CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy

por Arockiaraj, Annie I., Johnson, Marie A., Munir, Anushe, Ekambaram, Prasanna, Lucas, Peter C., McAllister-Lucas, Linda M., Kemaladewi, Dwi U.
Publicado 2023

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome

por Akinyele, Oluwaseun, Munir, Anushe, Johnson, Marie A., Perez, Megan S., Gao, Yuan, Foley, Jackson R., Wu, Yijen, Murray-Stewart, Tracy, Casero, Robert A., Bayir, Hulya, Kemaladewi, Dwi U.
Publicado 2023

Antisense-Oligonucleotide Mediated Exon Skipping in Activin-Receptor-Like Kinase 2: Inhibiting the Receptor That Is Overactive in Fibrodysplasia Ossificans Progressiva

por Shi, SongTing, Cai, Jie, de Gorter, David J. J., Sanchez-Duffhues, Gonzalo, Kemaladewi, Dwi U., Hoogaars, Willem M. H., Aartsma-Rus, Annemieke, ’t Hoen, Peter A. C., ten Dijke, Peter
Publicado 2013

Targeting TGF-β Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-β Type I Receptor

por Kemaladewi, Dwi U, Pasteuning, Svitlana, van der Meulen, Joke W, van Heiningen, Sandra H, van Ommen, Gert-Jan, ten Dijke, Peter, Aartsma-Rus, Annemieke, ‘t Hoen, Peter AC, Hoogaars, Willem M
Publicado 2014

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy

por Kemaladewi, Dwi U, Hoogaars, Willem MH, van Heiningen, Sandra H, Terlouw, Samuel, de Gorter, David JJ, den Dunnen, Johan T, van Ommen, Gert Jan B, Aartsma-Rus, Annemieke, ten Dijke, Peter, 't Hoen, Peter AC
Publicado 2011

Novel Ex Vivo Culture Method for the Study of Dupuytren's Disease: Effects of TGFβ Type 1 Receptor Modulation by Antisense Oligonucleotides

por Karkampouna, Sofia, Kruithof, Boudewijn PT, Kloen, Peter, Obdeijn, Miryam C, van der Laan, Annelies MA, Tanke, Hans J, Kemaladewi, Dwi U, Hoogaars, Willem MH, ‘t Hoen, Peter AC, Aartsma-Rus, Annemieke, Clark, Ian M, ten Dijke, Peter, Goumans, Marie-José, Kruithof-de Julio, Marianna
Publicado 2014

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

por Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.
Publicado 2019