Abstract:
:We examined the allele and haplotype frequencies of five polymorphic DNA markers in 355 European cystic fibrosis (CF) patients (from Belgium, the German Democratic Republic, Greece, and Italy) who were divided into two groups according to whether they were or not taking supplementary pancreatic enzymes. The level of linkage disequilibrium between each polymorphism and the CF mutation varied among the different populations; there was no significant association between KM.19 and CF in the Greek population. The distributions of alleles and haplotypes derived from the polymorphisms revealed by probes KM.19 and XV.2c were always different in patients with or without pancreatic insufficiency (PI) in all the populations studied. In particular, among 32 patients without PI, only 9 (or 28%) were homozygous for the KM.19-XV.2c = 2-1 haplotype (which was present in 73% of all the CF chromosomes in our sample) compared to 162 of 252 patients (or 64%) with PI. These findings are consistent with the hypothesis that pancreatic insufficiency or sufficiency may be determined by different mutations at the CF locus.
journal_name
Genomicsjournal_title
Genomicsauthors
Devoto M,De Benedetti L,Seia M,Piceni Sereni L,Ferrari M,Bonduelle ML,Malfroot A,Lissens W,Balassopoulou A,Adam Gdoi
10.1016/0888-7543(89)90131-6subject
Has Abstract,Author List Incompletepub_date
1989-11-01 00:00:00pages
894-8issue
4eissn
0888-7543issn
1089-8646journal_volume
5pub_type
杂志文章相关文献
GENOMICS文献大全abstract::Using the differential display technique, we isolated a cDNA clone encoding the human homolog of rat perilipin, a unique protein associated with intracellular neutral lipid droplets in adipocytes and steroidogenic cells. The full cDNA contains an open reading frame of 1566 nucleotides encoding 522 amino acids and bear...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.5179
更新日期:1998-03-01 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
pub_type: 杂志文章
doi:10.1006/geno.1997.4524
更新日期:1997-04-01 00:00:00
abstract::FAT, a new member of the human cadherin super-family, has been isolated from the T-leukemia cell line J6. The predicted protein closely resembles the Drosophila tumor suppressor fat, which is essential for controlling cell proliferation during Drosophila development. The gene has the potential to encode a large transm...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.9884
更新日期:1995-11-20 00:00:00
abstract::Farletuzumab (FAR) is a humanized monoclonal antibody (mAb) that binds to folate receptor alpha. A Ph3 trial in ovarian cancer patients treated with carboplatin/taxane plus FAR or placebo did not meet the primary statistical endpoint. Subgroup analysis demonstrated that subjects with high FAR exposure levels (Cmin>57....
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2017.04.006
更新日期:2017-07-01 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
pub_type: 杂志文章
doi:10.1016/0888-7543(88)90141-3
更新日期:1988-08-01 00:00:00
abstract::To establish syntenic relationships of phototransduction genes, we have mapped the genes encoding the alpha-, beta-, and gamma-subunits of rod cGMP phosphodiesterase (PDE) (PDEA, PDEB, PDEG), the alpha'-subunit of cone PDE (PDEA2), and the rod cGMP-gated channel (CNCG) to bovine syntenic groups. The rod cGMP PDE alpha...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80171-5
更新日期:1992-11-01 00:00:00
abstract::We describe the isolation and characterization of a human gene (CLCN3) and its murine homologue (Clcn3) sharing significant sequence and structural similarities with all previously identified members of the voltage-gated chloride channel (ClC) family. This gene is expressed primarily in tissues derived from neuroectod...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1015
更新日期:1995-05-01 00:00:00
abstract::Nitric oxide (NO) is an important molecular messenger regulating the functions of a wide variety of cells and tissues. NO is synthesized from L-arginine by a variety of isoforms of the enzyme nitric oxide synthase (NOS). We have used Southern blotting analysis on DNAs obtained from a panel of human-rodent hybrid cell ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1286
更新日期:1994-05-15 00:00:00
abstract::Duplicated segments of genomic DNA can catalyze both gene evolution and chromosome evolution. Here we describe a rodent-specific duplication involving the Uqcrb gene, a cis-regulatory element for the Gdf6 gene, and a chromosomal rearrangement. Comparisons of Gdf6 sequences from several placental mammals and platypus r...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2004.07.009
更新日期:2004-11-01 00:00:00
abstract::Transcripts related to the human carcinoembryonic antigen were found in mRNA isolated from both dimethylbenzanthracene-induced and mouse mammary tumor virus-induced mammary tumors. A cDNA library was prepared from a dimethylbenzanthracene-induced tumor, and a clone was isolated by hybridization with a human carcinoemb...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(91)90439-l
更新日期:1991-07-01 00:00:00
abstract::The human homologs of the mouse homeo box-containing genes, En-1 and En-2, which show homology to the Drosophila engrailed gene, have been isolated. The human EN1 gene was mapped to chromosome 2 by analysis of mouse-human somatic cell hybrids. The human EN2 gene was localized to chromosome 7, 7q32-7qter, by analysis o...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(89)90301-7
更新日期:1989-02-01 00:00:00
abstract::We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus and recently, demonstrated the presence of high heterogeneity in functional 5S rRNA. In this paper, we show some important distinctive data on 5S rRNA transcription for t...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2013.08.001
更新日期:2013-10-01 00:00:00
abstract::Differentiation of Wharton's Jelly-Mesenchymal Stem cells (WJ-MSCs) into cardiomyocytes (CMs) in vitro has been reported widely although contradictions remain regarding the maturation of differentiated MSCs into fully functioning CMs. Studies suggest that use of epigenetic modifiers like 5'Azacytidine (5-AC) in MSCs d...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.08.007
更新日期:2020-03-01 00:00:00
abstract::The inheritance of obesity has been analyzed in an intercross between the lean 129/Sv mouse strain and the obesity-prone EL/Suz mouse strain. The weights of three major fat pads were determined on 4-month-old mice, and the sum of these weights, divided by body weight, was used as an adiposity index. The strategy of se...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0302
更新日期:1996-06-15 00:00:00
abstract::The WD-repeat protein family consists of a large group of structurally related yet functionally diverse proteins found predominantly in eukaryotic cells. These factors contain several (4-16) copies of a recognizable amino-acid sequence motif (the WD unit) thought to be organized into a "propeller-like" structure invol...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6682
更新日期:2002-01-01 00:00:00
abstract::The Trp-Asp (WD) motif has been shown to exist in a number of proteins. Genes containing repeats of the WD motif compose a large gene family associated with a variety of cellular functions and can be divided into a number of functional subfamilies. By means of the differential display method using ttw, a mouse model f...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6475
更新日期:2001-03-15 00:00:00
abstract::There is abundant evidence that the DNA in eukaryotic cells is organized into loop domains that represent basic structural and functional units of chromatin packaging. To explore the DNA domain organization of the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1, we have identified a significant...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2006.11.003
更新日期:2007-03-01 00:00:00
abstract::Neurturin is a potent neurotrophic factor closely related to glial cell line-derived neurotrophic factor (GDNF, 40% amino acid sequence identity) and, like GDNF, can promote the survival of numerous neuronal populations including sympathetic, nodose, and dorsal root ganglion sensory neurons. Both neurturin and GDNF si...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.4846
更新日期:1997-08-15 00:00:00
abstract::8-Oxo-dGTP (8-oxo-7,8-dihydrodeoxyguanosine triphosphate) is produced by active oxygen species in the nucleotide pool of the cell and can be incorporated into cellular DNA. Human cells contain enzyme activity that hydrolyzes 8-oxo-dGTP to 8-oxo-dGMP, thereby preventing occurrence of mutations, caused by misincorporati...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1657
更新日期:1994-12-01 00:00:00
abstract::The Lp mouse mutant provides a model for the severe human neural tube defect (NTD), cranio-rachischisis. To identify the Lp gene, a positional cloning approach has been adopted. Previously, linkage analysis in a large intraspecific backcross was used to map the Lp locus to distal mouse chromosome 1. Here we report a d...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1998.5701
更新日期:1999-03-01 00:00:00
abstract::The pattern of linkage disequilibrium between a disease locus and a set of marker loci has been shown to be a useful tool for geneticists searching for disease genes. Several methods have been advanced to utilize the pairwise disequilibrium between the disease locus and each of a set of marker loci. However, none of t...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0419
更新日期:1996-08-15 00:00:00
abstract::Hereditary congenital facial paresis (HCFP) belongs to the family of congenital cranial dysinnervation disorders and is characterized by an isolated dysfunction of the facial nerve (nVII). While genetic defects have been identified for several members of this disease family, genes underlying congenital facial paresis ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2005.03.007
更新日期:2005-07-01 00:00:00
abstract::A complete genetic linkage map of the soybean, in which sequence-based (SB) genetic markers are evenly distributed genomewide, was constructed from an F(12) population composed of 113 recombinant inbred lines derived from an interspecific cross involving Korean genotypes Hwangkeum and IT182932. Several approaches were...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2008.03.008
更新日期:2008-07-01 00:00:00
abstract::Inborn errors of mitochondrial beta-oxidation cause ectopic fat accumulation, particularly in the liver. Fatty liver is associated with insulin resistance and predisposes to hepatic fibrosis. The factors underlying the pathophysiological consequences of hepatic fat accumulation have remained poorly defined. Gene expre...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2007.08.004
更新日期:2007-12-01 00:00:00
abstract::Aldehyde reductase (EC 1.1.1.2; AKR1A1) is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. To study the regulation of its expression, the human aldehyde reductase gene and promoter were cloned and characterized. The protein coding region consists of eight exons,...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1999.5915
更新日期:1999-09-01 00:00:00
abstract::Identifying physiological and transcriptomic changes can provide insights into the effects of drier air humidity stress on plants. In this study, we selected 6-month-old seedlings of Pterocarya stenoptera as study materials and used physiological index detection and transcriptome sequencing to investigate the adaptati...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.09.027
更新日期:2020-11-01 00:00:00
abstract::Genes that encode the vertebrate fibrillar collagen types I-III have previously been shown to share a highly conserved intron/exon organization, thought to reflect common ancestry and evolutionary pressures at the protein level. We report here the complete intron/exon organization of COL5A1, the human gene that encode...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.9961
更新日期:1995-10-10 00:00:00
abstract::Glutaredoxin is a small protein (12 kDa) catalyzing glutathione-dependent disulfide oxidoreduction reactions in a coupled system with NADPH, GSH, and glutathione reductase. A cDNA encoding the human glutaredoxin gene (HGMW-approved symbol GLRX) has recently been isolated and cloned from a human fetal spleen cDNA libra...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0141
更新日期:1996-03-15 00:00:00
abstract::The deletion of the short arm of chromosome 5 is associated with the cri-du-chat syndrome. In addition, loss of this portion of a chromosome is a common cytogenetic marker in a number of malignancies. However, to date, no genes associated with these disorders have been identified. Physical maps are the first step in i...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1668
更新日期:1994-12-01 00:00:00
abstract::We characterize the cDNA and genomic structure of NSBP1, and demonstrate that it is a nuclear protein and the homologue of mouse Nsbp1, which is known to encode a nucleosomal binding and transcriptional activating protein related to the HMG-14/-17 chromosomal proteins. The encoded NSBP1 protein has 86% amino acid simi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6443
更新日期:2001-01-15 00:00:00