Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia.

abstract：:Random forests (RF) is a popular tree-based ensemble machine learning tool that is highly data adaptive, applies to "large p, small n" problems, and is able to account for correlation as well as interactions among features. This makes RF particularly appealing for high-dimensional genomic data analysis. In this articl...

journal_title：Genomics

authors： Chen X,Ishwaran H

更新日期：2012-06-01 00:00:00

abstract：:Portions of 16 chromosome 21 NotI linking clones were sequenced. These linking clone sequences represent sequence-tagged restriction sites that are potentially useful for finding genes and for finer genome mapping and sequencing. All of the clones were G+C rich (54 to 83%). CpG and GpC dinucleotide frequencies were ve...

journal_title：Genomics

authors： Zhu Y,Cantor CR,Smith CL

更新日期：1993-11-01 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：:We carried out a cross species cattle-sheep array comparative genome hybridization experiment to identify copy number variations (CNVs) in the sheep genome analysing ewes of Italian dairy or dual-purpose breeds (Bagnolese, Comisana, Laticauda, Massese, Sarda, and Valle del Belice) using a tiling oligonucleotide array ...

journal_title：Genomics

authors： Fontanesi L,Beretti F,Martelli PL,Colombo M,Dall'olio S,Occidente M,Portolano B,Casadio R,Matassino D,Russo V

更新日期：2011-03-01 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：:This study has investigated the transcriptional regulation of the Emr1 gene in murine macrophages and defined an enhancer element within the proximal promoter that is necessary for Emr1 expression in myeloid cells. This element consists of an extended purine-rich sequence (PuRS) of 83 consecutive purine residues conta...

journal_title：Genomics

authors： O'Reilly D,Addley M,Quinn C,MacFarlane AJ,Gordon S,McKnight AJ,Greaves DR

更新日期：2004-12-01 00:00:00

abstract：:PKD1, the gene for the chromosome 16-linked form of autosomal dominant polycystic kidney disease, has previously been genetically mapped to an interval bounded by the polymorphic loci Fr3-42/EKMDA2 distally and O327hb/O90a proximally. More recently, 26.6PROX was identified as the closest proximal flanking locus. We se...

journal_title：Genomics

authors： Somlo S,Wirth B,Germino GG,Weinstat-Saslow D,Gillespie GA,Himmelbauer H,Steevens L,Coucke P,Willems P,Bachner L

更新日期：1992-05-01 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：:The TLE genes are the human homologues of Drosophila groucho, a member of the Notch signaling pathway. This pathway controls a number of different cell-fate choices in invertebrates and vertebrates. We are interested in investigating the functions of the TLE gene family during epithelial determination and carcinogenes...

journal_title：Genomics

authors： Liu Y,Dehni G,Purcell KJ,Sokolow J,Carcangiu ML,Artavanis-Tsakonas S,Stifani S

更新日期：1996-01-01 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：:A gene for the autosomal recessive kidney disorder juvenile nephronophthisis (NPH) is located on chromosome 2q between markers D2S1893 and D2S1888. Recently, the presence of large homozygous deletions was described in the majority of NPH patients. We constructed an integrated YAC/PAC contig of 54 markers and 30 PAC cl...

journal_title：Genomics

authors： Nothwang HG,Stubanus M,Adolphs J,Hanusch H,Vossmerbäumer U,Denich D,Kübler M,Mincheva A,Lichter P,Hildebrandt F

更新日期：1998-01-15 00:00:00

abstract：:Grapsoidea and Ocypodoidea, two of the most abundant and economically important groups in Brachyura, are of great commercial value to fisheries and aquaculture. However, the taxonomy of Ocypodoidea and Grapsoidea has long been highly disputed. Previous studies have investigated this problem through phylogenetic analys...

journal_title：Genomics

authors： Wang Q,Tang D,Guo H,Wang J,Xu X,Wang Z

更新日期：2020-01-01 00:00:00

abstract：:We have used probes from the human genes PI, PIL, and AACT (alpha 1-antitrypsin, alpha 1-antitrypsin-related sequence, and alpha 1-antichymotrypsin) to make a pulsed-field map of the surrounding region of 14q31-32. We have discovered that the PI-PIL gene cluster is only 220 kb away from the AACT gene and that it is or...

journal_title：Genomics

authors： Sefton L,Kelsey G,Kearney P,Povey S,Wolfe J

更新日期：1990-07-01 00:00:00

abstract：:A method was recently developed for the specific amplification of human DNA sequences from interspecific somatic cell hybrids by the polymerase chain reaction (PCR) using primers directed to Alu, a short interspersed repeat element (SINE). We now show human-specific amplification using a primer to the 3' end of the hu...

journal_title：Genomics

authors： Ledbetter SA,Nelson DL,Warren ST,Ledbetter DH

更新日期：1990-03-01 00:00:00

abstract：:Human chromosome 20 is conserved as a single segment on distal mouse chromosome (Chr) 2. PPGB, protective protein for beta-galactosidase, maps to human chromosome 20q13.1, and from linkage analysis of two interspecific crosses incorporating the mouse reciprocal translocations, T(2;8)2Wa (T2Wa) and T(2;16)28H (T28H), w...

journal_title：Genomics

authors： Williamson CM,Dutton ER,Beechey CV,Peters J

更新日期：1994-07-01 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：: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：:We have analyzed a dense set of single-nucleotide polymorphisms (SNPs) and microsatellites spanning the T-helper cytokine gene cluster (interleukins 3, 4, 5, 9, and 13, interferon regulatory factor-1, colony-stimulating factor-2, and T-cell transcription factor-7) on 5q31 and the gene encoding the interleukin-4 recept...

journal_title：Genomics

authors： Kauppi P,Lindblad-Toh K,Sevon P,Toivonen HT,Rioux JD,Villapakkam A,Laitinen LA,Hudson TJ,Kere J,Laitinen T

更新日期：2001-09-01 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：:The gene coding for the alpha 5 chian of type IV collagen (alpha 5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3' end of the alpha 5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this g...

journal_title：Genomics

authors： Boye E,Vetrie D,Flinter F,Buckle B,Pihlajaniemi T,Hamalainen ER,Myers JC,Bobrow M,Harris A

更新日期：1991-12-01 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：:Pulmonary surfactant consists of a complex mixture of phospholipids and several proteins essential to normal respiratory function. Two of the surfactant proteins, SP-A and SP-D, appear to have lectin-like activity relevant to the local phagocytic defense. Using polymerase chain reaction (PCR)-based somatic cell hybrid...

journal_title：Genomics

authors： Kölble K,Lu J,Mole SE,Kaluz S,Reid KB

更新日期：1993-08-01 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 desmogleins, together with the desmocollins, both members of the cadherin superfamily, are the adhesive proteins of the desmosome type of cell junction, characteristically found in epithelial cells. Three different human desmoglein isoforms are encoded by separate genes (DSG1, DSG2, and DSG3) located on chromosome...

journal_title：Genomics

authors： Simrak D,Cowley CM,Buxton RS,Arnemann J

更新日期：1995-01-20 00:00:00

abstract：:Silencing of tissue-specific gene expression in mammalian somatic cell hybrids is a well-documented epigenetic phenomenon which is both profound (involving a large number of genes) and enigmatic. Our aim was to utilize whole-genome microarray analyses to determine the true extent of gene silencing on a genomic level. ...

journal_title：Genomics

authors： Bulla GA,Luong Q,Shrestha S,Reeb S,Hickman S

更新日期：2010-12-01 00:00:00

abstract：:A mouse inositol polyphosphate 1-phosphatase (Inpp1) cDNA fragment (348 bp) was amplified by means of the polymerase chain reaction using a mouse cDNA library as template with primers designed from published human and bovine cDNA sequences. We isolated a 1623-bp full-length Inpp1 cDNA from a mouse brain cDNA library u...

journal_title：Genomics

authors： Okabe I,Nussbaum RL

更新日期：1995-11-20 00:00:00

abstract：:Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population. As a part of the successful cloning of MCOLN1, we constructed a 1.4-Mb physical map containing 14 BACs and 4 cosmids that enco...

journal_title：Genomics

authors： Acierno JS Jr,Kennedy JC,Falardeau JL,Leyne M,Bromley MC,Colman MW,Sun M,Bove C,Ashworth LK,Chadwick LH,Schiripo T,Ma S,Goldin E,Schiffmann R,Slaugenhaupt SA

更新日期：2001-04-15 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 aim of this study was to elucidate the roles played by circular RNAs (circRNAs) in the mechanism underlying submandibular gland (SMG) dysfunction in hypertension. We employed RNA-seq to analyze the circRNA and mRNA expression profiles of SMGs. Seventy-five differentially expressed (DE) circRNAs and 691 DE mRNAs we...

journal_title：Genomics

authors： Shen ZJ,Han YC,Nie MW,Xiang RL,Xie HZ

更新日期：2021-01-01 00:00:00

abstract：:We isolated and analyzed 19 NotI site-containing clones specific for human chromosome 21. The overall process consisted of selective isolation of NotI site-containing clones from flow-sorted chromosome 21 libraries, selection of independent clones by their restriction patterns and nucleotide sequences, and assignment ...

journal_title：Genomics

authors： Hattori M,Toyoda A,Ichikawa H,Ito T,Ohgusu H,Oishi N,Kano T,Kuhara S,Ohki M,Sakaki Y

更新日期：1993-07-01 00:00:00