Results 51 to 60 of about 7,886 (197)

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

Biomedical Papers, 2015
Background: Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the ...
Marzena Kucharczyk, Aleksandra Jezela-Stanek, Dorota Gieruszczak-Bialek, Monika Kugaudo, Agata Cieslikowska, Magdalena Pelc, Malgorzata Krajewska-Walasek   +6 more
doaj   +1 more source

Dermatoscopy of pigmented melanocytic nevi in patients with oculocutaneous albinism

, 2009
Oculocutaneous albinism is a group of rare inherited disorders of pigmentation. Some albinos may have a certain degree of melanin production and, consequently, may develop pigmented lesions during their lives.
ZALAUDEK, IRIS
core   +2 more sources

Dopachrome tautomerase variants in patients with oculocutaneous albinism [PDF]

, 2021
Purpose: Albinism is a clinically and genetically heterogeneous condition. Despite analysis of the 20 known genes, ~30% patients remain unsolved. We aimed to identify new genes involved in albinism.
Josseline Kaplan, Sophie Javerzat, Arveiler, Benoit, Lacombe, Didier, Jackson, Ian J, Gazova, Ivet, Javerzat, Sophie, Iveta Gazova, Plaisant, Claudio, Benoit Arveiler, Ian Jackson, Vincent Michaud, Cédric Delevoye, Marlin, Sandrine, GAZOVA, Iveta, Kaplan, Josseline, Delevoye, Cédric, Angèle Tingaud-Sequeira, Claudio Plaisant, GHERBI HALEM, Souad, Halem, Souad Gherbi, Sandrine Marlin, Michaud, Vincent, Lasseaux, Eulalie, Perrine Pennamen, Souad Gherbi Halem, Lisa McKie, Pennamen, Perrine, Margaret Keighren, Keighren, Margaret, McKie, Lisa, JACKSON, Ian, Eulalie Lasseaux, Didier Lacombe, Tingaud-Sequeira, Angele   +34 more
core   +1 more source

Children with albinism in African regions: their rights to ‘being’ and ‘doing’

BMC International Health and Human Rights, 2018
Background Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and ...
Anita Franklin, Patricia Lund, Caroline Bradbury-Jones, Julie Taylor   +3 more
doaj   +1 more source

A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

BMC Genetics, 2012
Background Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation ...
Damé Maria Cecília, Xavier Gildenor, Oliveira-Filho José, Borges Alexandre, Oliveira Henrique, Riet-Correa Franklin, Schild Ana   +6 more
doaj   +1 more source

Oculocutaneous albinism with iridofundal coloboma [PDF]

BMJ Case Reports, 2018
A 20-year-old woman presented to the retina clinic with complaints of diminution of vision, photophobia and involuntary movement of both eyes since birth. The patient had light-coloured skin complexion along with golden hair. Best corrected visual acuity was 1/60 and 4/60 in the right and left eyes, respectively.
Gunjan Saluja, Shorya Vardhan Azad, Amar Pujari, Shreyas Temkar   +3 more
openaire   +2 more sources

Clinical features and mutations for four Chinese patients of Oculocutaneous albinism.

, 2015
* A novel mutation.Clinical features and mutations for four Chinese patients of Oculocutaneous albinism.
Ning Fan (731019), Lu Liu (171341), Xuyang Liu (310954), Zhi Wang (193655), Yun Wang (32846), Mengping Chen (731018), Jie Yang (121778), Ying Wang (11406)   +7 more
core   +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

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

Automated Profiling of Social Behaviors to Assess the Genetic Basis of Evolution of Aggressive Behaviors in Astyanax mexicanus

Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 345, Issue 5, Page 486-497, June 2026.
ABSTRACT Across the animal kingdom, social behaviors such as aggression are critical for survival and reproductive success. While there is significant variation in social behaviors within and between species, the genetic mechanisms underlying natural variation in social behaviors are poorly understood.
Renee Mapa, Stefan Choy, Solomia Lapko, Allison Kimmel, Isabel Carino‐Bazan, Johanna E. Kowalko   +5 more
wiley   +1 more source