Results 201 to 210 of about 11,057 (243)

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies. [PDF]

Kidney Int Rep
Dahmer-Heath M, Gerß J, Fliser D, Liebau MC, Speer T, Telgmann AK, Burgmaier K, Pennekamp P, Pape L, Schaefer F, Konrad M, König JC, NEOCYST Consortium.   +12 more
europepmc   +1 more source

Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration. [PDF]

Doc Ophthalmol
Pincay J, da Costa BL, Quinn PMJ, Rodriguez M, Zhou A, Kong MD, Sparrow JR, Tsang SH.   +7 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

Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles. [PDF]

Med Pharm Rep
Pîrlog LM, Pătrăşcanu AA, Kutasi E, Iordănescu I, Militaru MS.   +4 more
europepmc   +1 more source

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort. [PDF]

Kidney Int Rep
Lemberg K, Shalaby MA, Zion E, Saida K, Yousef K, Schneider R, Mertens ND, Mansour B, Kolvenbach CM, Merz LM, Riedhammer KM, Braun A, Hölzel S, Yu S, Lomjansook K, Kalkar G, Marchuk D, Elmubarak I, Franken GAC, Shril S, El Desoky S, Kari JA, Buerger F, Hildebrandt F.   +23 more
europepmc   +1 more source

Motile ciliopathies

Nature Reviews Disease Primers, 2020
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Julia Wallmeier, Kim G Nielsen, Claudia E. Kuehni   +2 more
exaly   +9 more sources