Results 181 to 190 of about 11,932 (230)

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies. [PDF]

HGG Adv
Rushforth R, Reynolds K, Estes SI, Nolan DK, Mori M, Koboldt DC, Hunter JM, Stottmann RW.   +7 more
europepmc   +1 more source

Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation. [PDF]

Cureus
Babiker AI, Alkabbani H, AlMaraghi S, Al Sulaiti N, Abbas O, Al Serhan AAA, Al-Kadasi W, Yousef M, Mohamed K.   +8 more
europepmc   +1 more source

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome. [PDF]

Diagnostics (Basel)
Wójcik-Niklewska B, Oliwa Z, Zdort Z, Smędowski A.   +3 more
europepmc   +1 more source

Disrupting mitochondrial β-oxidation by depletion of HADHA impairs primary ciliogenesis. [PDF]

Sci Rep
Kim JB, Kim YH, Kim SH, Hyung H, So JH, Park D, Park NY, Choi DK, Bae JE, Cho DH.   +9 more
europepmc   +1 more source

Network-based framework for studying etiology and phenotype diversity in primary ciliopathies

Aarts E, Laman Trip D, Neatu R, Martin C, Riley B, Kraus A, Green A, Al-Hamed M, Armstrong R, Sayer J, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.

Kidney Blood Press Res
Secondulfo F, Del Vecchio Blanco F, Capolongo G, Piluso G, Nigro V, Perna AF, Capasso G, Zacchia M.   +7 more
europepmc   +1 more source

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Renal ciliopathies

Current Opinion in Genetics & Development, 2019
Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes.
Laura A, Devlin, John A, Sayer
openaire   +2 more sources

The Retinal Ciliopathies

Ophthalmic Genetics, 2007
While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes.
N A, Adams, Ahmed, Awadein, Hassanain S, Toma   +2 more
openaire   +2 more sources

Ciliopathy: Usher Syndrome

2018
Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems.
Stephen H, Tsang, Alicia R P, Aycinena, Tarun, Sharma   +2 more
openaire   +2 more sources