Results 81 to 90 of about 6,439 (248)

Guanine Nucleotide Exchange Factors and Small GTPases: Their Regulation and Functions, Diseases, and Therapeutic Targets

MedComm, Volume 6, Issue 10, October 2025.
This review comprehensively examines the regulatory mechanisms and physiological roles of guanine nucleotide exchange factors (GEFs) and their small GTPase substrates, highlighting their significance in cellular processes and disease pathogenesis.
Zexing Lin, Chujun Ni, Haiyang Jiang, Huan Yang, Liting Deng, Peizhao Liu, Xuanheng Li, Yilong Yu, Weijie Li, Runnan Wang, Bo Liao, Jiaqi Kang, Juanhan Liu, Xiuwen Wu, Jianan Ren, Yun Zhao   +15 more
wiley   +1 more source

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Platelets, 2021
Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome‐related organelles. Ten genes are associated with different forms of HPS.
Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean-Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler   +8 more
doaj   +1 more source

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4 [PDF]

, 2021
Charlotte C. Kruijt, Nicoline E. Schalij‐Delfos, Gerard C. de Wit, Ralph J. Florijn, Maria M. van Genderen   +4 more
openalex   +1 more source

Molecular Basis of Oculocutaneous Albinism.

Journal of Investigative Dermatology, 1994
Oculocutaneous albinism (OCA) is a complex group of genetic disorders that have historically been defined by clinical and biochemical methods. Recent advances in the molecular biology of pigmentation have greatly increased our understanding of the complexity of this group of disorders.
Getting, William S, King, Richard A
openaire   +2 more sources

Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. [PDF]

, 2015
The organization and folding of chromatin within the nucleus can determine the outcome of gene expression. Recent technological advancements have enabled us to study chromatin interactions in a genome-wide manner at high resolution.
Ahituv, Nadav, Matharu, Navneet
core   +1 more source

A recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2

Animal Genetics, Volume 56, Issue 5, October 2025.
Abstract Three colors of Dexter cattle are currently recognized: black, red, and dun. In Dexters, dun is determined by a recessive genotype of TYRP1 (b/b) that dilutes an otherwise black animal (MC1R genotype ED/−); this variant does not impact red cattle.
Anna M. Fuller, Carol Davidson, Jessica L. Petersen   +2 more
wiley   +1 more source

Oculocutaneous albinism: an African perspective

British and Irish Orthoptic Journal, 2014
Aim:  To describe the genetics behind oculocutaneous albinism (OCA), and explore OCA in an African context in terms of the effects on the health and education of individuals with OCA.
Geraldine R. Mcbride
doaj   +1 more source

Functional and Morphological Plasticity of the Endolysosomal System: Pigment Organelles at the Crossroads of Physiology and Pathology

Biology of the Cell, Volume 117, Issue 10, October 2025.
The morphodynamical plasticity of the endolysosomal system supports the formation and function of specialized intracellular compartments, as exemplified by the pigment organelles in skin cells. In epidermal melanocytes and keratinocytes, membrane trafficking and remodeling coordinate tissue pigmentation and protect the genome from photodamage ...
Laura Salavessa, Myckaëla Rouabah, Paula Pernea, Smail Hadj‐Rabia, Cédric Delevoye   +4 more
wiley   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

گزارش اولين مورد سندرم فاميلی آلبينيسم چشمی ـ پوستی نوزادی در همراهی با سندرم [PDF]

, 2007
مقدمه: آلبينيسم شامل گروهی از شرايط بالينی می‌باشد که به صورت ارثی منتقل می‌گردند. در مبتلايان به بيماری، رنگدانه ملانين در چشم، پوست و مو، کم است يا وجود ندارد.
خالصی, نسرین, صالحی, فرود, کشاورز, کامبیز   +2 more
core