Results 51 to 60 of about 7,863 (174)

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

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

Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle

Genetics Selection Evolution, 2017
Background Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype.
Sophie Rothammer, Elisabeth Kunz, Doris Seichter, Stefan Krebs, Martina Wassertheurer, Ruedi Fries, Gottfried Brem, Ivica Medugorac   +7 more
doaj   +1 more source

Exploring the occupational engagement experiences of individuals with oculocutaneous albinism: an eThekwini District study

South African Journal of Occupational Therapy, 2020
Background and aim: The World Federation of Occupational Therapists' urges occupational therapists to recognise when people are being denied the right to participate in occupations and advocate for change. People with oculocutaneous albinism face stigma
Lara Mather, Thavanesi Gurayah, Dr Deshini Naidoo, Henna Nathoo, Fortune Feresu, Nhlanhla Dlamini, Trinity Ncube, Zuleika Patel   +7 more
doaj   +1 more source

The prevalence of nonmelanoma skin cancer in a population of patients with oculocutaneous albinism in Haiti

, 2022
Background Multiple studies have examined the prevalence of nonmelanoma skin cancers (NMSC) in patients with oculocutaneous albinism (OCA). However, to date, no studies have examined this data in Caribbean populations.
Louis, Shesly J., Fethiere, Myriam, Dure, Danie, Morrison, Brian W., Hassan, Shahzeb, Shahzeb Hassan, Jordan Rosen, Rosen, Jordan, Myriam Fethiere, Danie Dure, Brian W. Morrison, Shesly J. Louis   +11 more
core   +1 more source

Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism [v1; ref status: indexed, http://f1000r.es/2lw]

F1000Research, 2014
Background: Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA.  However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.
Mickaila Johnston, Whitney Winham, Nicole Massoll, Jerad M. Gardner   +3 more
doaj   +1 more source

Clinical and mutational characteristics of oculocutaneous albinism type 7. [PDF]

Sci Rep
The purpose of this paper is to expand on the phenotype of oculocutaneous albinism type 7 (OCA7). We described three patients with OCA7: two from a consanguineous family of Kurdish origin and one patient of Dutch origin.
Kruijt CC, de Wit GC, van Minderhout HM, Schalij-Delfos NE, van Genderen MM.   +4 more
europepmc   +3 more sources

Studies on serum level of some trace elements in oculocutaneous albinism subjects in Owerri metropolis [PDF]

, 2020
Studies on serum level of some trace elements in oculocutaneous albinism subject in Owerri metropolis was carried out using standard methods. Sixty (60) volunteer subjects made of 30 male and 30 female were used for the study.
Kaosisochukwu, Catherine, Chimaraoke, Onyeabo, Ijeoma, Nosiri Chidi, Chidimma, Akanazu, Magnus, Nsonwu, Constance, Nwadike, Nkeiruka, Olly-Alawuba, Catherine, Onyejekwe   +7 more
core   +1 more source