Search Results - "VEILE, R"
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Effects of whole blood leukoreduction on platelet function and hemostatic parameters
Published in Transfusion medicine (Oxford, England) (01-10-2019)“…SUMMARY Aims/Objectives The aim of this study was to evaluate the hemostatic consequences of whole blood leukoreduction (LR). Background Whole blood is being…”
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Rh-related antigen CD47 is the signal-transducer integrin-associated protein
Published in The Journal of biological chemistry (21-01-1994)“…Integrin-associated protein (IAP) is a 50-kDa membrane protein with an amino-terminal immunoglobulin domain and a carboxyl-terminal multiply membrane-spanning…”
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Genomic organization of human surfactant protein D (SP-D). SP-D is encoded on chromosome 10q22.2-23.1
Published in The Journal of biological chemistry (05-02-1993)“…Surfactant protein D (SP-D) is a member of the family of mammalian C-type lectins. SP-D is secreted into the pulmonary airspaces by lung epithelial cells and…”
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Mapping Human Telomere Regions with YAC and P1 Clones: Chromosome-Specific Markers for 27 Telomeres Including 149 STSs and 24 Polymorphisms for 14 Proterminal Regions
Published in Genomics (San Diego, Calif.) (15-09-1996)“…A YAC library enriched for telomere clones was constructed and screened for the human telomere-specific repeat sequence (TTAGGG). Altogether 196 TYAC library…”
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Neural-Specific Expression, Genomic Structure, and Chromosomal Localization of the Gene Encoding the Zinc-Finger Transcription Factor NGFI-C
Published in Proceedings of the National Academy of Sciences - PNAS (15-05-1992)“…The nerve growth factor-induced clone C (NGFI-C) gene encodes a zinc-finger transcription factor that is rapidly induced by nerve growth factor in rat…”
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A 1.5-Megabase Yeast Artificial Chromosome Contig from Human Chromosome 10q11.2 Connecting Three Genetic Loci (RET, D10S94, and D10S102) Closely Linked to the MEN2A Locus
Published in Proceedings of the National Academy of Sciences - PNAS (15-01-1993)“…The genetic loci RET, D10S94, and D10S102 from human chromosome 10q11.2 are very closely linked to a locus responsible for the multiple endocrine neoplasia…”
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Cloning, Heterologous Expression, and Chromosomal Localization of Human Inositol Polyphosphate 1-Phosphatase
Published in Proceedings of the National Academy of Sciences - PNAS (15-06-1993)“…Inositol polyphosphate 1-phosphatase, an enzyme in the phosphatidylinositol signaling pathway, catalyzes the hydrolysis of the 1 position phosphate from…”
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Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
Published in Human molecular genetics (15-04-2002)“…PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM #604416) and familial recurrent arthritis (FRA) are rare inherited disorders of…”
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Isolation, Characterization, and Chromosomal Mapping of the Human Nkx6.1 Gene (NKX6A), a New Pancreatic Islet Homeobox Gene
Published in Genomics (San Diego, Calif.) (01-03-1997)“…Nkx6.1 (gene symbol NKX6A), a new member of the NK homeobox gene family, was recently identified in rodent pancreatic islet β-cell lines. The pattern of…”
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Subregional Localization of 21 Chromosome 7-Specific Expressed Sequence Tags (ESTs) by FISH Using Newly Identified YACs and P1s
Published in Genomics (San Diego, Calif.) (15-12-1997)“…Twenty-one putative chromosome 7-derived expressed sequence tags (ESTs) identified 33 yeast artificial chromosomes (YACs) or P1 clones, which were then used as…”
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Index, Comprehensive Microsatellite, and Unified Linkage Maps of Human Chromosome 14 with Cytogenetic Tie Points and a Telomere Microsatellite Marker
Published in Genomics (San Diego, Calif.) (10-10-1995)“…Three sets of linkage maps (index, comprehensive microsatellite, and unified) have been constructed for human chromosome 14 based on genotypes from the CEPH…”
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cDNA Sequence and Chromosomal Localization of Human Enterokinase, the Proteolytic Activator of Trypsinogen
Published in Biochemistry (Easton) (11-04-1995)“…Enterokinase is a serine protease of the duodenal brush border membrane that cleaves trypsinogen and produces active trypsin, thereby leading to the activation…”
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Improved predictive test for MEN2, using flanking dinucleotide repeats and RFLPs
Published in American journal of human genetics (01-12-1992)“…Gene(s) for the autosomal dominant endocrine cancer syndromes, multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B (MEN2B), and…”
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Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C
Published in American journal of human genetics (01-04-2000)“…Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder characterized by marked loss of subcutaneous adipose tissue from the…”
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A new RFLP marker D5S348 maps to 5p14.3-15.2, between D5S60 (CRrR535) and HPRTP2
Published in Nucleic acids research (11-03-1992)“…Images…”
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SNTG1, the gene encoding gamma 1-syntrophin: a candidate gene for idiopathic scoliosis
Published in Human genetics (01-06-2004)“…Idiopathic scoliosis (IS) affects approximately 2%-3% of the population and has a heritable component. The genetics of this disorder are complex. Here, we…”
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Isolation of YAC clones from the pericentromeric region of chromosome 10 and development of new genetic markers linked to the multiple endocrine neoplasia type 2A gene
Published in Henry Ford Hospital medical journal (1992)“…Genetic linkage mapping and contig assembly using yeast artificial chromosome (YAC) technology form the basis of our strategy to clone and define the genomic…”
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Human Cholecystokinin Type A Receptor Gene: Cytogenetic Localization, Physical Mapping, and Identification of Two Missense Variants in Patients with Obesity and Non-Insulin-Dependent Diabetes Mellitus (NIDDM)
Published in Genomics (San Diego, Calif.) (01-06-1997)“…The human CCKAR gene was previously mapped to chromosome 4 using a panel of human/hamster somatic cell hybrids. We now report the cytogenetic and physical…”
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Genetic mapping and phenotypic analysis of shotH.3.2 in Drosophila melanogaster
Published in microPublication biology (13-07-2021)“…Genetic screens are used to identify genes involved in specific biological processes. An EMS mutagenesis screen in Drosophila melanogaster identified growth…”
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