Results 101 to 110 of about 9,217 (165)

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

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel [PDF]

Background Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease.Methods To
Meyer B, Sayer JA, Khalil D, El-Kalioby M, Alabdullah Z, Abudraz R, Binhumaid FS, Majid S, Al-Hamed MH, Kurdi W, Edwards N, Alnemer M, Al-Jurayb H, Tulbah M, Alsahan N, Monies D, Faquih T, Tahir AI, Alahmed A, Altassan N, Albaqumi M, Khan R, Al Abdulaziz B, Abouelhoda M   +23 more
core  

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies. [PDF]

Genome Biol
Aarts EM, Laman Trip DS, Neatu R, Martin CG, Riley B, Kraus A, Green A, Al-Hamed MH, Armstrong RE, Sayer JA, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis. [PDF]

Biomed Res Int
Dong Q, Zhu J, Liu J, Xu H.
europepmc   +1 more source

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts. [PDF]

Genome Med
Favier A, Chounta S, Garcia A, Jabot-Hanin F, Chen X, Garcelon N, Burgun A, Higueras M, Guilloux A, Benmerah A, Martin Y, Billot K, Rozet JM, Perrault I, Cormier-Daire V, Huber C, Zaidan M, Attie-Bitach T, Saunier S, Rausell A.   +19 more
europepmc   +1 more source

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of NPHP1 ciliopathy-gene transcripts

Ciliopathies are a class of multi-systemic genetic diseases characterized by ciliary dysfunction. Here, we report a novel ANKS3 variant in patients with a renal ciliopathy known as nephronophthisis (NPH) associated with hepatic defects.
Odye, Gweltas, Mahuzier, Alexia, Viau, Amandine, Henry, Charline, Jeanpierre, Cécile, Müller, Florian, Kahn, Agathe, Ryan, Rebecca, Benmerah, Alexandre, Blisnick, Thierry, Clark, Euan, Krug, Pauline, Saunier, Sophie, Grampa, Valentina, Knebelmann, Bertrand, Saint-Mezard, Pierre, Piedagnel, Rémi, Delous, Marion, Bizet, Albane, Silbermann, Flora, Bastin, Philippe, Lelongt, Brigitte, Hayot, Gaelle, de Grande, Line, Plaza, Jean-Marc, Hoffmann, Sigrid, Mehraz, Manon, Sailer, Andreas   +27 more
core   +1 more source

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

Front Genet
Chretien M, Osouf J, Abel C, Afenjar A, Attie-Bitach T, Brischoux-Boucher E, Burglen L, Calmels N, Chassaing N, Courtin T, Delanne J, Doco-Fenzy M, Dubourg C, Durand B, Chehadeh SE, Faivre L, Garde A, Ginglinger E, Haushalter V, Haye D, Heide S, Heidet L, Heron D, Jacquin C, Lambert L, Lamouche JB, Laugel V, Bechec AL, Lehalle D, Michel-Calemard L, Ramirez EM, Muller J, Odent S, Patat O, Piard J, Poirsier C, Putoux A, Quelin C, Racine C, Sananes N, Schalk A, Scheidecker S, Thauvin-Robinet C, Valence S, Weingertner AS, Wourms J, Dollfus H, Gerard B, Schluth-Bolard C, Schaefer E.   +49 more
europepmc   +1 more source

Correction: Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis. [PDF]

Sci Rep
Epting D, Devane J, Mertes R, Kayser S, Helmstädter M, Metzger P, Boerries M, Bergmann C, Ott E.   +8 more
europepmc   +1 more source

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

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