A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse.

abstract：:We have mapped the mouse protein tyrosine phosphatase epsilon (PTP epsilon, gene symbol Ptpre) gene to the distal region of chromosome 7 by linkage analysis using two sets of multilocus genetic crosses. The human PTP epsilon gene (gene symbol PTPRE) was mapped to chromosome 10q26 by fluorescence in situ hybridization....

journal_title：Genomics

authors： Elson A,Kozak CA,Morton CC,Weremowicz S,Leder P

更新日期：1996-02-01 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

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：:Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. We recently reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disorder (J. Vesa et al., 1995, Nature 376: 58...

journal_title：Genomics

authors： Schriner JE,Yi W,Hofmann SL

更新日期：1996-06-15 00:00:00

abstract：:One of the major challenges in genome research is the identification of the complete set of genes in a genome. Alignments of expressed sequences (RNA and EST) with genomic sequences have been used to characterize genes. However, the number of alignments far exceeds the likely number of genes in a genome, suggesting th...

journal_title：Genomics

authors： Xie H,Diber A,Pollock S,Nemzer S,Safer H,Meloon B,Olson A,Hwang JJ,Endress GA,Savitsky K,Gill-More R

更新日期：2004-04-01 00:00:00

abstract：:The RBM (RNA-binding motif) gene family on the human Y chromosome encodes proteins with an RNA-binding domain. Its exclusive expression in germ cells and its partial deletion in some azoospermic or severely oligospermic males provide evidence of a role for RBM genes in spermatogenesis. There are approximately 30 RBM g...

journal_title：Genomics

authors： Chai NN,Salido EC,Yen PH

更新日期：1997-10-15 00:00:00

abstract：:Cardiac hypertrophy is an important risk factor for cardiac morbidity and mortality. To unravel the underlying pathogenic genetic pathways, we hybridized left ventricular RNA from Transverse Aortic Constriction mice at 48 h, 1 week, and 2, 3, and 8 weeks after surgery to microarrays containing a 15K fetal cDNA collect...

journal_title：Genomics

authors： van den Bosch BJ,Lindsey PJ,van den Burg CM,van der Vlies SA,Lips DJ,van der Vusse GJ,Ayoubi TA,Doevendans PA,Smeets HJ

更新日期：2006-10-01 00:00:00

abstract：:The beclin 1 (BECN1) gene encodes a 60-kDa coiled-coil protein that interacts with the prototypic apoptosis inhibitor Bcl-2. Previous studies indicate that beclin 1 maps to a region approximately 150 kb centromeric to BRCA1 on chromosome 17q21 that is commonly deleted in breast, ovarian, and prostate cancer. The compl...

journal_title：Genomics

authors： Aita VM,Liang XH,Murty VV,Pincus DL,Yu W,Cayanis E,Kalachikov S,Gilliam TC,Levine B

更新日期：1999-07-01 00:00:00

abstract：:For genetic linkage analysis of Japanese flounder, 160 doubled haploids (DH) were artificially produced using mitotic gynogenesis and were genotyped for 458 simple sequence repeat (SSR) markers, 101 of which show distortional segregation. The genetic linkage map was constructed by modifying recombination fractions bet...

journal_title：Genomics

authors： Zhao J,Han D,Shi K,Wang L,Gao J,Yang R

更新日期：2018-01-01 00:00:00

abstract：:The gene for familial chondrocalcinosis (MIM 118600; gene symbol CCAL2) has been localized to a 0.8-cM interval on the short arm of chromosome 5, between the polymorphic microsatellite markers D5S416 and D5S2114. We have undertaken the physical and transcript mapping of this interval, as well as regions telomeric to t...

journal_title：Genomics

authors： Rojas K,Serrano de la Peña L,Gallardo T,Simmons A,Nyce K,McGrath R,Considine E,Vasko AJ,Peterson E,Grady D,Cox R,Andrew LJ,Lovett M,Overhauser J,Williams CJ

更新日期：1999-12-01 00:00:00

abstract：:Neogenin was first identified in the chick embryo, and like a number of cell surface proteins of the immunoglobulin (Ig) superfamily, including N-CAM and L1 (generally called cell adhesion molecules or CAMs), it is expressed on growing nerve cells in the developing nervous system of vertebrate embryos. Neogenin is als...

journal_title：Genomics

authors： Vielmetter J,Chen XN,Miskevich F,Lane RP,Yamakawa K,Korenberg JR,Dreyer WJ

更新日期：1997-05-01 00:00:00

abstract：:The canine species, including wolf and jackal, have four digits on the hind limb. It was thought that an extra first digit on the hind limb, named dewclaw, was a hereditary defect. For genetically related canine pedigrees with 73 members with dewclaws, we carried out a genome-wide scan for linkage with microsatellites...

journal_title：Genomics

authors： Park K,Kang J,Park S,Ha J,Park C

更新日期：2004-02-01 00:00:00

abstract：:An arrayed library of human heterogeneous nuclear complementary (hnc) DNA was constructed from a somatic cell hybrid (M28) containing an i(12p) marker as the sole human chromosome. Heterogeneous nuclear (hn) RNA of M28 was used to synthesize first-strand hncDNA with a primer (RT) containing a random hexanucleotide at ...

journal_title：Genomics

authors： Baens M,Chaffanet M,Cassiman JJ,van den Berghe H,Marynen P

更新日期：1993-04-01 00:00:00

abstract：:Pulsed-field gel electrophoresis and flow dot-blot analysis have been used to construct a physical map of the q32-q34 region of chromosome 9, where one of the loci responsible for tuberous sclerosis (TSC1) has been mapped by genetic linkage. Five linked groups of markers have been defined by pulsed-field gel electroph...

journal_title：Genomics

authors： Harris RM,Carter NP,Griffiths B,Goudie D,Hampson RM,Yates JR,Affara NA,Ferguson-Smith MA

更新日期：1993-02-01 00:00:00

abstract：:Neurofibromatosis type 2 (NF2) is a dominantly inherited disease characterized by the development of bilateral vestibular schwannomas and meningiomas, which together represent 30% of primary brain tumors. The NF2 gene, which has recently been isolated, maps to the long arm of human chromosome 22. Using recombinant inb...

journal_title：Genomics

authors： Claudio JO,Malo D,Rouleau GA

更新日期：1994-05-15 00:00:00

abstract：:This study presented 96 cox1 and 76 cox3 genes of Amphioctopus neglectus populations. Three distinct lineages were formed from phylogenetic trees and networks constructed using haplotypes. Mitogenomes of A. neglectus-a and A. neglectus-b as the representatives of two lineages separated from population genetics were se...

journal_title：Genomics

authors： Tang Y,Zheng X,Liu H,Sunxie F

更新日期：2020-11-01 00:00:00

abstract：:Long sequencing reads offer unprecedented opportunities in analysis and reconstruction of complex genomic regions. However, the gain in sequence length is often traded for quality. Therefore, recently several approaches have been proposed (e.g. higher sequencing coverage, hybrid assembly or sequence correction) to enh...

journal_title：Genomics

authors： Mahmoud M,Zywicki M,Twardowski T,Karlowski WM

更新日期：2019-01-01 00:00:00

abstract：:Small cell lung cancer (SCLC) has been associated with a deletion of the short arm of chromosome 3. One SCLC cell line, H748, has an interstitial deletion of chromosome 3p and shows allele loss for the DNF15S2 locus detected by the probe lambda H3. Conservation of DNF15S2 sequences in mouse indicated that this human g...

journal_title：Genomics

authors： Naylor SL,Marshall A,Hensel C,Martinez PF,Holley B,Sakaguchi AY

更新日期：1989-04-01 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

abstract：:The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...

journal_title：Genomics

authors： Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JL

更新日期：2000-11-15 00:00:00

abstract：:The gene for mouse transition protein 1 (mTP1) was isolated, sequenced, and chromosomally mapped. The nucleotide sequence of 1895 bp of a 6.4-kb mTP1 genomic subclone was determined to include 788 bp of 5' flanking region, 564 bp of coding region including a 396-bp intron and a TAA stop codon, and 543 bp of 3' flankin...

journal_title：Genomics

authors： Yelick PC,Kozak C,Kwon YK,Seldin MF,Hecht NB

更新日期：1991-11-01 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：:We investigated a family with a duplication, dup(X)q26-q27, that was present in two brothers, their mother, and their maternal grandmother. The brothers carrying the duplication displayed spina bifida and panhypopituitarism, whereas a third healthy brother inherited the normal X chromosome. Preferential inactivation o...

journal_title：Genomics

authors： Hol FA,Schepens MT,van Beersum SE,Redolfi E,Affer M,Vezzoni P,Hamel BC,Karnes PS,Mariman EC,Zucchi I

更新日期：2000-10-15 00:00:00

abstract：:TrxG and PcG complexes play key roles in the epigenetic regulation of development through H3K4me3 and H3K27me3 modification at specific sites throughout the human genome, but how these sites are selected is poorly understood. We find that in pluripotent cells, clustered CpG-islands at genes predict occupancy of H3K4me...

journal_title：Genomics

authors： Orlando DA,Guenther MG,Frampton GM,Young RA

更新日期：2012-11-01 00:00:00

abstract：:We have constructed a genetic linkage map of 17 markers on the long arm of human chromosome 21, including six genes and two anonymous loci with a variable number of tandem repeats. The estimated length of the map is 103 cM in males and 140 cM in females, assuming Kosambi interference. Recombination in females was appr...

journal_title：Genomics

authors： Warren AC,Slaugenhaupt SA,Lewis JG,Chakravarti A,Antonarakis SE

更新日期：1989-05-01 00:00:00

abstract：:In extracellular fluids the insulin-like growth factors (IGFs) are bound to specific binding proteins (IGBPs). The genes for two members of this protein family have been mapped, the IGBP1 gene to human chromosomal region 7p14-p12 and the IGBP2 gene to region 2q33-q34. In this study, somatic cell hybrid analysis indica...

journal_title：Genomics

authors： Ehrenborg E,Larsson C,Stern I,Janson M,Powell DR,Luthman H

更新日期：1992-03-01 00:00:00

abstract：:Small-scale changes in gene order and orientation are common in plant genomes, even across relatively short evolutionary distances. We investigated the association of retrotransposons in and near rice gene pairs with gene pair conservation, inversion, rearrangement, and deletion in sorghum, maize, and Brachypodium. Co...

journal_title：Genomics

authors： Krom N,Ramakrishna W

更新日期：2012-05-01 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：:The promoter/5' flank sequence, cDNA sequence, and exon/intron structures of the human thrombospondin 3 (THBS3) gene have been determined. THBS3 cDNA clones were obtained by PCR amplification of human fetal lung cDNA using THBS3-specific primers. Analysis of cDNA and genomic sequences showed the THBS3 gene to be compo...

journal_title：Genomics

authors： Adolph KW,Long GL,Winfield S,Ginns EI,Bornstein P

更新日期：1995-05-20 00:00:00

abstract：:The intercellular adhesion molecules ICAM1 and ICAM2 are the cell-surface ligands for the lymphocyte function-associated antigen LFA-1 (CD11a/CD18) and are thought to mediate cell-cell adhesion interactions required by the immune system. However, differences in tissue distribution, inducibility of expression, and over...

journal_title：Genomics

authors： Sansom D,Borrow J,Solomon E,Trowsdale J

更新日期：1991-10-01 00:00:00