Results 71 to 80 of about 1,715 (142)
Identification of a Novel Mutation in a Chinese Family with X-Linked Ocular Albinism [PDF]
, 2009 Purpose The purpose of the study was to evaluate the GPR143 gene (G-protein coupled receptor 143) in a Chinese three-generation family with OA1, including four carriers and a proband with clinical features of X-linked ocular albinism. Methods The proband
W. Zhu +5 more
core +1 more source
Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 10, Page 1818-1831, October 2025.The BRAF mutation in acral melanoma is associated with the expression of immune checkpoint molecules—PD‐1, LAG‐3 and TIM‐3—at both protein and mRNA levels. This suggests an association with the tumour microenvironment, including tumour‐associated immune cells, which influence both anti‐tumour immunity and tumour progression.
Hee Joo Yang +6 more
wiley +1 more source
Molecular Ecology Resources, Volume 25, Issue 6, August 2025.ABSTRACT Genomic incompatibilities and differential ecological adaptation are thought to be fundamental mechanisms of speciation. In this study, we generated a chromosome‐scale reference genome and annotation for Gopherus morafkai , the Sonoran Desert tortoise, and conducted a detailed analysis of genes under positive selection with its sister species,
Sarah M. Baty +6 more
wiley +1 more source
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism [PDF]
, 2017 X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical ...
Zhisheng Yuan +6 more
core +1 more source
Dermatological Reviews, Volume 6, Issue 1, February 2025.ABSTRACT Background Melanoma, a highly aggressive skin cancer, demonstrates significant gender disparities, with men facing later‐stage diagnoses, more aggressive tumor characteristics, and worse survival rates. This review examines the biological, behavioral, and environmental factors driving these disparities, alongside recent advancements in ...
Diala Ra'Ed Kamal Kakish +8 more
wiley +1 more source
Deep intronic GPR143 mutation in a Japanese family with ocular albinism [PDF]
, 2015 Deep intronic mutations are often ignored as possible causes of human disease. Using whole-exome sequencing, we analysed genomic DNAs of a Japanese family with two male siblings affected by ocular albinism and congenital nystagmus.
マスダ, キヨシ +22 more
core
Genotypic spectrum of albinism in Mali
Pigment Cell &Melanoma Research, Volume 37, Issue 6, Page 752-761, November 2024.We report the molecular analysis of a series a 23 patients originating from Mali. Four were diagnosed with OCA 1 (oculocutaneous albinism type 1), 17 with OCA 2, and two with OCA 4. Four novel pathogenic variants were identified (two in TYR, two in OCA2).
Modibo Diallo +10 more
wiley +1 more source
Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus [PDF]
, 2015 PURPOSE. Idiopathic infantile nystagmus (IIN; OMIM 31700) with X-linked inheritance is one of the most common forms of infantile nystagmus. Up to date, three X-linked loci have been identified, Xp11.4-p11.3 (calcium/calmodulin-dependent serine protein ...
Devriendt, Koenraad +21 more
core +1 more source
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
Carss, KJ +26 more
core +1 more source
Laser capture microdissection provides a novel molecular profile of human primary cutaneous melanoma
Pigment Cell &Melanoma Research, Volume 37, Issue 1, Page 81-89, January 2024.Comparison of laser capture microdissection (LCM) and whole tissue analysis formolecular profiling of primary human melanoma Created with Biorender.com. Abstract Melanoma accounts for the majority of skin cancer‐related mortality, highlighting the need to better understand melanoma initiation and progression.
Kristina Navrazhina +7 more
wiley +1 more source