons 2, 3, and 4. Sequencing of the exons revealed two nucleotide differences c...

journal_title：Genomics

authors： Kelner MJ,Stokely MN,Stovall NE,Montoya MA

更新日期：1996-08-15 00:00:00

abstract：:Homeodomain transcription factors control cell fates during the development of all animals. The paired-like subfamily of homeodomain proteins has been particularly implicated in ocular development in different species. In this paper we report the cDNA sequence, genomic structure, localization, and expression data of a...

journal_title：Genomics

authors： Semina EV,Mintz-Hittner HA,Murray JC

更新日期：2000-01-15 00:00:00

abstract：:This communication describes a software tool that enables one to simulate large-scale regional mapping using an ordered shotgun sequencing approach. The analysis routines that are provided yield an estimate of the depth of coverage of the physical map, the largest contig formed, and the number of gaps remaining at any...

journal_title：Genomics

authors： Singh GB,Krawetz SA

更新日期：1995-01-20 00:00:00

abstract：:The human genome contains a group of gene families whose members map within the same regions of chromosomes 1, 6, and 9. The number of gene families involved and their pronounced clustering to the same areas of the genome indicate that their mapping relationship is nonrandom. By combining mapping data and sequence inf...

journal_title：Genomics

authors： Katsanis N,Fitzgibbon J,Fisher EM

更新日期：1996-07-01 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：:The domestic dog is increasingly being recognized as a useful model for human disease. The aim of this study was to conduct the first detailed whole-genome comparison of human and dog using bidirectional heterologous chromosome painting (reciprocal Zoo-FISH) analysis. We used whole-chromosome paint probes produced fro...

journal_title：Genomics

authors： Breen M,Thomas R,Binns MM,Carter NP,Langford CF

更新日期：1999-10-15 00:00:00

abstract：:The use of short tandem repeat polymorphisms (STRPs) as marker loci for linkage analysis is becoming increasingly important due to their large numbers in the human genome and their high degree of polymorphism. Fluorescence-based detection of the STRP pattern with an automated DNA sequencer has improved the efficiency ...

journal_title：Genomics

authors： Oetting WS,Lee HK,Flanders DJ,Wiesner GL,Sellers TA,King RA

更新日期：1995-12-10 00:00:00

abstract：:In our previous studies, diploid and triploid hybrids have been detected from the hybridization of Epinephelus coioides♀ × E. lanceolatus♂. The triploid groupers have been found to be delayed in gonadal development, but the mechanism remains poorly understood. In this study, we examined the gonadal development, assaye...

journal_title：Genomics

authors： Xiao L,Wang D,Guo Y,Tang Z,Liu Q,Li S,Zhang Y,Lin H

更新日期：2019-05-01 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：:Full-length coding sequences of two novel human cadherin cDNAs were obtained by sequence analysis of several EST clones and 5' and 3' rapid amplification of cDNA ends (RACE) products. Exons for a third cDNA sequence were identified in a public-domain human genomic sequence, and the coding sequence was completed by 3' ...

journal_title：Genomics

authors： Kools P,Van Imschoot G,van Roy F

更新日期：2000-09-15 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：:Defects in the human lysosomal acid lipase gene are responsible for cholesteryl ester storage disease (CESD) and Wolman disease. Exon skipping as the cause for CESD has been demonstrated. We present here a summary of the exon structure of the entire human lysosomal acid lipase gene consisting of 10 exons, together wit...

journal_title：Genomics

authors： Aslanidis C,Klima H,Lackner KJ,Schmitz G

更新日期：1994-03-15 00:00:00

abstract：:Talin is a high-molecular-weight cytoskeletal protein, localized at cell-extracellular matrix associations known as focal contacts. In these regions, talin is thought to link integrin receptors to the actin cytoskeleton. Talin plays a key role in the assembly of actin filaments and in spreading and migration of variou...

journal_title：Genomics

authors： Ben-Yosef T,Francomano CA

更新日期：1999-12-01 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 role of hyaluronan in cardiac growth has become evident, previously shown by increased myocardial levels of hyaluronan in a rat model of cardiac hypertrophy. To further investigate the role of hyaluronan and regulation of its synthesis in cardiac hypertrophy, quantitative measurements of myocardial hyaluronan conc...

journal_title：Genomics

authors： Hellman U,Mörner S,Engström-Laurent A,Samuel JL,Waldenström A

更新日期：2010-08-01 00:00:00

abstract：:Regions of the genome showing high evolutionary stability are often conserved as a result of functional constraints. Conversely, more variable regions are likely to represent DNA with no functional or structural importance. However, as in the case of immunologically important regions, sequence divergence does not alwa...

journal_title：Genomics

authors： Bowcock A,Cavalli-Sforza L

更新日期：1991-10-01 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