Results 111 to 120 of about 9,301 (255)
European Journal of Pediatrics, 2011 Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies.
openaire +2 more sources
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency
Clinical Genetics, EarlyView.We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts +8 more
wiley +1 more source
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study
Journal of Diabetes Investigation, EarlyView.Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba +5 more
wiley +1 more source
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [PDF]
, 2014 Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, R. +14 more
core +2 more sources
Hyperphagia in Bardet–Biedl syndrome: Pathophysiology, burden, and management
Obesity Reviews, EarlyView.Summary Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous, and highly pleiotropic autosomal recessive ciliopathy. Patients typically present with early loss of vision, hyperphagia, severe obesity, learning difficulties, and renal dysfunction. In patients with BBS, dysfunction of the immotile primary cilia in the hypothalamic melanocortin‐
Philip L. Beales +7 more
wiley +1 more source
Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]
, 2016 Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar +44 more
core +2 more sources
Mitochondrial control of ciliary gene expression and structure in striatal neurons
The Journal of Physiology, EarlyView.Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen +5 more
wiley +1 more source
Stem Cell Research, 2018 Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement.
Jessica Rosati +10 more
doaj
Survivin-induced abnormal ploidy contributes to cystic kidney and aneurysm formation [PDF]
, 2014 BACKGROUND: Cystic kidneys and vascular aneurysms are clinical manifestations seen in patients with polycystic kidney disease, a cilia-associated pathology (ciliopathy).
AbouAlaiwi, Wissam A. +12 more
core +2 more sources
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source