Genetics of canine myxomatous mitral valve disease

MJ O'Brien, NJ Beijerink, CM Wade - Animal genetics, 2021 - Wiley Online Library
Myxomatous mitral valve disease (MMVD) is the most common heart disease and cause of
cardiac death in domestic dogs. MMVD is characterised by slow progressive myxomatous …

Laser prophylaxis in patients with Stickler syndrome

S Khanna, SH Rodriguez, MA Blair, K Wroblewski… - Ophthalmology …, 2022 - Elsevier
Purpose To evaluate the association among laser prophylaxis treatment, retinal detachment
(RD), and visual acuity (VA) in patients with Stickler syndrome (SS). Design Retrospective …

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report

KB Boysen, Z Tümer, D Bach-Holm… - Ophthalmic …, 2024 - Taylor & Francis
Background Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in
collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome …

Genetically inspired organoids prevent joint degeneration and alleviate chondrocyte senescence via Col11a1–HIF1α‐mediated glycolysis–OXPHOS metabolism shift

Y Sun, Y You, Q Wu, R Hu, K Dai - Clinical and Translational …, 2024 - Wiley Online Library
Introduction Developmental dysplasia of hip (DDH) is a hip joint disorder leading to
subsequent osteoarthritis. Previous studies suggested collagen XI alpha 1 (COL11A1) as a …

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review

R Procopio, JS Pulido, KB Gunton, ZA Syed, D Lee… - Genes, 2023 - mdpi.com
Importance: The options for genetic testing continue to grow for ocular conditions, including
optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and …

Genetic testing in four Indian families with suspected Stickler syndrome

S Kandeeban, K Kandale, P Periyasamy… - Indian Journal of …, 2022 - journals.lww.com
Purpose: Stickler syndrome is associated with the development of rhegmatogenous retinal
detachment (RRD), and often presents with ocular, auditory, skeletal, and orofacial …

An Emergent Nexus between Striae and Thoracic Aortic Dissection

BJ Landis, CE Vujakovich, LR Elmore, ST Pillai, LS Lee… - Genes, 2021 - mdpi.com
Current approaches to stratify the risk for disease progression in thoracic aortic aneurysm
(TAA) lack precision, which hinders clinical decision making. Connective tissue phenotyping …

[PDF][PDF] Prenatal suspicion of Stickler Syndrome without known familial history: a possibility?–Case report Suspeita Pré-natal de Síndrome de Stickler sem história …

AC Borges, C Marques, N Teixeira… - Acta Obstet Ginecol …, 2024 - fspog.org
A síndrome de Stickler (SS) é um grupo de doenças hereditárias que afeta o tecido
conjuntivo e se caracteriza por anomalias orofaciais, oculares, esqueléticas e auditivas. A …

Genetics and genomics of myxomatous mitral valve disease in dogs

MJ O'Brien - 2022 - ses.library.usyd.edu.au
As a result of its unique evolutionary history, the modern dog (Canis lupus familiaris) has a
simplified genetic landscape that makes it a strong model for investigating the genetic basis …