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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. , Bocquet B., JCI Insight. November 8, 2023; 8 (21):
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. , Deniz E ., Dev Biol. July 1, 2023; 499 75-88.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. , Mishra-Gorur K., Proc Natl Acad Sci U S A. April 18, 2023; 120 (16): e2214997120.
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex. , Mascibroda LG., Nat Commun. October 13, 2022; 13 (1): 6054.
GJA1 depletion causes ciliary defects by affecting Rab11 trafficking to the ciliary base. , Jang DG., Elife. August 25, 2022; 11
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. , Marquez J ., J Med Genet. July 1, 2021; 58 (7): 453-464.
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. , Robson A., Proc Natl Acad Sci U S A. July 9, 2019; 116 (28): 14049-14054.
Characterization of potential TRPP2 regulating proteins in early Xenopus embryos. , Futel M., J Cell Biochem. December 1, 2018; 119 (12): 10338-10350.
WDR5 regulates left- right patterning via chromatin-dependent and -independent functions. , Kulkarni SS ., Development. November 28, 2018; 145 (23):
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development. , Konjikusic MJ., PLoS Genet. November 6, 2018; 14 (11): e1007817.
Roles of the cilium-associated gene CCDC11 in left- right patterning and in laterality disorders in humans. , Gur M., Int J Dev Biol. January 1, 2017; 61 (3-4-5): 267-276.
La-related protein 6 controls ciliated cell differentiation. , Manojlovic Z., Cilia. January 1, 2017; 6 4.
Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia. , Del Viso F., Dev Cell. September 12, 2016; 38 (5): 478-92.
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy. , Duncan AR., Semin Cell Dev Biol. March 1, 2016; 51 73-9.
TRPP2-dependent Ca2+ signaling in dorso- lateral mesoderm is required for kidney field establishment in Xenopus. , Futel M., J Cell Sci. March 1, 2015; 128 (5): 888-99.
The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin. , Epting D., Development. January 1, 2015; 142 (1): 174-84.
RFX7 is required for the formation of cilia in the neural tube. , Manojlovic Z., Mech Dev. May 1, 2014; 132 28-37.
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. , Boskovski MT., Nature. December 19, 2013; 504 (7480): 456-9.
Left- right asymmetry: lessons from Cancún. , Burdine RD., Development. November 1, 2013; 140 (22): 4465-70.
RFX2 is broadly required for ciliogenesis during vertebrate development. , Chung MI ., Dev Biol. March 1, 2012; 363 (1): 155-65.