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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 30, 2022
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndromeGerarda Cappuccio, Simona Brillante, Roberta Tammaro, et al.
EMBO Molecular Medicine|April 14, 2019
miR-181a/b downregulation exerts a protective action on mitochondrial disease modelsAlessia Indrieri, Sabrina Carrella, Alessia Romano, et al.
Human Mutation|November 22, 2008
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencingChristel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, et al.
The EMBO Journal|May 2, 2021
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylationEmanuela Senatore, Francesco Chiuso, Laura Rinaldi, et al.
BMC Biology|March 30, 2013
The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signalingRoman H Khonsari, Maisa Seppala, Alan Pradel, et al.
European Journal of Medical Genetics|March 26, 2013
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndromeVéronique Darmency-Stamboul, Lydie Burglen, Estelle Lopez, et al.
International Journal of Molecular Sciences|June 24, 2022
Generation and Characterization of a Tumor Stromal Microenvironment and Analysis of Its Interplay with Breast Cancer Cells: An In Vitro Model to Study Breast Cancer-Associated Fibroblast InactivationVeronica Romano, Maria Rosaria Ruocco, Pietro Carotenuto, et al.
Human Molecular Genetics|December 9, 2015
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndromeVéronique Chevrier, Ange-Line Bruel, Teunis J P Van Dam, et al.
Cell Reports|November 9, 2022
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanomaPietro Carotenuto, Alessia Romano, Anna Barbato, et al.
Elife|October 11, 2024
Cell-cell interaction determines cell fate of mesoderm-derived cell in tongue development through Hh signalingMaiko Kawasaki, Katsushige Kawasaki, Finsa Tisna Sari, et al.
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