Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle mai...

Por Agrawal, Pankaj B., Joshi, Mugdha, Savic, Talia, Chen, Zoe, Beggs, Alan H.
Publicado em 2012

Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration

Por Morton, Sarah U., Joshi, Mugdha, Savic, Talia, Beggs, Alan H., Agrawal, Pankaj B.
Publicado no PLoS One (2015)

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype

Por Rosen, Samantha M, Joshi, Mugdha, Hitt, Talia, Beggs, Alan H, Agrawal, Pankaj B
Publicado no Hum Mol Genet (2020)

The role of PhD faculty in advancing research in departments of surgery

Por Bell, Teresa M., Valsangkar, Nakul, Joshi, Mugdha, Mayo, John, Blanton, Casi, Zimmers, Teresa A., Torbeck, Laura, Koniaris, Leonidas G.
Publicado no Ann Surg (2017)

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice

Por Kazerounian, Shideh, Ciarlini, Pedro D.S.C., Yuan, Daniel, Ghazvinian, Roxanne, Alberich-Jorda, Meritxell, Joshi, Mugdha, Zhang, Hong, Beggs, Alan H., Gazda, Hanna T.
Publicado no J Cancer (2016)

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara Syndrome and unique neuropathological findings

Por Touma, Marlin, Joshi, Mugdha, Connolly, Meghan C., Grant, P. Ellen, Hansen, Anne R., Khwaja, Omar, Berry, Gerard T., Kinney, Hannah C., Poduri, Annapurna, Agrawal, Pankaj B.
Publicado em 2013

Determining the Drivers of Academic Success in Surgery: An Analysis of 3,850 Faculty

Por Valsangkar, Nakul P., Zimmers, Teresa A., Kim, Bradford J., Blanton, Casi, Joshi, Mugdha M., Bell, Teresa M., Nakeeb, Attila, Dunnington, Gary L., Koniaris, Leonidas G.
Publicado no PLoS One (2015)

Expanding the Phenotype Associated With the NEFL Mutation Neuromuscular Disease in a Family with Overlapping Myopathic and Neurogenic Findings

Por Agrawal, Pankaj B., Joshi, Mugdha, Marinakis, Nicholas S., Schmitz-Abe, Klaus, Ciarlini, Pedro D. S. C., Sargent, Jane C., Markianos, Kyriacos, De Girolami, Umberto, Chad, David A., Beggs, Alan H.
Publicado no JAMA Neurol (2014)

Cofilin-2 Phosphorylation and Sequestration In Myocardial Aggregates: Novel Pathogenetic Mechanisms For Idiopathic Dilated Cardiomyopathy

Por Subramanian, Khaushik, Gianni, Davide, Balla, Cristina, Assenza, Gabriele Egidy, Joshi, Mugdha, Semigran, Marc J., Macgillivray, Thomas E., Van Eyk, Jennifer E., Agnetti, Giulio, Paolocci, Nazareno, Bamburg, James R., Agrawal, Pankaj B., del Monte, Federica
Publicado no J Am Coll Cardiol (2015)

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

Por Joshi, Mugdha, Anselm, Irina, Shi, Jiahai, Bale, Tejus A., Towne, Meghan, Schmitz-Abe, Klaus, Crowley, Laura, Giani, Felix C., Kazerounian, Shideh, Markianos, Kyriacos, Lidov, Hart G., Folkerth, Rebecca, Sankaran, Vijay G., Agrawal, Pankaj B.
Publicado no Cold Spring Harb Mol Case Stud (2016)

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

Por Joshi, Mugdha, Eagan, Jacqueline, Desai, Nirav K, Newton, Stephanie A, Towne, Meghan C, Marinakis, Nicholas S, Esteves, Kristyn M, De Ferranti, Sarah, Bennett, Michael J, McIntyre, Adam, Beggs, Alan H, Berry, Gerard T, Agrawal, Pankaj B
Publicado em 2014

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

Por Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.
Publicado em 2014