Results 81 to 90 of about 11,057 (243)

Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?

Clinical Case Reports, 2023
Key Clinical Message We present the case of a 41‐year‐old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD).
Romina Bucci, Francesca Tunesi, Liliana Italia De Rosa, Paola Carrera, Giulia Mancassola, Martina Catania, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi   +7 more
doaj   +1 more source

Why Homoscleromorph Sponges Have Ciliated Epithelia: Evidence for an Ancestral Role in Mucociliary Driven Particle Flux

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Epithelia are typically ciliated, except in sponges. Of all Porifera only Homoscleromorphs have motile cilia on their epithelia. Our data highlight the presence of cilia and mucociliary particle transport as a common feature of metazoa and a secondary loss in other sponge lineages.
Veronica L. Price, Anudi Nanayakkara, Andrea Pasini, Elsa Bazellières, Amelie Vernale, Caroline Rocher, Carole Borchiellini, Andre Le Bivic, Emmanuelle Renard, Sally P. Leys   +9 more
wiley   +1 more source

Mechanisms of Nephronophthisis and Related Ciliopathies [PDF]

Nephron Experimental Nephrology, 2010
An emerging group of human genetic diseases termed ‘ciliopathies’ are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium. These organelles are central to perception of the physical environment through detection of a diverse variety of extracellular signals such as growth factors, chemicals, light ...
Friedhelm Hildebrandt, Toby W. Hurd
openaire   +2 more sources

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant

Prenatal Diagnosis, EarlyView.
Abstract Joubert syndrome is a rare autosomal recessive ciliopathy defined by the “molar tooth” sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling ...
Tamara Casteleyn, Markus Vogt, Alexander Weichert, Béla Zimmer, Birgit Lala, Wolfgang Henrich, Josefine Theresia Königbauer   +6 more
wiley   +1 more source

Primary cilia and actin regulatory pathways in renal ciliopathies

Frontiers in Nephrology
Ciliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital heart defects, and anomalies of the retina or skeletal ...
Rita Kalot, Rita Kalot, Zachary Sentell, Thomas M. Kitzler, Thomas M. Kitzler, Elena Torban, Elena Torban   +6 more
doaj   +1 more source

Fetal ciliopathies: a retrospective observational single-center study

Archives of Gynecology and Obstetrics, 2021
Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such ...
C. Simonini, Anne Floeck, B. Strizek, Andreas Mueller, U. Gembruch, A. Geipel   +5 more
semanticscholar   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Ocular manifestations of renal ciliopathies

Pediatric Nephrology, 2023
AbstractRenal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human ...
Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige   +4 more
openaire   +3 more sources

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging (neurosonography and intrauterine magnetic resonance imaging) of fetuses ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

Frontiers in Molecular Biosciences, 2022
Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato, Brais Bea-Mascato, Elena Neira-Goyanes, Elena Neira-Goyanes, Antía Iglesias-Rodríguez, Antía Iglesias-Rodríguez, Diana Valverde, Diana Valverde   +7 more
doaj   +1 more source