Results 61 to 70 of about 152,878 (215)

Genetic Analysis of 14 Families with Schnyder Crystalline Corneal Dystrophy Reveals Clues to Ubiad1 Protein Function

open access: yes, 2009
Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids.
Weiss, Jayne S.; Kruth, Howard S.; Kuivaniemi, Helena; Tromp, Gerard; Karkera, Jayaprakash; Mahurkar, Sunil; Lisch, Walter; Dupps, William J; White, Peter S.; Winters, R. Scott; Kim, Chaesik; Rapuano, Christopher J.; Sutphin, John; Reidy, Jim; Hu, Fung-Rong   +1 more
core   +1 more source

HMGCR‐Driven Cholesterol Metabolism Promotes Osteoarthritis Progression by Accelerating Synovial Fibroblast Senescence

open access: yesAdvanced Science, Volume 13, Issue 55, 5 October 2026.
In the pathological context of osteoarthritis (OA), the phosphorylation of AKT1 at Ser473 enhances its binding to Lys140 of Insig1, which facilitates the formation of AKT1–Insig1 complex. Subsequently, the activation of AKT1 promotes the phosphorylation of Insig1 at Ser189, potentially enhancing the dissociation of Insig1 from sterol regulatory element‑
Xiaoqi Zhang   +19 more
wiley   +1 more source

Congenital Dystrophy of the Epithelial Basement Membrane in a Child. Clinical Case

open access: yesOftalʹmologiâ
Corneal dystrophy (CD) is a large group of genetically determined diseases involving one or more corneal layers. It has a progressive course and is not associated with external or systemic factors.
A. V. Pleskova, V. R. Getadaryan
doaj   +1 more source

Multifunctional Hydrogels: Rational Design and Application in Regenerative Medicine

open access: yesMedComm, Volume 7, Issue 10, October 2026.
Multifunctional hydrogels represent a paradigm shift in regenerative medicine, integrating rational material design with bioactive functionality to address complex tissue repair challenges. This review systematically examines the molecular engineering, structure–function relationships, and translational landscape of advanced hydrogel systems, spanning ...
Linyang Song   +4 more
wiley   +1 more source

Small Proteoglycans, Big Impact: Decorin, Biglycan, and Asporin in Musculoskeletal Tissue Health and Disease

open access: yesProteoglycan Research, Volume 4, Issue 4, October 2026.
ABSTRACT The extracellular matrix (ECM) is a dynamic and information‐rich network that integrates structural support with biochemical and mechanical signaling. Among its key regulatory components are the Small Leucine‐Rich Proteoglycans (SLRPs), a family of matrix molecules that coordinate extracellular architecture with cell signaling.
Alessandra Leone   +2 more
wiley   +1 more source

First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy [PDF]

open access: yes, 2014
Purpose: To report the observation of a triple corneal dystrophy association consisting of keratoconus (KC), epithelial basement membrane corneal dystrophy (EBMCD) and Fuchs' endothelial corneal dystrophy (FECD).
Frederik Raiskup   +9 more
core   +1 more source

Hyaluronan in Ocular Surface Health and Disease: From Biological Mechanisms to Therapeutic Applications

open access: yesProteoglycan Research, Volume 4, Issue 4, October 2026.
ABSTRACT Hyaluronan (HA) is an ubiquitous non‐sulfated glycosaminoglycan with unique physicochemical and biological properties that underpin its essential roles in tissue homeostasis, repair, and diseases. First identified in the vitreous humor of the eye, HA has a long‐standing history in ophthalmology as a key component of ophthalmic visco‐surgical ...
Sudhir Verma   +3 more
wiley   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

open access: yesJournal of the European Academy of Dermatology and Venereology, Volume 40, Issue 10, Page 1626-1647, October 2026.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz   +49 more
wiley   +1 more source

Corneal dystrophy in a cocker spaniel dog: a case report

open access: yesAtti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2017
A 1-year-old female Cocker Spaniel dog was examined at the ophthalmology service of the Veterinary Teaching Hospital - University of Messina (Italy) for evaluation of symmetrical white spots in both corneas and “red eyes”.
Monica Ragusa   +4 more
doaj   +1 more source

TGFBI gene mutations in Brazilian patients with corneal dystrophy [PDF]

open access: yes, 2007
Purpose To investigate the transforming growth factor beta-induced gene ( TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotype genotype correlation in these patients.Methods A total of 11 unrelated families were ...
Burnier, M. N.   +11 more
core   +1 more source

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