A 1.2-Mb YAC contig spans the quaking region.

abstract：:To establish syntenic relationships of phototransduction genes, we have mapped the genes encoding the alpha-, beta-, and gamma-subunits of rod cGMP phosphodiesterase (PDE) (PDEA, PDEB, PDEG), the alpha'-subunit of cone PDE (PDEA2), and the rod cGMP-gated channel (CNCG) to bovine syntenic groups. The rod cGMP PDE alpha...

journal_title：Genomics

authors： Gallagher DS Jr,Womack JE,Baehr W,Pittler SJ

更新日期：1992-11-01 00:00:00

abstract：:The human MAS proto-oncogene is situated at 6q25.3-q26, a region that is homologous to mouse chromosome 17 where two parentally imprinted genes (Mas and Igf2r) have previously been identified. We investigated the imprinting status of MAS in adult lesions to establish the imprinting status of this gene in humans, as ce...

journal_title：Genomics

authors： Miller N,McCann AH,O'Connell D,Pedersen IS,Spiers V,Gorey T,Dervan PA

更新日期：1997-12-15 00:00:00

abstract：:The search for the gene for choroideremia (MIM 30310), a rare retinal dystrophy, has been of great interest due to the existence of several choroideremia patients with well-defined structural chromosome aberrations, thus providing the basis for a reverse genetics approach to the isolation of this disease gene. This re...

journal_title：Genomics

authors： Merry DE,Lesko JG,Siu V,Flintoff WF,Collins F,Lewis RA,Nussbaum RL

更新日期：1990-04-01 00:00:00

abstract：:A simple and rapid strategy for restriction mapping based on sequence-specific triple-helix affinity capture (TAC) was developed. The strategy was applied to the analysis of cosmid clones by the construction of a new cosmid vector, ScosTriplex-II, containing two different triple-helix-forming sequences flanking the cl...

journal_title：Genomics

authors： Ji H,Francisco T,Smith LM,Guilfoyle RA

更新日期：1996-01-15 00:00:00

abstract：:We present a novel method, based on the hybridization of allele-specific oligonucleotide probes, that allows the specific detection of chromosome 21 alpha-satellite sequences. Absence of informative polymorphic markers from the centromeric region of chromosome 21 has constituted one of the difficulties in studying the...

journal_title：Genomics

authors： Maratou K,Siddique Y,Kessling AM,Davies GE

更新日期：1999-05-01 00:00:00

abstract：:The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events establish MAP1B as ...

journal_title：Genomics

authors： Brzustowicz LM,Kleyn PW,Boyce FM,Lien LL,Monaco AP,Penchaszadeh GK,Das K,Wang CH,Munsat TL,Ott J

更新日期：1992-08-01 00:00:00

abstract：:Members of the Janus (JAK) protein tyrosine kinase family including JAK3 have recently emerged as important components in cytokine signal transduction. Mutations of JAK3 have been found in a number of patients who present with severe combined immunodeficiency. To facilitate the further identification of JAK3-SCID pati...

journal_title：Genomics

authors： Riedy MC,Dutra AS,Blake TB,Modi W,Lal BK,Davis J,Bosse A,O'Shea JJ,Johnston JA

更新日期：1996-10-01 00:00:00

abstract：:Among its known functions, tumor suppressor gene p53 serves as a transcriptional regulator and mediates various signals through activation of downstream genes. We recently identified a novel gene, GML (glycosylphosphatidylinositol (GPI)-anchored molecule-like protein), whose expression is specifically induced by wildt...

journal_title：Genomics

authors： Kimura Y,Furuhata T,Urano T,Hirata K,Nakamura Y,Tokino T

更新日期：1997-05-01 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：:Ciliary neurotrophic factor (CNTF) has recently been found to be important for the survival of motor neurons and has shown activity in animal models of amyotrophic lateral sclerosis (ALS). CNTF therefore holds promise as a treatment for ALS, and it and its receptor (CNTFR) are candidates for a gene involved in familia...

journal_title：Genomics

authors： Donaldson DH,Britt DE,Jones C,Jackson CL,Patterson D

更新日期：1993-09-01 00:00:00

abstract：:The objective of this study was to identify gene expression differences in blood differences in children with autism (AU) and autism spectrum disorder (ASD) compared to general population controls. Transcriptional profiles were compared with age- and gender-matched, typically developing children from the general popul...

journal_title：Genomics

authors： Gregg JP,Lit L,Baron CA,Hertz-Picciotto I,Walker W,Davis RA,Croen LA,Ozonoff S,Hansen R,Pessah IN,Sharp FR

更新日期：2008-01-01 00:00:00

abstract：:Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have...

journal_title：Genomics

authors： Polymeropoulos MH,Xiao H,Glodek A,Gorski M,Adams MD,Moreno RF,Fitzgerald MG,Venter JC,Merril CR

更新日期：1992-03-01 00:00:00

abstract：:Human chromosome 11 harbors many genes of medical significance and cancer-related rearrangements. The availability of cloned DNA in cosmids and in yeast artificial chromosomes (YACs), combined with fluorescence in situ hybridization analysis, has led to the cloning of genes at sites of chromosomal breakpoints in acute...

journal_title：Genomics

authors： Selleri L,Giovannini M,Hermanson GG,Romo A,Quackenbush J,Penny L,Khristich JV,Evans GA

更新日期：1994-07-01 00:00:00

abstract：:A genetic linkage study of the RFLPs identified by nine DNA probes localized to the pericentromeric region and long arm of chromosome 17 has been undertaken in 16 families with von Recklinghausen neurofibromatosis (NF1). Close linkage has been shown with the markers CRI-L946 (D17S36), CRI-L581 (D17S37), p17H8 (D17Z1),...

journal_title：Genomics

authors： Upadhyaya M,Sarfarazi M,Huson SM,Stephens K,Broadhead W,Harper PS

更新日期：1987-12-01 00:00:00

abstract：:Formyl peptide receptors (FPRs) were firstly detected in immune cells where they act as key mediators of leukocyte chemotaxis, promoting the host defense against pathogens. Recently, three paralogs were reported in Homo sapiens (FPR1-3) and seven paralogs in Mus musculus (FPR1, FPRrs1-4, FPRrs6 and FPRrs7), but inform...

journal_title：Genomics

authors： Silva L,Mendes T,Antunes A

更新日期：2020-07-01 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：:Imbalanced protease activity has long been recognized in the progression of disease states such as cancer and inflammation. Serpins, the largest family of endogenous protease inhibitors, target a wide variety of serine and cysteine proteases and play a role in a number of physiological and pathological states. The exp...

journal_title：Genomics

authors： Badola S,Spurling H,Robison K,Fedyk ER,Silverman GA,Strayle J,Kapeller R,Tsu CA

更新日期：2006-08-01 00:00:00

abstract：:Aldehyde reductase (EC 1.1.1.2; AKR1A1) is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. To study the regulation of its expression, the human aldehyde reductase gene and promoter were cloned and characterized. The protein coding region consists of eight exons,...

journal_title：Genomics

authors： Barski OA,Gabbay KH,Bohren KM

更新日期：1999-09-01 00:00:00

abstract：:Rat CL-6 is the most highly insulin-induced gene in a liver cell line and is expressed in proliferating liver during regeneration and development. CL-6 is now denoted INSIG1 (insulin-induced gene 1). Human INSIG1 was isolated and found to be 80% identical to the rat gene within the translated region. It was located on...

journal_title：Genomics

authors： Peng Y,Schwarz EJ,Lazar MA,Genin A,Spinner NB,Taub R

更新日期：1997-08-01 00:00:00

abstract：:Protease nexin I (PNI) is the most important physiologic regulator of alpha-thrombin in tissues. PNI is highly expressed and developmentally regulated in the nervous system where it is concentrated at neuromuscular junctions and also central synapses in the hippocampus and striatum. Approximately 10% of identified pro...

journal_title：Genomics

authors： Carter RE,Cerosaletti KM,Burkin DJ,Fournier RE,Jones C,Greenberg BD,Citron BA,Festoff BW

更新日期：1995-05-01 00:00:00

abstract：:We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...

journal_title：Genomics

authors： Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

更新日期：1999-04-01 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：:Previous studies identified the gene encoding the erythrocyte membrane protein 4.2 (Epb4.2) as a candidate for the mouse mutation pallid (pa); Epb4.2 genetically colocalized near pa on mouse Chromosome 2, and a truncated Epb4.2 transcript was present in tissues derived from pallid mice. We report here evidence that Ep...

journal_title：Genomics

authors： Gwynn B,Korsgren C,Cohen CM,Ciciotte SL,Peters LL

更新日期：1997-06-15 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：:Gene expression variations (GEV) among different ethnic groups have been a subject matter for extensive study. Relatively less known is the extent of alternative splicing variations (ASV) in the context of ethnicity. We conducted a transcriptome sequencing study of 20 lymphoblastoid cell lines obtained from Caucasian ...

journal_title：Genomics

authors： Li JW,Lai KP,Ching AK,Chan TF

更新日期：2014-01-01 00:00:00

abstract：:Using a panel of patient cell lines with chromosomal breakpoints, we constructed a physical map for the short arm of human chromosome 11. We focused on 11p15, a chromosome band harboring at least 25 known genes and associated with the Beckwith-Wiedemann syndrome, several childhood tumors, and genomic imprinting. This ...

journal_title：Genomics

authors： Redeker E,Hoovers JM,Alders M,van Moorsel CJ,Ivens AC,Gregory S,Kalikin L,Bliek J,de Galan L,van den Bogaard R

更新日期：1994-06-01 00:00:00

abstract：:Imprinting is an epigenetic modification that is reprogrammed in the germ line and leads to the monoallelic expression of some genes. Imprinting involves DNA methylation. Maternal imprint is reset during oocyte growth and maturation. In vitro maturation (IVM) of oocytes may, therefore, interfere with imprint acquisiti...

journal_title：Genomics

authors： Borghol N,Lornage J,Blachère T,Sophie Garret A,Lefèvre A

更新日期：2006-03-01 00:00:00

abstract：:We describe a high-resolution radiation hybrid map of human chromosome 11q22-q23 containing the ataxia-telangiectasia (AT) disease gene loci. The order and intermarker distances of 32 chromosome 11q22-q23 markers were determined by a multipoint maximum likelihood method of analysis of the cosegregation of markers in 1...

journal_title：Genomics

authors： Richard CW 3rd,Cox DR,Kapp L,Murnane J,Cornelis F,Julier C,Lathrop GM,James MR

更新日期：1993-07-01 00:00:00

abstract：:Ultraconservation has been variously defined to describe sequences that have remained identical or nearly so over long periods of evolution to a degree that is higher than expected for sequences under typical constraints associated with protein-coding sequences, splice sites, or transcription factor binding sites. Mos...

journal_title：Genomics

authors： Rödelsperger C,Köhler S,Schulz MH,Manke T,Bauer S,Robinson PN

更新日期：2009-11-01 00:00:00

abstract：:The alpha 1 subunit genes encoding voltage-dependent Ca2+ channels are members of a gene family. We have used human brain cDNA probes to localize the neuronal isoform genes CACNL1A4 (alpha 1A), CACNL1A5 (alpha 1B), and CACNL1A6 (alpha 1E) to 19p13, 9q34, and 1q25-q31, respectively, using fluorescence in situ hybridiza...

journal_title：Genomics

authors： Diriong S,Lory P,Williams ME,Ellis SB,Harpold MM,Taviaux S

更新日期：1995-12-10 00:00:00