Results 121 to 130 of about 12,876 (273)

Cranioectodermal dysplasia: A probable ciliopathy

American Journal of Medical Genetics Part A, 2009
AbstractCranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end‐stage renal failure.
Konstantinidou, A.E., Fryssira, H., Sifakis, S., Karadimas, C., Kaminopetros, P., Agrogiannis, G., Velonis, S., Nikkels, P.G.J., Patsouris, E.   +8 more
openaire   +3 more sources

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants

Molecular Genetics & Genomic Medicine
Background Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end‐stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation ...
Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang   +6 more
doaj   +1 more source

Cancer as a Ciliopathy: The Primary Cilium as a New Therapeutic Target [PDF]

, 2015
Javier S. Castresana
openalex   +1 more source

Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis [PDF]

, 2014
Shobi Veleri, Souparnika H. Manjunath, Robert N. Fariss, Helen May‐Simera, Matthew Brooks, Trevor A. Foskett, Chun Gao, Teresa A. Longo, Pinghu Liu, Kunio Nagashima, Rivka A. Rachel, Tiansen Li, Lijin Dong, Anand Swaroop   +13 more
openalex   +1 more source

Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor [PDF]

, 2021
Eleni Leventea, Zhou Zhu, Xiaoming Fang, Yulia S. Nikolaeva, Eleanor Markham, Robert A. Hirst, Fredericus J. M. van Eeden, Jarema Malicki   +7 more
openalex   +1 more source

Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290 [PDF]

, 2021
Valencia L. Potter, Abigail R. Moye, Michael A. Robichaux, Theodore G. Wensel   +3 more
openalex   +1 more source

MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity [PDF]

, 2019
Tana S. Pottorf, Micaella P. Fagan, Bryan F. Burkey, David Cho, James E. Vath, Pamela V. Tran   +5 more
openalex   +1 more source

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies [PDF]

, 2012
Katarzyna Szymańska, Ian Berry, Clare V. Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A. Johnson   +12 more
openalex   +1 more source

A new role of the late endosome in ciliary transport as a therapeutic target in the pathogenesis of ciliopathies

, 2022
Otsu Wataru
openalex   +2 more sources

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]

, 2018
We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique, Birraux, Jacques, Bottani, Armand, Calinescu-Tuleasca, Ana-Maria, Girardin, Eric, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Rougemont, Anne-Laure, Wildhaber, Barbara   +10 more
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