Results 21 to 30 of about 4,797 (115)

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells [PDF]

, 2008
The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes.
Bennett, DC, Venturi C, Palmigiano, A, Schiaffino, MV, Piccirillo, R, Altimare D., Rotondo G., Tacchetti, C, Marigo, V, Bagnato P., Coppola M., Rotondo, G, Venturi, C, Sviderskaya, EV, Palmisano I., Palmigiano A., Altimare D, Bagnato, P, Marigo V., Surace, EM, Altimare, D, Tacchetti C, Innamorati G., Venturi C., Surace E. M., Palmisano I, Rotondo G, INNAMORATI, Giulio, BALLABIO, ANDREA, Schiaffino M. V., Sviderskaya E. V., Palmigiano A, Innamorati G, SURACE, Enrico Maria, Sviderskaya EV, Piccirillo R, Bagnato P, Ballabio A., Incerti B, Piccirillo R., Tacchetti C., Schiaffino MV, Coppola, M, Incerti, B, Bennett DC, Incerti B., Palmisano, I, Coppola M, Bennett D. C., Innamorati, G, Ballabio, A, Marigo V   +51 more
core   +1 more source

Foveal avascular zone in oculocutaneous albinism [PDF]

, 2021
Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal ...
Mansour, Ahmad Mohammed Farid Mahmoud, Uwaydat, Sami H., Younis, Muhammad H., Mansour, Hana A.   +3 more
core   +1 more source

TYR (tyrosinase (oculocutaneous albinism IA)) [PDF]

, 2012
Review on TYR (tyrosinase (oculocutaneous albinism IA)), with data on DNA, on the protein encoded, and where the gene is ...
Mendoza, EE, Burd, R
core   +1 more source

Amelanotic melanoma in a patient with oculocutaneous albinism [PDF]

, 2020
Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized decreased or absence of melanin pigment in the eyes, hair, and skin.
Aguado Garcia, A, Valtueña, J, Ruiz-Sanchez, D, Garabito Solovera, EL, Martinez Garcia, G, Garayar Cantero, M, Manchado Lopez, P   +6 more
core   +1 more source

Resistant schizophrenia in a patient with oculocutaneous albinism successfully treated with clozapine

European Psychiatry, 2022
Introduction Several studies have shown an association between oculocutaneous albinism and several neuropsychiatric entities, including schizophrenia.
A. Jelti, F. N’Sabi, F. Kennab, M. Barrimi   +3 more
doaj   +1 more source

Molecular Basis of Oculocutaneous Albinism [PDF]

, 1994
Oculocutaneous albinism (OCA) is a complex group of genetic disorders that have historically been defined by clinical and biochemical methods. Recent advances in the molecular biology of pigmentation have greatly increased our understanding of the ...
Getting, William S, King, Richard A
core   +1 more source

Oculocutaneous Albinism in a Finetooth Shark, Carcharhinus isodon, from Mobile Bay, Alabama [PDF]

, 2006
Albinism has been documented in numerous species of teleosts (Dawson, 1964, 1966, 1971; Dawson and Heal, 1971). However, published accounts of oculocutaneous albino elasmobranches are relatively rare.
Jones, Lisa M., Lisa M. Jones, Robert L. Shipp, Shipp, Robert L.   +3 more
core   +1 more source

Unsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism

American Journal of Ophthalmology Case Reports
Purpose: To report a case of unsuccessful transscleral cyclophotocoagulation in a patient with OCA1A tyrosinase-negative oculocutaneous albinism.
Aaron D. Dotson, John H. Fingert, Erin A. Boese   +2 more
doaj   +1 more source

Oculocutaneous Albinism

, 2021
Dr.
Andrew G. Lee, MD; Israa ShwaikI
core  

Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives [PDF]

, 2022
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities.
Padhi, Tapas Ranjan, Ramamurthy, Srishti, Padhy, Srikanta Kumar, CP, Deepika, Padhy, SK, Neveu, MM, Padhi, TR, Ramamurthy, S, Takkar, B, Jalali, S, Deepika, CP, Robson, Anthony G, Robson, AG, Neveu, Magella M, Takkar, Brijesh, Jalali, Subhadra   +15 more
core   +2 more sources