Results 201 to 210 of about 12,198 (227)

CSPP1 preserves quiescent microtubule functions by dual-end capping. [PDF]

J Mol Cell Biol
Mapelli M.
europepmc   +1 more source

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis. [PDF]

Pediatr Nephrol
Hellmann C, Wohlgemuth K, Pennekamp P, George S, Dahmer-Heath M, Konrad M, Omran H, König J, NEOCYST Consortium.   +8 more
europepmc   +1 more source

Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman. [PDF]

J Med Cases
Matsuo T, Onishi Y, Morinaga H, Wada J, Tanaka T, Araki M.   +5 more
europepmc   +1 more source

Functional characterization of the ANKS3 protein involved in renal ciliopathies and study of its role in the RNAs regulation

, 2018
Gweltas Odye
openalex   +1 more source

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies. [PDF]

BMC Med Inform Decis Mak
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A.   +13 more
europepmc   +1 more source

RAB23loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome

Leong W, Tung W, Chui W, Wilkie AOM, Hor C.   +4 more
europepmc   +1 more source

A prioritization tool for cilia-associated genes and their in vivo resources unveils new avenues for ciliopathy research.

Dis Model Mech
Van Sciver RE, Caspary T.
europepmc   +1 more source