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Human Mutation|June 12, 2008
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patientsClelia Prattichizzo, Marina Macca, Valeria Novelli, et al.International Journal of Molecular Sciences|April 5, 2020
Role of uL3 in the Crosstalk between Nucleolar Stress and Autophagy in Colon Cancer CellsAnnalisa Pecoraro, Pietro Carotenuto, Brunella Franco, et al.Journal of Molecular Biology|March 23, 2015
Metabolic regulation of the ultradian oscillator Hes1 by reactive oxygen speciesSimona Ventre, Alessia Indrieri, Chiara Fracassi, et al.Genomics|June 5, 2003
Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutantMaria I Ferrante, Adriano Barra, Jean-Pierre Truong, et al.Molecular Medicine Reports|April 12, 2011
Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndromeManuela Morleo, Daniela Iaconis, David Chitayat, et al.Nature Genetics|November 29, 2005
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specificationMaria Immacolata Ferrante, Alessandro Zullo, Adriano Barra, et al.American Journal of Medical Genetics|November 20, 2002
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?Giovanni Battista Ferrero, Mariella Valenzise, Brunella Franco, et al.Nature|October 4, 2013
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellitesZaiming Tang, Mary Grace Lin, Timothy Richard Stowe, et al.Human Molecular Genetics|May 7, 2010
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathwayAlessandro Zullo, Daniela Iaconis, Adriano Barra, et al.Human Molecular Genetics|November 3, 2018
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signalingFilomena Massa, Roberta Tammaro, Miguel A Prado, et al.Pageof 13