Výsledky vyhledávání - "Senator Hazelwood"

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III

Autor: Senator Hazelwood, Vorasuk Shotelersuk, Harvey S. Mudd, Albert Tangerman, William A. Gahl, Isa Bernardini, Juanru Guo

Publikováno v: American Journal of Medical Genetics. 75:395-400

Two isozymes of mammalian methionine adenosyltransferase, MAT I and MAT III, are expressed solely in adult liver. They are, respectively, tetramers and dimers of a single subunit encoded by the gene MAT1A. A third isozyme, MAT II, contains a catalyti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a323a84340fd830d9f526bba402854
https://doi.org/10.1002/(sici)1096-8628(19980203)75:4<395::aid-ajmg9>3.0.co

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Maternal Behavior in Male Rats: Effects of Medial Preoptic Area Lesions and Presence of Maternal Aggression

Autor: Jekeisa Poole, Senator Hazelwood, Jay S. Rosenblatt

Publikováno v: Hormones and Behavior. 30:201-215

Male rats exhibit maternal behavior prepuberally and in adulthood, but the neural mechanisms and the ability of males to respond to hormones that stimulate maternal aggression (following arousal of maternal behavior) in females have not been studies.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3825feef9e40b134ba01d0f09e85d36
https://doi.org/10.1006/hbeh.1996.0025

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Transcription factor Egr-1 in calcific aortic valve disease

Autor: Marjan, Ghazvini-Boroujerdi, Jocelyn, Clark, Navneet, Narula, Elizabeth, Palmatory, Jeanne M, Connolly, Suzanne, DeFelice, Jie, Xu, Bo, Jian, Senator, Hazelwood, Robert J, Levy

Publikováno v: The Journal of heart valve disease. 13(6)

Previous immunohistochemistry studies have shown that the transcription factor, Egr-1, is increased in human atherosclerotic lesions but is absent from the normal adjacent aortic wall. The hypothesis was investigated that Egr-1 is also increased in c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::555ff4d41a9a6b8950f066b006fee2f3
https://pubmed.ncbi.nlm.nih.gov/15597579

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The incorporation of an ion channel gene mutation associated with the long QT syndrome (Q9E-hMiRP1) in a plasmid vector for site-specific arrhythmia gene therapy: in vitro and in vivo feasibility studies

Autor: Denise Y. Burton, Robert J. Levy, Itay Perlstein, Suzanne DeFelice, Senator Hazelwood, Ilia Fishbein, Douglas A. Coulter, Cunxian Song, Quanyi Li, Jeanne M. Connolly

Publikováno v: Human gene therapy. 14(9)

The present studies investigated the cardiac potassium channel missense mutation, Q9E-hMiRP1, for potential use as a gene therapy construct for cardiac arrhythmias. This gene abnormality is one of a number of mutations that can cause the long QT synd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920956c3ba216f4ac1bddb03e18002db
https://pubmed.ncbi.nlm.nih.gov/12828861

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Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene

Autor: William A. Gahl, Ruben C. Aguilar, Esteban C. Dell'Angelica, Senator Hazelwood, Nathan E. Wolins, Juan S. Bonifacino

Publikováno v: The Journal of biological chemistry. 275(2)

Hermansky-Pudlak syndrome (HPS) comprises a group of genetic disorders characterized by defective lysosome-related organelles. The most common form of HPS (HPS type 1) is caused by mutations in a gene encoding a protein with no homology to any other

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfd3e345bb1e35bb384e60f87360b68
https://pubmed.ncbi.nlm.nih.gov/10625677

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Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations

Autor: Muriel I. Kaiser-Kupfer, Senator Hazelwood, Fumino Iwata, Vorasuk Shotelersuk, David B. Larson, Isa Bernardini, William A. Gahl, Ernest M. Kuehl

Publikováno v: Molecular genetics and metabolism. 64(2)

Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. HPS is common in northwest Puerto Rico, where affected individuals are homozygous for a 16-bp duplication in the gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb06836a9e1e1bbdec1bca21bd669b19
https://pubmed.ncbi.nlm.nih.gov/9705234

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Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

Autor: Muriel I. Kaiser-Kupfer, Vorasuk Shotelersuk, Senator Hazelwood, Isa Bernardini, Lynn F. Duffy, Fumino Iwata, James Troendle, Ernest M. Kuehl, William A. Gahl, Mark L. Brantly

Publikováno v: The New England journal of medicine. 338(18)

Hermansky-Pudlak syndrome is characterized by oculocutaneous albinism, a storage-pool deficiency, and lysosomal accumulation of ceroid lipofuscin, which causes pulmonary fibrosis and granulomatous colitis in some cases. All identified affected patien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54506d5f04fa3cecc005f1811f12e94d
https://pubmed.ncbi.nlm.nih.gov/9562579

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Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13

Autor: Takao Isogai, Akira Tanigami, David H. Ledbetter, Mihael H. Polymeropoulos, William van’t Hoff, Senator Hazelwood, Margaret M. Town, William A. Gahl, Geraldine McDowell, David Konecki, Jean Weissenbach, Uta Lichter-Konecki

Publikováno v: Biochemical and molecular medicine. 58(2)

The cystinosis gene has been reported to reside in a 3.1 cM region of chromosome 17p13 flanked by markers D17S1828 and D17S1798. We created a yeast artificial chromosome (YAC) contig between these markers and report here an integrated genetic and phy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cc2810c3e32a0721643fbc048991e80
https://pubmed.ncbi.nlm.nih.gov/8812732

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