Results 121 to 130 of about 13,378 (282)
Ciliary Hedgehog signaling regulates cell survival to build the facial midline
eLife, 2021 Craniofacial defects are among the most common phenotypes caused by ciliopathies, yet the developmental and molecular etiology of these defects is poorly understood.
Shaun R Abrams, Jeremy F Reiter
doaj +1 more source
Limited time window for retinal gene therapy in a preclinical model of ciliopathy
bioRxiv, 2020 Retinal degeneration is a common clinical feature of ciliopathies, a group of genetic diseases linked to ciliary dysfunction, and gene therapy is an attractive treatment option to prevent vision loss. Although the efficacy of retinal gene therapy is well
Poppy Datta, Avri Ruffcorn, Seongjin Seo
semanticscholar +1 more source
How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility
Andrology, Volume 13, Issue 5, Page 1011-1024, July 2025.Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer +2 more
wiley +1 more source
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]
, 2017 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia +7 more
core +1 more source
Translational Retinal Research and Therapies. [PDF]
, 2018 The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D +7 more
core +1 more source
Ciliopathies: an expanding disease spectrum [PDF]
Pediatric Nephrology, 2011 Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal ...
Aoife M. Waters, Philip L. Beales
openaire +3 more sources
The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex
Frontiers in Cell and Developmental Biology, 2021 The primary cilium, a microtubule based organelle protruding from the cell surface and acting as an antenna in multiple signaling pathways, takes center stage in the formation of the cerebral cortex, the part of the brain that performs highly complex ...
Kerstin Hasenpusch-Theil +3 more
doaj +1 more source
Ciliopathies: Genetics in Pediatric Medicine [PDF]
Journal of Pediatric Genetics, 2016 Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings.
Machteld M. Oud +3 more
openaire +4 more sources
Congenital hepatic fibrosis: case report and review of literature
The Pan African Medical Journal, 2021 Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease
Brahim El Hasbaoui +6 more
doaj +1 more source
Journal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.ABSTRACT Background Cleft palate (CP) is a congenital defect characterized by an opening in the palate. Two crossbred paternal half‐sibs with a complex syndrome including CP were identified. Hypothesis/Objectives Characterize disease phenotype and evaluate the genetic cause of the observed syndrome.
Marilena Bolcato +5 more
wiley +1 more source