Search Results - Adam Ronchetti
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Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin
Published 2013Artigo
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Biology
Gene
Genetics
Apoptosis
Autophagosome
Autophagy
Cataracts
Cell biology
G protein
GTPase
GTPase-activating protein
Haploinsufficiency
Infertility
Locus (genetics)
Loss function
Male infertility
Molecular biology
Mutation
Phenocopy
Phenotype
Pregnancy
Rab
Regulator
Signal transduction
Small GTPase