Showing results (41-50 of 92) with videos related to

Sort By:
Pageof 10
Human Molecular Genetics|November 1, 2016
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia networkIga Abramowicz, Gillian Carpenter, Mariaevelina Alfieri, et al.
Developmental Biology|October 6, 2010
Ofd1 is required in limb bud patterning and endochondral bone developmentSabrina Bimonte, Amalia De Angelis, Luca Quagliata, et al.
American Journal of Human Genetics|October 13, 2006
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella Wimplinger, Manuela Morleo, Georg Rosenberger, et al.
Autophagy|May 25, 2022
Crosstalk between cilia and autophagy: implication for human diseasesManuela Morleo, Helena L A Vieira, Petra Pennekamp, et al.
Cells|March 11, 2023
The NAMPT Inhibitor FK866 in Combination with Cisplatin Reduces Cholangiocarcinoma Cells GrowthKishor Pant, Seth Richard, Estanislao Peixoto, et al.
American Journal of Medical Genetics. Part A|March 7, 2020
Expansion of the phenotype of lateral meningocele syndromeGerarda Cappuccio, Diletta Apuzzo, Marianna Alagia, et al.
EMBO Molecular Medicine|December 15, 2012
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyesAlessia Indrieri, Ivan Conte, Giancarlo Chesi, et al.
Scientific Reports|June 17, 2020
α-synuclein overexpression in the retina leads to vision impairment and degeneration of dopaminergic amacrine cellsElena Marrocco, Alessia Indrieri, Federica Esposito, et al.
Orphanet Journal of Rare Diseases|April 15, 2021
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variantClaudia Mandato, Maria Anna Siano, Lucia Nazzaro, et al.
Pageof 10