Functional Analysis of HSF4 Mutations Found in Patients With Autosomal Recessive Congenital Cataracts

Por Merath, Kate, Ronchetti, Adam, Sidjanin, Duska J.
Publicado em 2013

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome

Por Liegel, Ryan P., Ronchetti, Adam, Sidjanin, D.J.
Publicado em 2014

A Disintegrin and Metalloproteinase10 (ADAM10) Regulates NOTCH Signaling during Early Retinal Development

Por Toonen, Joseph A., Ronchetti, Adam, Sidjanin, D. J.
Publicado no PLoS One (2016)

TBC1D20 mediates autophagy as a key regulator of autophagosome maturation

Por Sidjanin, D. J., Park, Anna K., Ronchetti, Adam, Martins, Jamaria, Jackson, William T.
Publicado no Autophagy (2016)

Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice

Por Liang, Lina, Liegel, Ryan, Endres, Brad, Ronchetti, Adam, Chang, Bo, Sidjanin, D.J.
Publicado em 2011

ADAM17 Transactivates EGFR Signaling during Embryonic Eyelid Closure

Por Hassemer, Eryn L., Endres, Bradley, Toonen, Joseph A., Ronchetti, Adam, Dubielzig, Richard, Sidjanin, Duska J.
Publicado em 2013

Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice

Por Park, Anna Kyunglim, Liegel, Ryan P, Ronchetti, Adam, Ebert, Allison D, Geurts, Aron, Sidjanin, Duska J
Publicado no BMC Genet (2014)

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Por Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.
Publicado em 2013