cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: evidence for a gene cluster of aquaporins at chromosome locus 12q13.

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：:Data for genome-wide association studies are being collected for a myriad of phenotypes. Many of these studies do not include control samples selected to reflect ancestry similar to the case samples. At the same time "control databases" are becoming available to be utilized as a common resource. These data are often g...

journal_title：Genomics

authors： Roeder K,Luca D

更新日期：2009-01-01 00:00:00

abstract：:The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, C...

journal_title：Genomics

authors： Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HH

更新日期：1989-04-01 00:00:00

abstract：:A key challenge in analyzing metagenomics data pertains to assembly of sequenced DNA fragments (i.e. reads) originating from various microbes in a given environmental sample. Several existing methodologies can assemble reads originating from a single genome. However, these methodologies cannot be applied for efficient...

journal_title：Genomics

authors： Reddy RM,Mohammed MH,Mande SS

更新日期：2014-02-01 00:00:00

abstract：:Using the human/hamster cell line UCTP2A-3, we have generated and isolated three hybrids, each containing a novel human chromosome 3p break. All chromosome 3 materials distal to the breaks were lost. Two of the breakpoints were produced using aphidicolin induction; the third breakpoint occurred spontaneously. The aphi...

journal_title：Genomics

authors： Wang ND,Testa JR,Smith DI

更新日期：1992-12-01 00:00:00

abstract：:DNA libraries often contain very large numbers of clones (from 1000 up to 700,000). Since at present it is impossible to analyze all of these clones, usually statistical samples comprising less than 100 clones are tested. The quality of the library is then assessed by linear extrapolation. Occasionally, full coverage ...

journal_title：Genomics

authors： Köllner M,Greulich KO

更新日期：1994-09-01 00:00:00

abstract：:TM4SF11 is only 102 kb from the chemokine gene cluster composed of SCYA22, SCYD1, and SCYA17 on chromosome 16q13. CKLF maps on chromosome 16q22. CKLFs have some characteristics associated with the CCL22/MDC, CX3CL1/fractalkine, CCL17/TARC, and TM4SF proteins. Bioinformatics based on CKLF2 cDNA and protein sequences in...

journal_title：Genomics

authors： Han W,Ding P,Xu M,Wang L,Rui M,Shi S,Liu Y,Zheng Y,Chen Y,Yang T,Ma D

更新日期：2003-06-01 00:00:00

abstract：:Immunoblotting of isoelectric focusing gels of plasma and direct genomic DNA sequencing have been used to characterize a mutation in apolipoprotein A-I associated with the familial amyloidotic polyneuropathy originally described by Van Allen in an Iowa kindred. An arginine for glycine substitution in apolipoprotein A-...

journal_title：Genomics

authors： Nichols WC,Gregg RE,Brewer HB Jr,Benson MD

更新日期：1990-10-01 00:00:00

abstract：:Receptors for cholcystokinin (CCK) can be pharmacologically classified into at least two distinct subtypes, CCKAR and CCKBR. In an effort to determine whether the CCKA and CCKB receptors may be associated with certain CNS or gastrointestinal diseases, we have localized and compared the human and mouse chromosomal loci...

journal_title：Genomics

authors： Huppi K,Siwarski D,Pisegna JR,Wank S

更新日期：1995-02-10 00:00:00

abstract：:To facilitate studies of the SRY gene, a 4741-bp portion of the sex-determining region of the human Y chromosome was sequenced and characterized. Two RNAs were found to hybridize to this genomic segment, one transcript deriving from SRY and the second cross-hybridizing to a pseudogene located 2.5 kb 5' of the SRY open...

journal_title：Genomics

authors： Behlke MA,Bogan JS,Beer-Romero P,Page DC

更新日期：1993-09-01 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：:The goat beta-globin cluster is composed of a triplicated four-gene set. A locus control region (LCR) containing elements homologous to 5'DNase I hypersensitive sites (HS) 1, 2, and 3 of the human beta-globin LCR has been identified at the 5' end of this locus. We determined 10.2 kb of nucleotide sequence from the goa...

journal_title：Genomics

authors： Li Q,Zhou B,Powers P,Enver T,Stamatoyannopoulos G

更新日期：1991-03-01 00:00:00

abstract：:Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that...

journal_title：Genomics

authors： Spitz F,Montavon T,Monso-Hinard C,Morris M,Ventruto ML,Antonarakis S,Ventruto V,Duboule D

更新日期：2002-04-01 00:00:00

abstract：:The Xist sequence has been proposed as a potential candidate for the X-inactivation center based both on its localization within the candidate region for the X-inactivation center in man and mouse and on its unique pattern of expression from the inactive X chromosome. We have cloned 550 kb of DNA surrounding the mouse...

journal_title：Genomics

authors： Heard E,Simmler MC,Larin Z,Rougeulle C,Courtier B,Lehrach H,Avner P

更新日期：1993-03-01 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：:The human lymphoid cell activation antigen CD39 is a known E-type apyrase that hydrolyzes extracellular ATP and ADP, a function important in homotypic adhesion, platelet aggregation, and removal by activated lymphocytes of the lytic effect of ATP. The recently identified putative rat homologue of CD39L1 has been shown...

journal_title：Genomics

authors： Chadwick BP,Frischauf AM

更新日期：1998-06-15 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：:Mcm proteins perform functions related to the regulation of eukaryotic genome replication. Previous work has shown that human cells contain at least five different Mcm proteins. We report now the amino acid sequence of an additional human Mcm protein, p105Mcm, and show that it is homologous to the Schizosaccharomyces ...

journal_title：Genomics

authors： Holthoff HP,Hameister H,Knippers R

更新日期：1996-10-01 00:00:00

abstract：:The large number of redundant sequences available in nucleotide databases provides a resource for the identification of polymorphisms. Expressed polymorphisms in X-linked genes can be used to determine the inactivation status of the genes, and polymorphisms in genes that are subject to inactivation can then be used as...

journal_title：Genomics

authors： Kutsche R,Brown CJ

更新日期：2000-04-01 00:00:00

abstract：:Expression of p107, a protein with homology to the retinoblastoma tumor suppressor (pRB), was monitored during murine development. Northern blot tissue surveys identified two transcripts of 4.9 and 2.4 kb that hybridized to a p107 cDNA clone. Expression of both transcripts was detected in fetal tissues, with particula...

journal_title：Genomics

authors： Kim KK,Soonpaa MH,Wang H,Field LJ

更新日期：1995-08-10 00:00:00

abstract：:The genes encoding human U2 small nuclear RNA are arrayed in tandem (the RNU2 locus) and have undergone concerted evolution for >35 Myr. Tandem organization of repetitive sequences may facilitate recombination that underlies concerted evolution, but could risk instability. Since DNA methylation plays a crucial role in...

journal_title：Genomics

authors： Jiang C,Liao D

更新日期：1999-12-15 00:00:00

abstract：:The proximal portion of mouse chromosome 1 harbors a variety of mutant loci that have yet to be characterized at the molecular level. We have constructed a library of genomic DNA fragments from the proximal portion of mouse chromosome 1 by microdissection and microcloning techniques, with the aim of generating genetic...

journal_title：Genomics

authors： Epstein DJ,Bardeesy N,Vidal S,Malo D,Weith A,Vekemans M,Gros P

更新日期：1994-01-01 00:00:00

abstract：:The association of the HLA class III region with many diseases motivates the investigation of unidentified genes in the 30-kb segment between complement component genes Bf and C4. RD, which codes for a putative RNA binding protein, is 205 bp downstream of Bf. SKI2W (HGMW-approved symbol SKIV2L), a DEVH-box gene probab...

journal_title：Genomics

authors： Yang Z,Shen L,Dangel AW,Wu LC,Yu CY

更新日期：1998-11-01 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：:To facilitate the practical application of highly efficient semiautomated methods for general application in genomic analyses, we have developed a fluorescence-based microsatellite marker resource. Ninety highly polymorphic microsatellite markers were combined to provide a rapid, accurate, and highly efficient initial...

journal_title：Genomics

authors： Levitt RC,Kiser MB,Dragwa C,Jedlicka AE,Xu J,Meyers DA,Hudson JR

更新日期：1994-11-15 00:00:00

abstract：:The frizzled (fz) locus in Drosophila is required for the transmission of polarity signals across the plasma membrane in epidermal cells, as well as to their neighboring cells in the developing wing. The identification of a tissue polarity gene from the fz locus in Drosophila melanogaster has been reported. The fz gen...

journal_title：Genomics

authors： Zhao Z,Lee CC,Baldini A,Caskey CT

更新日期：1995-05-20 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 report for the first time the fragmented mitochondrial (mt) genomes of two Pedicinus species: Pedicinus obtusus and Pedicinus badii, and compared them with the lice of humans and chimpanzees. Despite being congeneric, the two monkey lice are distinct from each other in mt karyotype. The variation in mt karyotype be...

journal_title：Genomics

authors： Fu YT,Dong Y,Wang W,Nie Y,Liu GH,Shao R

更新日期：2020-11-01 00:00:00

abstract：:Adipocyte triglyceride lipase (ATGL) and hormone-sensitive lipase (HSL) are intracellular lipases that mobilize triglycerides, the main energy source in mammals. Deletion of genes encoding ATGL (Pnpla2) or HSL (Lipe) in mice results in striking phenotypic differences, suggesting distinct roles for these lipases. The g...

journal_title：Genomics

authors： Pinent M,Hackl H,Burkard TR,Prokesch A,Papak C,Scheideler M,Hämmerle G,Zechner R,Trajanoski Z,Strauss JG

更新日期：2008-07-01 00:00:00

abstract：:The sensing of extracellular calcium is a general paradigm for regulating diverse cellular functions in many tissues. A calcium-sensing receptor (Casr) belonging to the metabotropic glutamate family of G-protein-coupled receptors (GPCR) that transduces the effects of extracellular calcium in the parathyroid gland as w...

journal_title：Genomics

authors： Hinson TK,Damodaran TV,Chen J,Zhang X,Qumsiyeh MB,Seldin MF,Quarles LD

更新日期：1997-10-15 00:00:00