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Paula S. Henthorn
Researcher at University of Pennsylvania
Publications - 95
Citations - 5019
Paula S. Henthorn is an academic researcher from University of Pennsylvania. The author has contributed to research in topics: Severe combined immunodeficiency & Gene. The author has an hindex of 36, co-authored 94 publications receiving 4867 citations. Previous affiliations of Paula S. Henthorn include National Institutes of Health.
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Journal ArticleDOI
Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif
TL;DR: Two complementary DNAs were isolated that encode proteins that are expressed in a variety of cell types and bind the microE5/kappa 2 motif found in both heavy and kappa light chain enhancers.
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Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase.
Mitchell J. Weiss,Paula S. Henthorn,Mary Ann Lafferty,Clive A. Slaughter,Michael Raducha,Harry Harris +5 more
TL;DR: To examine structural and evolutionary relationships between the various ALPs, a cDNA corresponding to L/B/K ALP mRNA has been isolated and shows 52% homologies to human placental ALP and 25% homology to Escherichia coli ALP precursor polypeptides.
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Structure of the human liver/bone/kidney alkaline phosphatase gene.
TL;DR: In this article, the authors described the characterization of the human liver/bone/kidney alkaline phosphatase locus, which appears to exist as a single copy in the haploid genome and is comprised of 12 exons distributed over more than 50 kilobases.
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The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
Jennifer M. Puck,Suzanne M. Deschênes,Joanne C. Porter,Amalla S. Dutra,Carolyn J. Brown,Huntington F. Willard,Paula S. Henthorn +6 more
TL;DR: The demonstration of impaired IL2RG mRNA expression in males with X-linked SCID and of unique point mutations in SCIDX1 pedigrees constitutes powerful evidence that the SCID X1 gene is IL2 RG, a candidate for the X- linked form of severe combined immunodeficiency at the SC IDX1 locus.
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Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
TL;DR: In this paper, the authors examined TNSALP cDNAs from four unrelated patients with the severe perinatal or infantile forms of hypophosphatasia and found that each of the eight TNSalP alleles from these four individuals contains a different point mutation that causes an amino acid substitution.