Results 41 to 50 of about 6,439 (248)

Oculocutaneous Albinism

Journal of Bharatpur Hospital
Oculocutaneous albinism (OCA) is a group of inherited autosomal recessive disorders characterized by reduced or absent melanin production, affecting pigmentation in the skin, hair, and eyes. This leads to significant visual impairments, including foveal hypoplasia (underdevelopment of the central retina), nystagmus (involuntary eye movements), and ...
Shristi Phauja, Reeya Shah, Pragya Singh, Sarita Bhattarai, Anju Shrestha   +4 more
  +5 more sources

Programmable base editing of zebrafish genome using a modified CRISPR-Cas9 system. [PDF]

, 2017
Precise genetic modifications in model animals are essential for biomedical research. Here, we report a programmable "base editing" system to induce precise base conversion with high efficiency in zebrafish. Using cytidine deaminase fused to Cas9 nickase,
Bai, Haipeng, Huang, Haigen, Li, Song, Lin, Shuo, Lu, Xiaochan, Qin, Wei, Xu, Jason, Zhang, Yihan   +7 more
core   +1 more source

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet Journal of Rare Diseases, 2019
Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with ...
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico   +11 more
doaj   +1 more source

Histological Review of Skin cancers in African Albinos: A 10-year Retrospective Review. [PDF]

, 2014
Skin cancer is rare among Africans and albinism is an established risk for skin cancer in this population. Ultraviolet radiation is highest at the equator and African albinos living close to the equator have the highest risk of developing skin cancers ...
A Yakubu, AN Okoro, Baraka Michael Chaula, DS Rigel, GA Alexander, Helmut Beltraminelli, HM Gloster Jr, J Higgenson, J Luande, JB Mabula, JG Kromberg, K Grønskov, KO Opara, PM Lund, Samson Kimaiyo Kiprono, SR McBride, T Brenn, TL Diepgen, TR Fears, TW Ridky   +19 more
core   +2 more sources

Making the invisible visible [PDF]

, 2016
In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from ...
Ando, Attié, Badolato, Barnett, Basmanav, Betz, Bin, Boissy, Bondurand, Bultema, Byers, Clark, Courcet, Cui, Cullinane, Cullinane, Dauphinee, Dell’Angelica, Di Pietro, Edery, Fischer, Gerondopoulos, Giebel, Giebel, Helip-Wooley, Hume, Hume, Iqbal, Ji, Kono, Kumano, Lee, Li, Lugassy, Lugassy, Luzio, Maurice A.M. van Steensel, McGlinchey, Miyamura, Murphy, Ménasché, Ménasché, Nagle, Newton, Olivares, Pastural, Pingault, Planko, Potterf, Puri, Qiu, Sato-Jin, Sckolnick, Sepulveda, Setty, Singh, Sitaram, Sánchez-Martín, Tassabehji, Tassabehji, Theos, Uttam, Vachtenheim, Van Raamsdonk, Van Steensel, Van Steensel, Weber, Wei, Wilson, Winder, Wu, Yamaguchi, Zazo Seco, Zhang, Zucca   +74 more
core   +2 more sources

Genetic testing for ocular albinism and oculocutaneous albinism

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism.
Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family [PDF]

Iranian Journal of Public Health, 2010
"nBackground: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The muta­tion on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of
H Pour-Jafari, A Zamanian, B Pour-Jafari
doaj   +2 more sources

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

Oculocutaneous albinism and autism: a case report and review of literature [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2013
Autistic disorder is a highly heritable disorder characterized by impaired communication, social interaction, and repetitive behaviors. Several inherited medical and psychological disorders have been reported in association with childhood autism and many
selma tural hesapcioglu
doaj  

Detailed Retinal Imaging In Carriers Of Ocular Albinism [PDF]

, 2017
BACKGROUND: Albinism refers to a group of disorders primarily characterized by hypopigmentation. Affected individuals usually manifest both ocular and cutaneous features of the disease, but occasionally hair and skin pigmentation may appear normal. This
Ali, M, Arno, G, Carss, KJ, Inglehearn, CF, Islam, F, Khan, KN, Lord, EC, Michaelides, M, Moore, AT, Poulter, JA, Raymond, FL, Toomes, C, Webster, AR   +12 more
core   +2 more sources