Results 41 to 50 of about 3,749 (193)

Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case

Вопросы современной педиатрии, 2021
Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name.
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova   +9 more
doaj   +1 more source

The Coexistence of Oculocutaneous Albinism with Schizophrenia [PDF]

Cureus, 2020
Oculocutaneous albinism (OCA) is an extremely rare skin disorder which occurs in 0.005% of the world population, whereas schizophrenia is a rare mental illness which affects 1% of the world population. Researchers have spent much time searching for the causes of schizophrenia, as they are still largely unknown.
Tsai, Alicia L, Agustines, Davin
openaire   +2 more sources

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

, 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

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

, 2021
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an ...
BP Brooks (9883733), HJ Kuht (10129634), Aamir, Abdullah, A Aamir (10129631), Grønskov, Karen, Thomas, Mervyn G., MG Thomas (7665839), K Grønskov (10134551), Kuht, Helen J., Brooks, Brian P.   +9 more
core   +1 more source

Hermansky-Pudlak syndrome

Muller Journal of Medical Sciences and Research, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma   +4 more
doaj   +1 more source

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. [PDF]

, 2017
We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes.
Caduff, Madleina, Madleina Caduff, Vidhya Jagannathan, Jagannathan, Vidhya, Anina Bauer, Bauer, Anina Estrella, Leeb, Tosso, Tosso Leeb   +7 more
core   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Quality of life in patients with oculocutaneous albinism [PDF]

Anais Brasileiros de Dermatologia, 2015
BACKGROUND:The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.OBJECTIVE:As this subject has not ...
Marcus Maia, Beatrice Mussio Fornazier Volpini, Gabriela Alves dos Santos, Maria Josefa Penon Rujula   +3 more
doaj   +1 more source

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism

Frontiers in Genetics, 2021
BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene.
Linya Ma, Jianjian Zhu, Jing Wang, Yazhou Huang, Jibo Zhang, Chao Wang, Yuan Zhou, Dan Peng, Dan Peng   +8 more
doaj   +1 more source

ASIP Variants in Livestock: It's Not Black and White

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT Fur and feather pigmentation play an important role in the survival and reproduction of many species, as well as in selective breeding and agriculture. The synthesis of pigment molecules, eumelanin and pheomelanin, is partially regulated by the agouti signalling protein (ASIP) encoded by the ASIP gene.
Isabella M. Brown, Kylie A. Munyard
wiley   +1 more source