Zobrazeno 1 - 10
of 19
pro vyhledávání: '"W S, Oetting"'
Publikováno v:
Ophthalmic genetics. 21(4)
Congenital motor nystagmus (CN) is a relatively common genetic disorder (approximately 1 in 1500) characterized by bilateral involuntary ocular oscillations, with onset occurring within the first six months of life. To date, three loci associated wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::605cab54e6f3d132b09ff95d57b8d84d
https://pubmed.ncbi.nlm.nih.gov/11135493
https://pubmed.ncbi.nlm.nih.gov/11135493
Autor:
W S, Oetting
Publikováno v:
Pigment cell research. 13(5)
Through the last century there has been a steady progression in our understanding of the biology of melanin biosynthesis. Much of this work includes the analysis of coat color mutations of the mouse and albinism in man. Our understanding has been gre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6085b3d66d8b9835266b3218c15ac1b4
https://pubmed.ncbi.nlm.nih.gov/11041207
https://pubmed.ncbi.nlm.nih.gov/11041207
Autor:
J A, Thompson, P L, Chen, R A, King, S S, Rich, W S, Oetting, C, Armstrong, A R, Folsom, T A, Sellers
Publikováno v:
Cancer epidemiology, biomarkersprevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 9(5)
Much research on early-onset breast cancer families has been performed and has shown that breast cancer in many of these families is linked to either BRCA1 or BRCA2. Fewer studies have examined the role of genetic predisposition in postmenopausal bre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cee851fc8dbfec516263670af8b13e64
https://pubmed.ncbi.nlm.nih.gov/10815696
https://pubmed.ncbi.nlm.nih.gov/10815696
Autor:
W S, Oetting
Publikováno v:
Pigment cell research. 13(1)
The response of cells to extracellular signals usually requires altered expression of many genes, possibly including several distinct metabolic pathways. In some cases, only a subset of genes involved in such responses are known, which requires techn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::358efa98ff4b96d8d822fecc6eb69e78
https://pubmed.ncbi.nlm.nih.gov/10761992
https://pubmed.ncbi.nlm.nih.gov/10761992
Autor:
W S, Oetting, J M, Gardner, J P, Fryer, A, Ching, D, Durham-Pierre, R A, King, M H, Brilliant
Publikováno v:
Human mutation. 12(6)
Mutations in the human P gene lead to oculocutaneous albinism type 2 (OCA2, MIM #203200), the most common type of albinism in humans. The P gene encodes a 110 kDa protein that is associated with melonosomal membranes and contains 12 potential membran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9de86949c8e7ccae2ce68093e3cb05a1
https://pubmed.ncbi.nlm.nih.gov/10671067
https://pubmed.ncbi.nlm.nih.gov/10671067
Publikováno v:
Human mutation. 12(6)
Mutations in the human tyrosinase gene produce tyrosinase-related oculocutaneous albinism (OCA1, MIM #203100). Tyrosinase is a copper containing enzyme and is responsible for catalyzing the rate limiting step in melanin biosynthesis, the hydroxylatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dcea0808ef54aa02b91ddad2b191581d
https://pubmed.ncbi.nlm.nih.gov/10671066
https://pubmed.ncbi.nlm.nih.gov/10671066
Autor:
W S, Oetting, R A, King
Publikováno v:
Human mutation. 13(2)
Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved in the biosynthesis of melanin pigment. The lack
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6faa630b9546f04c3ab7ce183d61f26
https://pubmed.ncbi.nlm.nih.gov/10094567
https://pubmed.ncbi.nlm.nih.gov/10094567
Autor:
R E, Boissy, H, Zhao, W S, Oetting, L M, Austin, S C, Wildenberg, Y L, Boissy, Y, Zhao, R A, Sturm, V J, Hearing, R A, King, J J, Nordlund
Publikováno v:
American journal of human genetics. 58(6)
Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA have been described but have not been mapped to specific loci. Melanocytes were cultured fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::676f5c9d069dc9db84b6385d22b754d0
https://pubmed.ncbi.nlm.nih.gov/8651291
https://pubmed.ncbi.nlm.nih.gov/8651291
Publikováno v:
American journal of ophthalmology. 121(6)
Purpose To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation. Methods A 34-year-old woman with a history of strabismus and absent cutaneous pigment underwent comprehensive ophthalmic examin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef6876a96aeb5bbcc782bc41778a79a5
https://pubmed.ncbi.nlm.nih.gov/8644824
https://pubmed.ncbi.nlm.nih.gov/8644824
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that affects pigment production and platelet function and causes the deposition of a ceroid-like material in various tissues. Variability in the phenotype and the presence of several
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a304fc4cbbe769499b92bd078ac2718e
https://europepmc.org/articles/PMC1801499/
https://europepmc.org/articles/PMC1801499/
