Results 61 to 70 of about 5,505 (212)
Optical coherence tomography angiography of foveal hypoplasia [PDF]
, 2017 AIMS: To discuss foveal development in the context of detailed retinal vasculature imaging in foveal hypoplasia using optical coherence tomography angiography.
Cardoso, JN +4 more
core
Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity [PDF]
The SLC45A2 gene encodes a Membrane-Associated Transporter Protein (MATP). Mutations of this gene cause oculocutaneous albinism type 4 (OCA4). However, the molecular mechanism of its action in melanogenesis has not been elucidated.
Bhin, J +10 more
core +1 more source
, 2008 Melanosomes, the pigment granules that provide tissues with colour and photoprotection, are the cellular site of synthesis, storage and transport of melanin pigments.
Bolasco, G. +3 more
core +2 more sources
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers +3 more
wiley +1 more source
Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing [PDF]
Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i ArākIntroduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White
Parto Hekmatpou +4 more
doaj
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 +7 more
doaj +1 more source
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 +7 more
doaj +1 more source
MUTASI MISSENSE (P.374PHE/LEU) PADA EKSON 5 GEN MATP, PENYEBAB OCULOCUTANEOUS ALBINISM TIPE 4 (OCA4) DI WONOSOBO, JAWA TENGAH [PDF]
, 2011 Albinisme merupakan kelainan genetik autosomal resesif berupa gangguan sintesis melanin yang terjadi pada manusia. Albinisme dibagi menjadi dua kelompok besar, yaitu Ocular Albinism (OA) dan Oculocutaneous Albinism (OCA).
Pratiwi, Rarastoeti +2 more
core +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Transporters
British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source