Results 201 to 210 of about 12,876 (273)

Physical and functional interaction of the ciliopathy proteins Lrrc56 and Odad3 control deployment of axonemal dyneins in vertebrate multiciliated cells.

Dis Model Mech
Reyes-Nava NG, Lee C, Papoulas O, Hong J, Marcotte EM, Wallingford JB.   +5 more
europepmc   +1 more source

Primary ciliary dyskinesia phenotypes and correlation with genotype. [PDF]

Curr Opin Pulm Med
Horani A, Wee W, Omran H, Ferkol T.
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

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

Nephronophthisis-associated ciliopathy within Sensenbrenner's syndrome: clinical report and literature review

Svetlana Papizh, A.V. Topchiy, Т. В. Маркова, Tatyana Nagornova   +3 more
openalex   +2 more sources

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

Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy. [PDF]

Pediatr Radiol
Sarma A, A Knake L, Hernanz-Schulman M, Cassini T, Pruthi S.   +4 more
europepmc   +1 more source

First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review. [PDF]

Mol Syndromol
Güleç A, Gerik-Celebi HB.
europepmc   +1 more source

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

, 2016
Michinori Toriyama, Chanjae Lee, S. Paige Taylor, Iván Durán, Daniel H. Cohn, Ange‐Line Bruel, Jacqueline M. Tabler, Kevin Drew, Marcus R. Kelly, Sukyoung Kim, Tae Joo Park, Daniela A. Braun, Ghislaine Pierquin, Armand Biver, Kerstin Wagner, Anne Malfroot, Inusha Panigrahi, Brunella Franco, Hadeel Adel Al-Lami, Yvonne Yeung, Yeon Ja Choi, Yannis Duffourd, Laurence Faivre, Jean‐Baptiste Rivière, Jiang Chen, Karen Liu, Edward M. Marcotte, Friedhelm Hildebrandt, Christel Thauvin‐Robinet, Deborah Krakow, Peter K. Jackson, John B. Wallingford   +31 more
openalex   +2 more sources