The human interleukin-11 receptor alpha gene (IL11RA): genomic organization and chromosome mapping.

abstract：:An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the ret...

journal_title：Genomics

authors： Roderick TH,Chang B,Hawes NL,Heckenlively JR

更新日期：1997-06-15 00:00:00

abstract：:Aspartylglucosaminuria (AGU) is a recessively inherited lysosomal disease caused by inadequate aspartylglucosaminidase (AGA) activity. The disease is prevalent in the genetically isolated Finnish population. We have used a new method, solid-phase minisequencing, to determine the frequency of two missense mutations in ...

journal_title：Genomics

authors： Syvänen AC,Ikonen E,Manninen T,Bengtström M,Söderlund H,Aula P,Peltonen L

更新日期：1992-03-01 00:00:00

abstract：:Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings. Causative mutations have been identified in several sarcomeric genes, including the cardiac myosin binding protein C (MYBPC3) gene. Heritable HCM also exists in a large-animal model, the cat, and w...

journal_title：Genomics

authors： Meurs KM,Norgard MM,Ederer MM,Hendrix KP,Kittleson MD

更新日期：2007-08-01 00:00:00

abstract：:DNA hybridization was used to isolate a 2.04-kb cDNA encoding carboxyl ester lipase (CEL) from a mouse lactating mammary gland, lambda gt10 cDNA library. The cDNA sequence translated into a protein of 599 amino acids, including 20 amino acids of a putative signal peptide. Comparison of the deduced amino acid sequence ...

journal_title：Genomics

authors： Lidmer AS,Kannius M,Lundberg L,Bjursell G,Nilsson J

更新日期：1995-09-01 00:00:00

abstract：:Physical maps are important resources both in sequencing and in functional analyses of large genomes. Global contig-building approaches are regarded to be more efficient relative to the cumulative outcome of scattered and more localized physical mapping studies accompanying positional cloning. This work is part of an ...

journal_title：Genomics

authors： Klysik J,Cai WW,Yang C,Bradley A

更新日期：1999-11-15 00:00:00

abstract：:Variation at MHC Class II-DQA locus in riverine and swamp buffaloes (Bubu) has been explored in this study. Through sequencing of buffalo DQA, 48 nucleotide variants identified from 17 individuals, reporting 42 novel alleles, including one pseudogene. Individual animal displayed two to seven variants, suggesting the p...

journal_title：Genomics

authors： Mishra SK,Niranjan SK,Singh R,Kumar P,Kumar SL,Banerjee B,Kataria RS

更新日期：2020-11-01 00:00:00

abstract：:Understanding differences in the repertoire of orthologous gene pairs is vital for interpretation of pharmacological and physiological experiments if conclusions are conveyed between species. Here we present a comprehensive dataset for G protein-coupled receptors (GPCRs) in both human and mouse with a phylogenetic roa...

journal_title：Genomics

authors： Bjarnadóttir TK,Gloriam DE,Hellstrand SH,Kristiansson H,Fredriksson R,Schiöth HB

更新日期：2006-09-01 00:00:00

abstract：UNLABELLED:Pancreatic cancer is one of the most aggressive malignant tumors, mainly due to an aggressive metastasis spreading. In recent years, circulating tumor cells became associated to tumor metastasis. Little is known about their expression profiles. The aim of this study was to develop a complete workflow making ...

journal_title：Genomics

authors： Görner K,Bachmann J,Holzhauer C,Kirchner R,Raba K,Fischer JC,Martignoni ME,Schiemann M,Alunni-Fabbroni M

更新日期：2015-07-01 00:00:00

abstract：:Madin-Darby canine kidney(MDCK) cells can be used to prepare cell-based influenza vaccines; however, little is known regarding the effect of lncRNA regulatorson tumorigenicity. In the present study, two cell lines with low tumorigenicity were screened from highly tumorigenic MDCK cell lines using monoclonal cell techn...

journal_title：Genomics

authors： Qiao Z,Yang D,Liu L,Liu Z,Wang J,He D,Wu H,Wang J,Ma Z

更新日期：2020-03-01 00:00:00

abstract：:SLUG is a member of the snail family of zinc finger proteins. It is involved in epithelial to mesenchyme cell transition during neurulation and plays a role in limb bud development. We have isolated and described the human SLUG gene by sequencing a region spanning 4034 bp. The human SLUG gene contains three exons. The...

journal_title：Genomics

authors： Cohen ME,Yin M,Paznekas WA,Schertzer M,Wood S,Jabs EW

更新日期：1998-08-01 00:00:00

abstract：:The desmocollins and desmogleins are members of the cadherin family of adhesive proteins present in the desmosome type of cell-cell junction. All of the known desmoglein and desmocollin isoforms, which have differing tissue and developmental distributions, are coded by very closely linked genes at 18q12.1. We have pre...

journal_title：Genomics

authors： Cowley CM,Simrak D,Marsden MD,King IA,Arnemann J,Buxton RS

更新日期：1997-06-01 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：:By screening an expressed sequence tag database, we identified a novel human gene, SLC7A4, encoding a solute carrier family 7 [cationic amino acid (CAA) CAT-4 transporter, y+ system] member 4. The SLC7A4 cDNA is 2325 nt long and includes 78, 1911, and 336 nt in the 5' noncoding, coding, and 3'-noncoding regions, respe...

journal_title：Genomics

authors： Sperandeo MP,Borsani G,Incerti B,Zollo M,Rossi E,Zuffardi O,Castaldo P,Taglialatela M,Andria G,Sebastio G

更新日期：1998-04-15 00:00:00

abstract：:Regions of DNA homology between human and marmoset (Callithrix jacchus) chromosomes have been demonstrated using fluorescence in situ hybridization. All 24 chromosome paints and two centromere repeat sequences from Homo sapiens (HSA) have been annealed to previously G-banded metaphase spreads of Callithrix jacchus. Al...

journal_title：Genomics

authors： Sherlock JK,Griffin DK,Delhanty JD,Parrington JM

更新日期：1996-04-15 00:00:00

abstract：:Isozyme and restriction fragment length polymorphism (RFLP) analyses of backcross progeny, recombinant inbred strains, and congenic strains of mice positioned eight genetic markers with respect to the Lsh-Ity-Bcg disease resistance locus. Allelic isoforms of Idh-1 and Pep-3 and RFLPs detected by Southern hybridization...

journal_title：Genomics

authors： Mock B,Krall M,Blackwell J,O'Brien A,Schurr E,Gros P,Skamene E,Potter M

更新日期：1990-05-01 00:00:00

abstract：:Data from family studies demonstrating RH:MYCL linkage (zeta = 4.07 at theta = 0.09) in paternal meioses are presented. Although positive, MYCL:PGM1 lods are not of the magnitude of those for RH:MYCL. Taken together, these results are consistent with the physical assignment of MYCL to 1p32. Furthermore, evidence to su...

journal_title：Genomics

authors： Zelinski T,Verville G,White L,Hamerton JL,McAlpine PJ,Lewis M

更新日期：1988-02-01 00:00:00

abstract：:Acid sphingomyelinase (ASM; HGMW-approved symbol, SMPD1) is the lysosomal phosphodiesterase that hydrolyzes sphingomyelin to ceramide and phosphocholine. The deficient activity of this enzyme results in Types A and B Niemann-Pick disease (NPD). The full-length cDNA encoding human ASM has been isolated and characterize...

journal_title：Genomics

authors： Schuchman EH,Levran O,Pereira LV,Desnick RJ

更新日期：1992-02-01 00:00:00

abstract：:Rhodopsin kinase (RK) is a conserved component of the light adaptation and recovery pathways shared among rod and cone photoreceptors of a variety of species. To gain insight into transcriptional mechanisms driving RK and potentially other genes of similar spatial profile, the components and the interactions of the hi...

journal_title：Genomics

authors： Young JE,Kasperek EM,Vogt TM,Lis A,Khani SC

更新日期：2007-08-01 00:00:00

abstract：:The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors. The EWS gene spans about 40 kb of DNA and is encoded by 17 exons. The nucleotide sequence of the exons is identical to that ...

journal_title：Genomics

authors： Plougastel B,Zucman J,Peter M,Thomas G,Delattre O

更新日期：1993-12-01 00:00:00

abstract：:S-lac lectins are a family of soluble lactose-binding proteins thought to function in the control of cell growth. We now report the chromosomal mapping of two members of the family, termed L-14-I and L-14-II, to the q12-q13 region of human chromosome 22, suggesting the possibility of a cluster of genes for lactose-bin...

journal_title：Genomics

authors： Mehrabian M,Gitt MA,Sparkes RS,Leffler H,Barondes SH,Lusis AJ

更新日期：1993-02-01 00:00:00

abstract：:GPC3, the gene modified in the Simpson-Golabi-Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5' of the translational start site. The Xq26.1 region containing GPC3 as the only known gene has been extended to > 900 kb by sequence a...

journal_title：Genomics

authors： Huber R,Crisponi L,Mazzarella R,Chen CN,Su Y,Shizuya H,Chen EY,Cao A,Pilia G

更新日期：1997-10-01 00:00:00

abstract：:Most diseases are complex in that they are caused by the joint action of multiple factors, both genetic and environmental. Over the past few decades, the mathematical convenience of logistic regression has served to enshrine the multiplicative model, to the point where many epidemiologists believe that departure from ...

journal_title：Genomics

authors： Weinberg CR

更新日期：2009-01-01 00:00:00

abstract：:An area of 500 kb at the proximal end of the polycystic kidney disease 1 (PKD1) region has been mapped in detail, with 260 kb cloned in cosmids. The area cloned from normal individuals contains two homologous but divergent regions each of 75 kb, including the previously described marker 26-6. Pulsed-field gel electrop...

journal_title：Genomics

authors： Harris PC,Thomas S,MacCarthy AB,Stallings RL,Breuning MH,Jenne DE,Fink TM,Buckle VJ,Ratcliffe PJ,Ward CJ

更新日期：1994-09-15 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：:The region of the dystrophin gene containing introns 45-50 is characterized by a high rate of recombination events that give rise to large deletions causing dystrophinopathy. The nucleotide sequence of this intronic region has recently been released in GenBank. With the aim of further understanding the mechanism favor...

journal_title：Genomics

authors： Toffolatti L,Cardazzo B,Nobile C,Danieli GA,Gualandi F,Muntoni F,Abbs S,Zanetti P,Angelini C,Ferlini A,Fanin M,Patarnello T

更新日期：2002-11-01 00:00:00

abstract：:Insulin-like growth factor binding proteins (IGFBPs) constitute a family of at least six secreted proteins that bind insulin-like growth factors I and II (IGF-I and -II) and are capable of modifying IGF actions on target cells. We previously have purified an approximately 29-kDa IGFBP that is secreted by myoblasts dur...

journal_title：Genomics

authors： Kou K,Jenkins NA,Gilbert DJ,Copeland NG,Rotwein P

更新日期：1994-04-01 00:00:00

abstract：:The ADH7 gene encoding human Class IV (sigma) alcohol dehydrogenase (ADH) was cloned from a Caucasian genomic DNA library and characterized. It has nine exons and eight introns that span about 22 kb, and its intron insertion is identical to that of the other ADH genes (ADH1 to ADH5). The nucleotide sequences of the ex...

journal_title：Genomics

authors： Yokoyama H,Baraona E,Lieber CS

更新日期：1996-01-15 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：:Laboratory mouse strains are known to have emerged from recent interbreeding between individuals of Mus musculus isolated populations. As a result of this breeding history, the collection of polymorphisms observed between laboratory mouse strains is likely to harbor the effects of natural selection between reproductiv...

journal_title：Genomics

authors： Reuveni E,Birney E,Gross CT

更新日期：2010-04-01 00:00:00

abstract：:Brachyuran crabs comprise the most species-rich clade among the crustacean order Decapoda and are divided into several major superfamilies. However, the monophyly of the superfamilies Ocypodoidea and Grapsoidea in their current compositions within the Brachyura remains inconclusive. In this study, the complete mitocho...

journal_title：Genomics

authors： Wang Z,Shi X,Guo H,Tang D,Bai Y,Wang Z

更新日期：2020-01-01 00:00:00