A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis.

abstract：:Premature ovarian failure (POF) is characterized by heterogeneous genetic causes such as chromosomal abnormalities and variants in causal genes. Recently, development of techniques made next generation sequencing (NGS) possible to detect genome wide variants including chromosomal abnormalities. Among 37 Korean POF pat...

journal_title：Genomics

authors： Lee Y,Kim C,Park Y,Pyun JA,Kwack K

更新日期：2016-12-01 00:00:00

abstract：:Nearly 60 unique J alpha regions have been identified in human T-cell receptor (TCR) alpha chains to date, yet fewer than one-third of these have been localized within the alpha-chain locus. We report a rapid method for the mapping of productively rearranged J alpha regions using oligonucleotide probes and overlapping...

journal_title：Genomics

authors： Harvey RC,Showe LC

更新日期：1993-04-01 00:00:00

abstract：:SHIP2 is a new member of the inositol polyphosphate 5-phosphatase family showing homology to SHIP1. The structure of both enzymes is characterized by the presence of a 5' SH2 domain, a central catalytic domain, and a 3' proline-rich region. Recent results suggest that SHIP2 and SHIP1 act downstream of various receptor...

journal_title：Genomics

authors： Schurmans S,Carrió R,Behrends J,Pouillon V,Merino J,Clément S

更新日期：1999-12-01 00:00:00

abstract：:Iduronate-2-sulfatase (IDS) is involved in the degradation of heparan sulfate and dermatan sulfate in the lysosomes, and a deficiency in this enzyme results in Hunter syndrome. A 2.3-kb cDNA clone that contains the entire coding sequence of IDS has previously been reported. Here we describe the identification of a 1.4...

journal_title：Genomics

authors： Malmgren H,Carlberg BM,Pettersson U,Bondeson ML

更新日期：1995-09-01 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：:A bacterial artificial chromosome (BAC) library has been constructed for use in bovine genome mapping using constructed for use in bovine genome mapping using the pBeloBAC11 vector. Currently, the library consists of 23,040 clones, which achieves a 70% probability (P=0.70) of the library containing a specific unique D...

journal_title：Genomics

authors： Cai L,Taylor JF,Wing RA,Gallagher DS,Woo SS,Davis SK

更新日期：1995-09-20 00:00:00

abstract：:Identifying heterogeneity in chronic obstructive pulmonary disease (COPD) phenotypes is important for the development of personalized medicine. Genome-wide analysis was used to compare the methylation levels of peripheral blood mononuclear cell (PBMC) samples from 24 acute-exacerbation (AE) COPD patients with good/poo...

journal_title：Genomics

authors： Lee SW,Hwang HH,Hsu PW,Chuang TY,Liu CW,Wu LS

更新日期：2019-12-01 00:00:00

abstract：:Desmoglein is a transmembrane glycoprotein of the cadherin superfamily present in the desmosomal junction in vertebrate epithelial cells. At least two variants of desmoglein are differentially expressed in human tissues: DGI, a characteristic desmosomal protein; and HDGC, which is, for example, expressed in the simple...

journal_title：Genomics

authors： Arnemann J,Spurr NK,Magee AI,Buxton RS

更新日期：1992-06-01 00:00:00

abstract：:Chromosome 11p13 is frequently rearranged in individuals with the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) or parts of this syndrome. To map the cytogenetic aberrations molecularly, we screened DNA from cell lines with known WAGR-related chromosome abnormalities for rearra...

journal_title：Genomics

authors： Gessler M,Bruns GA

更新日期：1988-08-01 00:00:00

abstract：:Point mutations in the factor VIII gene are responsible for the majority of cases of hemophilia A, and only a small fraction of these mutations can be recognized by restriction endonuclease analysis. We have now used polymerase chain reaction and denaturing gradient gel electrophoresis to characterize single nucleotid...

journal_title：Genomics

authors： Traystman MD,Higuchi M,Kasper CK,Antonarakis SE,Kazazian HH Jr

更新日期：1990-02-01 00:00:00

abstract：:Thirteen moderately to highly informative microsatellite DNA polymorphisms based on (dC-dA)n.(dG-dT)n repeats were mapped to segments of human chromosome 5 using both linkage analysis and a panel of somatic cell hybrids which contained rearranged chromosomes. The markers were distributed throughout most of the length ...

journal_title：Genomics

authors： Weber JL,Polymeropoulos MH,May PE,Kwitek AE,Xiao H,McPherson JD,Wasmuth JJ

更新日期：1991-11-01 00:00:00

abstract：:The high-affinity receptor for interleukin-11 (IL-11) is composed of two subunits, IL-11 receptor alpha chain (IL-11R alpha) and gp130, the common subunit of the interleukin-6 (IL-6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor, and oncostatin M receptors. The IL-11 receptor-specific alpha chain sha...

journal_title：Genomics

authors： Chérel M,Sorel M,Apiou F,Lebeau B,Dubois S,Jacques Y,Minvielle S

更新日期：1996-02-15 00:00:00

abstract：:One of the most critical periods of embryonic loss in pig is day 12 of pregnancy, when implantation begins. Here, we analyzed the gene expression on day 12 of pregnancy and non-pregnancy in the porcine endometrium using RNA sequencing (RNA-seq). 237 mRNAs, 34 lncRNAs and 1 miRNA were significantly differentially expre...

journal_title：Genomics

authors： Wang Y,Hu T,Wu L,Liu X,Xue S,Lei M

更新日期：2017-01-01 00:00:00

abstract：:The transcription factor E2F1 is an important regulator of cell proliferation, apoptosis, and differentiation. A novel mouse gene (Eig3) was originally identified as up-regulated in E2F1-overexpressing keratinocytes by the rapid analysis of gene expression technique. An apparently full-length cDNA and a 2.8-kb genomic...

journal_title：Genomics

authors： Wang A,Johnson DG,MacLeod MC

更新日期：2001-05-01 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：:Salinity is a major limiting factor in crop production. Exogenous spermidine (spd) effectively ameliorates salt injury, though the underlying molecular mechanism is poorly understood. We have used a suppression subtractive hybridization method to construct a cDNA library that has identified up-regulated genes from ric...

journal_title：Genomics

authors： Saha J,Giri K,Roy S

更新日期：2020-11-01 00:00:00

abstract：:Despite the broad variety of available microRNA (miRNA) prediction tools, their application to the discovery and annotation of novel miRNA genes in domestic species is still limited. In this study we designed a comprehensive pipeline (eMIRNA) for miRNA identification in the yet poorly annotated porcine genome and demo...

journal_title：Genomics

authors： Mármol-Sánchez E,Cirera S,Quintanilla R,Pla A,Amills M

更新日期：2020-05-01 00:00:00

abstract：:The 19 chromosomal pairs of the swine karyotype are resolved into 18 peaks denoted A to Q and Y by dual-beam flow cytometry. The chromosomal content of six peaks has previously been determined by analyzing male/female differences, karyotypes of animals carrying translocations, and PCR studies of genes with known assig...

journal_title：Genomics

authors： Yerle M,Schmitz A,Milan D,Chaput B,Monteagudo L,Vaiman M,Frelat G,Gellin J

更新日期：1993-04-01 00:00:00

abstract：:Mammalian genomes include DNA segments that are imprinted (CpG-methylated) only on one of the two parental chromosomes, leading to parent-of-origin-specific gene expression. The process is regulated by Imprinting Control Regions (ICRs) and germline Differentially Methylated Regions (gDMRs). Previously, ZFP57 was shown...

journal_title：Genomics

authors： Bina M

更新日期：2017-07-01 00:00:00

abstract：:We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...

journal_title：Genomics

authors： Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

更新日期：1999-04-01 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：: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：:CL-20 is a novel gene encoding a protein that is structurally related to but distinct from the peripheral myelin protein PMP22. Like PMP22, CL-20 is likely to play important roles in the regulation of cell proliferation, differentiation, and cell death. In this study, we describe the cloning and sequencing of a cDNA e...

journal_title：Genomics

authors： Chen Y,Medvedev A,Ruzanov P,Marvin KW,Jetten AM

更新日期：1997-04-01 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：:By direct sequence analysis of 94 mutant phenylalanine hydroxylase alleles using polymerase chain reaction-based techniques, we identified a C to T transition in exon 7 of the human phenylalanine hydroxylase gene that is associated with RFLP haplotypes 1 and 4. A leucine for proline substitution at position 281 can be...

journal_title：Genomics

authors： Dworniczak B,Grudda K,Stümper J,Bartholomé K,Aulehla-Scholz C,Horst J

更新日期：1991-01-01 00:00:00

abstract：:A NotI linking library constructed from flow-sorted human chromosome 17 material was screened to aid in construction of a long-range restriction map of the Miller-Dieker chromosome region (MDCR) in 17p13.3. A total of 66 clones were mapped to one of eight regions of chromosome 17 using a somatic cell hybrid panel, and...

journal_title：Genomics

authors： Ledbetter SA,Wallace MR,Collins FS,Ledbetter DH

更新日期：1990-06-01 00:00:00

abstract：:Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. A common deletion including at least 16-17 genes has been defined in the great majority of patients. We have completed a physical and transcription map of the WBS region based on analys...

journal_title：Genomics

authors： Valero MC,de Luis O,Cruces J,Pérez Jurado LA

更新日期：2000-10-01 00:00:00

abstract：:Afrotheria genome size is reported to be over 50% larger than that of human, but we show that this is a gross overestimate. Although genome sequencing in Afrotheria is not complete, extensive homology with human has been revealed by chromosome painting. We provide new data on chromosome size and GC content in four Afr...

journal_title：Genomics

authors： Kasai F,O'Brien PC,Ferguson-Smith MA

更新日期：2013-11-01 00:00:00

abstract：:The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. In this report, we present a corrected genomic sequence, genomic structure, and refined chromosomal location for KiSS-1. The genomic organization of the sequence revea...

journal_title：Genomics

authors： West A,Vojta PJ,Welch DR,Weissman BE

更新日期：1998-11-15 00:00:00

abstract：:We cloned and characterized a genomic DNA fragment including the deletion junction of a chronic granulomatous disease patient with a 25-kb deletion extending to the 5' two-thirds of CYBB. The 3' breakpoint of the deletion exists in exon 7 of CYBB. A LINE-1 element lies at 5 kb upstream of CYBB in normal persons, and t...

journal_title：Genomics

authors： Kumatori A,Faizunnessa NN,Suzuki S,Moriuchi T,Kurozumi H,Nakamura M

更新日期：1998-10-15 00:00:00