Results 101 to 110 of about 12,076 (219)
Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +1 more source
Using Zebrafish to Study Multiciliated Cell Development and Disease States
CellsMulticiliated cells (MCCs) serve many important functions, including fluid propulsion and chemo- and mechanosensing. Diseases ranging from rare conditions to the recent COVID-19 global health pandemic have been linked to MCC defects. In recent years, the
Thanh Khoa Nguyen +4 more
doaj +1 more source
Retinitis pigmentosa: evaluation of the vestibular system with cervical and ocular vestibular evoked myogenic potentials and the video head impulse test [PDF]
, 2015 OBJECTIVE: Retinitis pigmentosa (RP) represents a group of inherited disorders in which abnormalities of the photoreceptors lead to progressive visual loss.
GAGLIARDI, SILVIA +6 more
core +1 more source
Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.This study establishes a GeLC‐MS/MS‐based serum proteomics workflow for canine oral oncology to differentiate malignancies from non‐malignant conditions. Comprehensive protein profiling, pathway analysis and protein–drug interaction mapping reveal candidate biomarkers and insights into the pathogenesis of canine oral cancers.
Sekkarin Ploypetch +4 more
wiley +1 more source
Cranioectodermal dysplasia: A probable ciliopathy
American Journal of Medical Genetics Part A, 2009 AbstractCranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end‐stage renal failure.
Konstantinidou, A.E. +8 more
openaire +3 more sources
European Journal of Clinical Investigation, Volume 56, Issue 5, May 2026.A zebrafish morpholino knockdown model targeting ahi1 enables efficient phenotypic assessment of ciliopathy‐related defects and functional evaluation of variants of uncertain significance. This assay clarifies the impact of VUSs, supporting zebrafish morphants as a reliable platform for validating ciliopathy‐associated genetic variants.
Carla Aresi +8 more
wiley +1 more source
New functions of B9D2 in tight junctions and epithelial polarity
Scientific ReportsCiliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating
Chloe Caenen-Braz +2 more
doaj +1 more source
Centriole Duplication at the Crossroads of Cell Cycle Control and Oncogenesis
CellsCentriole duplication is a vital process for cellular organisation and function, underpinning essential activities such as cell division, microtubule organisation and ciliogenesis.
Claude Prigent
doaj +1 more source
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks [PDF]
, 2016 This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases termed ...
Barker, AR +3 more
core +1 more source