Results 61 to 70 of about 6,439 (248)
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 +3 more
openaire +2 more sources
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 +6 more
doaj +1 more source
Human pigmentation genes under environmental selection [PDF]
, 2012 Genome-wide association studies and comparative genomics have established major loci and specific polymorphisms affecting human skin, hair and eye color. Environmental changes have had an impact on selected pigmentation genes as populations have expanded
Duffy, David L., Sturm, Richard A.
core +1 more source
Rare Germline Variants in CDKN2A‐Negative Children and Adolescents With Cutaneous Melanoma
Pigment Cell &Melanoma Research, Volume 39, Issue 2, March 2026.Individuals with childhood and adolescent melanoma carry inherited mutations in shelterin complex genes, pigmentation genes and MBD4, but have fewer MC1R R‐alleles than adults with melanoma. Created with BioRender.com. ABSTRACT Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a
Peter A. Johansson +10 more
wiley +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 +6 more
doaj +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +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 +3 more
doaj +1 more source
Molecular Ecology, Volume 35, Issue 1, January 2026.ABSTRACT Colour polytypism represents an example of phenotypic diversification shaped by genetic divergence and ecological pressures. Poison frogs of the genus Oophaga (Dendrobatidae) are highly polytypic in coloration, making them an ideal system for investigating the genetic and physiological basis of colour variation.
Vasiliki Mantzana‐Oikonomaki +7 more
wiley +1 more source
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