Výsledky vyhledávání - "Donna Durham-Pierre"

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice

Autor: Anne Lehman, Roderick T. Bronson, Natalie M. Keiper-Hrynko, Donna Durham-Pierre, Murray H. Brilliant, Daniel B. Horton, Yoshimichi Nakatsu, Joshua N. Finger, Ada Ching, J. M. Newton, Rebecca J. Oakey, Mary F. Lyon

Publikováno v: Proceedings of the National Academy of Sciences. 95:9436-9441

Three radiation-induced alleles of the mouse p locus, p 6H , p 25H , and p bs , cause defects in growth, coordination, fertility, and maternal behavior in addition to p gene-related hypopigmentation. These alleles are associated with disruption of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f648e2a53645ebcb2f8e6ca61386328
https://doi.org/10.1073/pnas.95.16.9436

Zobrazit plný text záznamu

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

Autor: Patricia Lund, Neelu Puri, Murray H. Brilliant, Richard A. King, Robert Aquaron, Donna Durham-Pierre

Publikováno v: Human Genetics. 100:651-656

In previous studies, we characterized a 2.7-kb interstitial deletion allele of the P gene associated with tyrosinase-positive oculocutaneous albinism (OCA2) in African Americans and Africans. In this study, we investigated the frequency of this allel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b2fed24a107eb3b75d211c53929c24a
https://doi.org/10.1007/s004390050568

Zobrazit plný text záznamu

Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African‐Americans

Autor: Donna Durham-Pierre, Murray H. Brilliant, Richard A. King, Steve Laken, John M. Naber

Publikováno v: Human Mutation. 7:370-373

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ecf93252e85ce8994a3445885bcac82
https://doi.org/10.1002/(sici)1098-1004(1996)7:4<370::aid-humu15>3.3.co

Zobrazit plný text záznamu

Melanosomal Tyrosine Transport in Normal and Pink-eyed Dilution Murine Melanocytes

Autor: William A. Gahl, Vincent J. Hearing, Brian Potterf, Murray H. Brilliant, Donna Durham-Pierre

Publikováno v: Pigment Cell Research. 8:229-233

Tyrosine is the endogenous substrate for melanin production within melanosomes, but the method of tyrosine transport into the melanosome has not been investigated. In the mouse, melanogenesis is disrupted by mutations in the p gene resulting in the p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4b0b3e24d846b7cd4cbbb34e353fcc
https://doi.org/10.1111/j.1600-0749.1995.tb00668.x

Zobrazit plný text záznamu

Oculocutaneous albinism in an isolated Tonga community in Zimbabwe

Autor: Richard A. King, Patricia Lund, Donna Durham-Pierre, Murray H. Brilliant, Neelu Puri

Oculocutaneous albinism (OCA) is a recessively inherited genetic condition prevalent throughout sub-Saharan Africa. We now describe a cluster of tyrosinase positive OCA (OCA2) cases belonging to the Tonga ethnic group living in the Zambezi valley of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b617deceb4cac6bd5c67e6078e6c72
https://europepmc.org/articles/PMC1051056/

Zobrazit plný text záznamu

Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene

Autor: Seth J. Orlow, Susana Rosemblat, Murray H. Brilliant, Yoshimichi Nakatsu, Donna Durham-Pierre, John M. Gardner

The pink-eyed dilution (p) locus in the mouse is critical to melanogenesis; mutations in the homologous locus in humans, P, are a cause of type II oculocutaneous albinism. Although a cDNA encoded by the p gene has recently been identified, nothing is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c714bbee8fbd3abc12cd7e4541e28c6
https://europepmc.org/articles/PMC45378/

Zobrazit plný text záznamu

The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2

Autor: Donna Durham-Pierre, John M. Gardner, Murray H. Brilliant, Simone Schuffenhauer, Richard A. King, Yoshimichi Nakatsu, Uta Francke, Thomas Meitinger

Publikováno v: Pigment cell research. 7(6)

Mutations at the mouse pink-eyed dilution locus, p, cause hypopigmentation. We have cloned the mouse p gene cDNA and the cDNA of its human counterpart, P. The region of mouse chromosome 7 containing the p locus is syntenic with human chromosome 15q11

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e00fd48973909dd999da58bc0998fa
https://pubmed.ncbi.nlm.nih.gov/7761348

Zobrazit plný text záznamu

A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus

Autor: Murray H. Brilliant, John M. Gardner, Richard W. Olsent, Heather J. McDanel, Joseph Wagstaff, Marc Lalando, Yoshimichi Nakatsu, Rachel F. Tyndale, Donna Durham-Pierre, Allan J. Tobin, James M. Sikela, Q. Nguyen, Timothy M. DeLorey

Publikováno v: Nature. 364(6436)

The mouse pink-eyed cleft-palate (p(cp)) mutation is characterized by hypopigmentation associated with cleft palate, neurological disorders and runting. Most p(cp) homozygotes are born with cleft palate and die shortly after birth, presumably as a re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867d56cbd19f570c9cc249098adab615
https://pubmed.ncbi.nlm.nih.gov/8392662

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání