Results 111 to 120 of about 8,699 (199)

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

, 2015
KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal
Cormier-Daire, Valérie, Failler, Marion, Nizon, Mathilde, Thomas, Sophie, Sztriha, László, Nitschké, Patrick, Piquand, Kevin, Elkhartoufi, Nadia, Vekemans, Michel, Munnich, Arnold, Pelluard, Fanny, Bessières, Bettina, Encha-Ravazi, Ferechté, Clerget-Darpoux, Françoise, Lyonnet, Stanislas, Saunier, Sophie, Ichkou, Amale, Alby, Caroline, Zombor, Melinda, Laurent, Nicole, Legendre, Marine, Abi-Tayeh, Georges, El Chehadeh-Djebbar, Salima, Huber, Céline, Szabó, Hajnalka, Faivre, Laurence, Garfa-Traore, Meriem, Megarbané, André, Bole, Christine, Attié-Bitach, Tania   +29 more
core   +1 more source

ClioMD: An artificial intelligence model for ciliopathies

Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the emergence of various developmental disorders resulting from defects in cilia ...
TEMEL, ŞEHİME GÜLSÜN, Erol, Kübra Damla, Senturk, Niyazi, Özcelik, Ilkem Özce, Ergören, Mahmut Çerkez, DÜNDAR, MUNİS, Ali, Manal Salah B.   +6 more
core   +1 more source

Editorial: The Cytoskeleton and Cellular Compartmentation: Cilia as Specialized Cellular Domains

Frontiers in Cell and Developmental Biology, 2021
Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Helena Soares, Helena Soares, Susana S. Lopes, Takanari Inoue, Takanari Inoue   +8 more
doaj   +1 more source

Ciliopathy

Nihon Shoni Jinzobyo Gakkai Zasshi, 2012
Nakanishi, Koichi, Yoshikawa, Norishige
openaire   +2 more sources

Du génome humain au modèle murin : compréhension des ciliopathies

, 2020
Ciliopathies are rare diseases caused by primary cilia abnormalities for which at least 20% of patients are still genetically unsolved. The work of this thesis shows all experiments implemented at the Laboratory of Human Genetics to identify ciliopathy ...
Delvallee, Clarisse
core  

Editorial: Genetics and mechanism of ciliopathies

Frontiers in Genetics, 2022
Steven Lim Cho Pei, Brian Hon Yin Chung, Brian Hon Yin Chung   +2 more
doaj   +1 more source

Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease

, 2017
\ua9 2017 Informa UK Limited, trading as Taylor & Francis Group. Introduction: Renal ciliopathies are a class of heterogeneous disorders that can manifest with nephronophthisis, cystic kidneys or renal cystic dysplasia.
Sayer JA, Molinari E
core  

Ciliopathies in Complex Congenital Heart Disease: Molecular Genetics, Embryologic Mechanisms and Clinical Implications. [PDF]

Genes (Basel)
Gagliardi MF, Micaglio E, Micheletti A, Benedetti S, Giordano A, Alonzo BM, Guglielmi G, Negura DG, Giamberti A, Chessa M.   +9 more
europepmc   +1 more source

The nociceptor primary cilium. [PDF]

Brain
Ganter GK, Reveche HC, Fitzsimons LA, Khomula EV, Levine JD, Tucker KL.   +5 more
europepmc   +1 more source

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies. [PDF]

Eur J Clin Invest
Aresi C, Tonelli F, Mazzotta C, Serpieri V, Masiero C, Torriani C, Villani S, Valente EM, Forlino A.   +8 more
europepmc   +1 more source