SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population.

abstract：:The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leve...

journal_title：Genomics

authors： Wall DP,Esteban FJ,Deluca TF,Huyck M,Monaghan T,Velez de Mendizabal N,Goñí J,Kohane IS

更新日期：2009-02-01 00:00:00

abstract：:LBR (lamin B receptor) is an integral protein of the inner nuclear membrane encoded by a gene on human chromosome 1q42.1. LBR has a nucleoplasmic, amino-terminal domain of approximately 200 amino acids followed by a carboxyl-terminal domain similar in sequence to yeast and plant sterol reductases. We have determined t...

journal_title：Genomics

authors： Holmer L,Pezhman A,Worman HJ

更新日期：1998-12-15 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative condition, some types of which (notably CMT4A) are caused by mutations in the GDAP1 gene that encodes a protein of unknown molecular function implicated in regulation of mitochondrial fission. Here we present for the first time a functional analysis of...

journal_title：Genomics

authors： Ratajewski M,Pulaski L

更新日期：2009-12-01 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：:DNA primase is an essential replication protein that catalyzes the synthesis of oligoribonucleotide primers. DNA primase, consisting of two subunits (p49 and p58), plays a key role in both the initiation of DNA replication and the synthesis of Okazaki fragments for lagging strand synthesis. We mapped the locations of ...

journal_title：Genomics

authors： Shiratori A,Okumura K,Nogami M,Taguchi H,Onozaki T,Inoue T,Ando T,Shibata T,Izumi M,Miyazawa H

更新日期：1995-07-20 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：: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：: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：:Through an exhaustive homology-based approach, coupled with manual efforts, we annotated and characterized 128 sensory neuron membrane proteins (SNMPs) from genomes and transcriptomes of 22 coleopteran species, with 107 novel candidates. Remarkably, we discovered, for the first time, a novel SNMP group, defined as Gro...

journal_title：Genomics

authors： Zhao YJ,Li GC,Zhu JY,Liu NY

更新日期：2020-07-01 00:00:00

abstract：:The closely linked proline-rich protein (Prp) genes, coding for abundant salivary proteins, are located on distal mouse chromosome 6. They are part of a conserved linkage group that is represented on human chromosome 12p. Two other markers, Ea-10 and Es-12, that were previously unassigned to a chromosome are closely l...

journal_title：Genomics

authors： Azen EA,Davisson MT,Cherry M,Taylor BA

更新日期：1989-10-01 00:00:00

abstract：:We present a rapid and efficient method for the isolation of minisatellite loci from human DNA. The method combines cloning a size-selected fraction of human MboI DNA fragments in a charomid vector with hybridization screening of the library in ordered array. Size-selection of large MboI fragments enriches for the lon...

journal_title：Genomics

authors： Armour JA,Povey S,Jeremiah S,Jeffreys AJ

更新日期：1990-11-01 00:00:00

abstract：:Chromosomal locations have been assigned to seven members of the TGF-beta superfamily using an interspecific mouse backcross. Probes for the Tgfb-1, -2, and -3, Bmp-2a and -3, and Vgr-1 genes recognized only single loci, whereas the Bmp-2b probe recognized two independently segregating loci (designated Bmp-2b1 and Bmp...

journal_title：Genomics

authors： Dickinson ME,Kobrin MS,Silan CM,Kingsley DM,Justice MJ,Miller DA,Ceci JD,Lock LF,Lee A,Buchberg AM

更新日期：1990-03-01 00:00:00

abstract：:The Drosophila melanogaster small optic lobes gene (sol) is required for normal development of the neuropiles of the medulla and lobula complexes of the adult optic lobes. The predicted protein products of sol and its human homologue SOLH contain zinc-finger-like repeats, a calpain-like protease domain, and a C-termin...

journal_title：Genomics

authors： Kamei M,Webb GC,Heydon K,Hendry IA,Young IG,Campbell HD

更新日期：2000-02-15 00:00:00

abstract：:The avian embryo develops within a specialized biological container (eggshell) that contains crucial nutritional compartments (albumen, yolk). We analyzed the transcriptome of ovary and three segments of oviduct, including magnum, isthmus and uterus in the chicken during egg formation. RNA-Seq libraries (42 in total) ...

journal_title：Genomics

authors： Yin Z,Lian L,Zhu F,Zhang ZH,Hincke M,Yang N,Hou ZC

更新日期：2020-01-01 00:00:00

abstract：:The gene encoding activation-induced cytidine deaminase (AID), a member of the cytidine deaminase family, was isolated from a murine B cell lymphoma line, CH12F3-2, induced by combined stimulation of TGF-beta, IL-4, and CD40L. We have isolated the human orthologue of mouse AID cDNA, which has an open reading frame of ...

journal_title：Genomics

authors： Muto T,Muramatsu M,Taniwaki M,Kinoshita K,Honjo T

更新日期：2000-08-15 00:00:00

abstract：:This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of chromosome 9. A total of 124 markers were typed in the CEPH family DNAs by 14 contributing laboratories; of these, 42 loci are ordered on the map with likelihood support of at least 1000:1. The uniquely placed markers incl...

journal_title：Genomics

authors： Attwood J,Chiano M,Collins A,Donis-Keller H,Dracopoli N,Fountain J,Falk C,Goudie D,Gusella J,Haines J

更新日期：1994-01-15 00:00:00

abstract：:Analysis of the exon-intron organization of the human dystrophin gene has been hampered by its enormous size. By using a YAC-based exon mapping approach and long PCR, we have succeeded in defining the size of the gene and its organization. Our results, compared with data on the distribution of deletion breakpoints by ...

journal_title：Genomics

authors： Nobile C,Marchi J,Nigro V,Roberts RG,Danieli GA

更新日期：1997-10-15 00:00:00

abstract：:Tandem repetitive sequences are DNA motifs common in the genomes of eukaryotic species and are often embedded in heterochromatic regions. In most eukaryotes, ribosomal genes, as well as centromeres and telomeres or subtelomeres, are associated with abundant tandem arrays of repetitive sequences and typically represent...

journal_title：Genomics

authors： Zhang D,Yang Q,Ding Y,Cao X,Xue Y,Cheng Z

更新日期：2008-08-01 00:00:00

abstract：:MicroRNAs (miRNAs) are small, non-coding RNAs that regulate gene expression at the post-transcriptional level. Emerging evidence suggests that differential miRNA expression is associated with viral infection and cancer. Marek's disease virus infection induces lymphoma in chickens. However, the host defense response ag...

journal_title：Genomics

authors： Tian F,Luo J,Zhang H,Chang S,Song J

更新日期：2012-03-01 00:00:00

abstract：:The ST2 gene is a member of the IL-1 receptor family and is hypothesized to be involved in helper T cell function, but its functional ligand and physiological role remain unknown. We have cloned the human ST2L cDNA that encodes a distinct type of membrane-bound ST2 protein. The predicted 556-amino-acid sequence showed...

journal_title：Genomics

authors： Li H,Tago K,Io K,Kuroiwa K,Arai T,Iwahana H,Tominaga S,Yanagisawa K

更新日期：2000-08-01 00:00:00

abstract：:Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient. Antibodies directed against the carboxy-terminus failed to identify any cross-reactive material, a result consistent with premature termination of dystrophin translation. The ...

journal_title：Genomics

authors： Bulman DE,Gangopadhyay SB,Bebchuck KG,Worton RG,Ray PN

更新日期：1991-06-01 00:00:00

abstract：:Bacillus spp. play important roles in production of bioactive natural products with potential agricultural and medical applications. The three families of lipopeptides produced by Bacillus spp. have been most recognized for their antagonistic activity against other microbes, i.e. fengycin, iturin, and surfactin. A nov...

journal_title：Genomics

authors： Choi J,Nam J,Seo MH

更新日期：2021-01-01 00:00:00

abstract：:The major component of the vascular and plaque amyloid deposits in Alzheimer disease is the amyloid beta peptide (A beta). A second intrinsic component of amyloid, the NAC (non-A beta component of amyloid) peptide, has recently been identified, and its precursor protein was named NACP. A computer homology search allow...

journal_title：Genomics

authors： Campion D,Martin C,Heilig R,Charbonnier F,Moreau V,Flaman JM,Petit JL,Hannequin D,Brice A,Frebourg T

更新日期：1995-03-20 00:00:00

abstract：:Four allelic forms of serum plasminogen (PLG) were detected in baboons (Papio hamadryas Linneaus 1758) by isoelectric focusing and were determined to be inherited as autosomal codominant traits. Linkage analysis of data from 179 progeny and their parents revealed that PLG is tightly linked (lod score = 30.20) to the g...

journal_title：Genomics

authors： VandeBerg JL,Weitkamp L,Kammerer CM,Weill P,Aivaliotis MJ,Rainwater DL

更新日期：1991-12-01 00:00:00

abstract：:We have isolated cDNA clones for the gene, termed GPX1, encoding the major human selenoprotein, glutathione peroxidase. Sequence analysis confirmed previous findings that the unusual amino acid seleno-cysteine is encoded by the opal terminator codon UGA. Southern blot analysis of human genomic DNA with the GPX1 cDNA s...

journal_title：Genomics

authors： Chada S,Le Beau MM,Casey L,Newburger PE

更新日期：1990-02-01 00:00:00

abstract：:Recently, we reported genetic linkage in Pima Indians between the acute insulin response to an intravenous glucose challenge and the short tandem repeat marker D1S198, indicative of a genetic element in this region that controls the phenotypic variation in the first phase of insulin secretion. As a first step to isola...

journal_title：Genomics

authors： Thompson DB,Sutherland J,Apel W,Ossowski V

更新日期：1997-01-15 00:00:00

abstract：:Several mammalian sialidases have been cloned so far and here we describe the identification and expression of a new member of the human sialidase gene family. The NEU4 gene, identified by searching sequence databases for entries showing homologies to the human cytosolic sialidase NEU2, maps in 2q37 and encodes a 484-...

journal_title：Genomics

authors： Monti E,Bassi MT,Bresciani R,Civini S,Croci GL,Papini N,Riboni M,Zanchetti G,Ballabio A,Preti A,Tettamanti G,Venerando B,Borsani G

更新日期：2004-03-01 00:00:00

abstract：:A previous in situ hybridization study with a Pi class glutathione S-transferase cDNA probe revealed the presence of hybridizing sequences on the long arms of chromosomes 11 and 12. Since the GSTP1 gene is known to be on chromosome 11 and since it is thought that chromosomes 11 and 12 arose from an ancient tetraploidi...

journal_title：Genomics

authors： Board PG,Coggan M,Woodcock DM

更新日期：1992-10-01 00:00:00

abstract：:This communication describes a software tool that enables one to simulate large-scale regional mapping using an ordered shotgun sequencing approach. The analysis routines that are provided yield an estimate of the depth of coverage of the physical map, the largest contig formed, and the number of gaps remaining at any...

journal_title：Genomics

authors： Singh GB,Krawetz SA

更新日期：1995-01-20 00:00:00

abstract：:Fluorescence in situ hybridization mapping of fully integrated human BAC clones to primate chromosomes, combined with precise breakpoint localization by PCR analysis of flow-sorted chromosomes, was used to analyze the evolutionary rearrangements of the human 3q21.3-syntenic region in orangutan, siamang gibbon, and sil...

journal_title：Genomics

authors： Yue Y,Grossmann B,Ferguson-Smith M,Yang F,Haaf T

更新日期：2005-01-01 00:00:00