Search Results - "Kemaladewi, Dwi U."

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

“…Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at…”
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A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene by Kemaladewi, Dwi U., Bassi, Prabhpreet S., Erwood, Steven, Al-Basha, Dhekra, Gawlik, Kinga I., Lindsay, Kyle, Hyatt, Elzbieta, Kember, Rebekah, Place, Kara M., Marks, Ryan M., Durbeej, Madeleine, Prescott, Steven A., Ivakine, Evgueni A., Cohn, Ronald D.

“…Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally complex genes. Targeting compensatory modifier genes could be…”
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Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders by Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Wong, Tatianna W.Y., Hyatt, Elzbieta, Baghestani, Zahra, Pereira, Sergio, Stavropoulos, James, Mouly, Vincent, Mamchaoui, Kamel, Muntoni, Francesco, Voit, Thomas, Gonorazky, Hernan D., Dowling, James J., Wilson, Michael D., Mendoza-Londono, Roberto, Ivakine, Evgueni A., Cohn, Ronald D.

“…Clustered regularly interspaced short palindromic repeat (CRISPR) has arisen as a frontrunner for efficient genome engineering. However, the potentially broad…”
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Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism by Kemaladewi, Dwi U, Maino, Eleonora, Hyatt, Elzbieta, Hou, Huayun, Ding, Maylynn, Place, Kara M, Zhu, Xinyi, Bassi, Prabhpreet, Baghestani, Zahra, Deshwar, Amit G, Merico, Daniele, Xiong, Hui Y, Frey, Brendan J, Wilson, Michael D, Ivakine, Evgueni A, Cohn, Ronald D

“…An HDR-independent therapeutic genome-editing approach corrected the splice-site mutation in Lama2 in a mouse model of congenital muscular dystrophy type 1A,…”
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Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson Syndrome by Akinyele, Oluwaseun, Munir, Anushe, Johnson, Marie A, Perez, Megan S, Gao, Yuan, Foley, Jackson R, Nwafor, Ashley, Wu, Yijen, Murray-Stewart, Tracy, Casero, Robert A, Bayir, Hulya, Kemaladewi, Dwi U

“…Snyder-Robinson Syndrome (SRS) is a rare X-linked recessive disorder caused by a mutation in the SMS gene encoding spermine synthase and aberrant polyamine…”
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Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva by 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

“…Fibrodysplasia ossificans progressiva (FOP) is a rare heritable disease characterized by progressive heterotopic ossification of connective tissues, for which…”
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BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model by Shi, SongTing, Hoogaars, Willem M.H, de Gorter, David J.J, van Heiningen, Sandra H, Lin, Herbert Y, Hong, Charles C, Kemaladewi, Dwi U, Aartsma-Rus, Annemieke, ten Dijke, Peter, t Hoen, Peter A.C

“…Abstract Duchenne Muscular Dystrophy (DMD) is an X-linked lethal muscle wasting disease characterized by muscle fiber degeneration and necrosis. The…”
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Targeting TGF-β Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-β Type I Receptor by 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

“…Duchenne muscular dystrophy (DMD) is caused by lack of functional dystrophin and results in progressive myofiber damage and degeneration. In addition, impaired…”
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Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy by Kemaladewi, Dwi U, Hoogaars, Willem M H, van Heiningen, Sandra H, Terlouw, Samuel, de Gorter, David J J, den Dunnen, Johan T, van Ommen, Gert Jan B, Aartsma-Rus, Annemieke, ten Dijke, Peter, 't Hoen, Peter A C

“…Myostatin is a potent muscle growth inhibitor that belongs to the Transforming Growth Factor-β (TGF-β) family. Mutations leading to non functional myostatin…”
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Novel Ex Vivo Culture Method for the Study of Dupuytren's Disease: Effects of TGFβ Type 1 Receptor Modulation by Antisense Oligonucleotides by 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

“…Dupuytren's disease (DD) is a benign fibroproliferative disease of the hand. It is characterized by the excessive production of extracellular matrix (ECM)…”
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Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease by 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.

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Exon Snipping in Duchenne Muscular Dystrophy by Kemaladewi, Dwi U, Cohn, Ronald D

“…Duchenne muscular dystrophy (DMD) is a life-limiting neuromuscular disorder caused by mutations in the DMD gene encoding dystrophin. We discuss very recent…”
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Cell‐type specific regulation of myostatin signaling by Kemaladewi, Dwi U., Gorter, David J. J., Aartsma‐Rus, Annemieke, Ommen, Gert‐Jan, Dijke, Peter ten, Hoen, Peter A. C. 't, Hoogaars, Willem M.

“…The transforming growth factor (TGF)‐β family member myostatin is an important regulator of myoblast, adipocyte, and fibroblast growth and differentiation, but…”
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Early-career researchers in the time of COVID-19: Benefits of structural support

“…COVID-19 shutdowns have had detrimental impacts on new labs, but thoughtful support from institutions and funding bodies may alleviate key pressures and…”
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Introductions to the Community: Early-Career Researchers in the Time of COVID-19

“…COVID-19 has unfortunately halted lab work, conferences, and in-person networking, which is especially detrimental to researchers just starting their labs…”
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559. Spell Checking Nature: A Therapeutic Use of the CRISPR/Cas9 System in Duchenne Muscular Dystrophy by Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Hyatt, Elzbieta, Huang, Victoria, Mouly, Vincent, Voit, Thomas, Muntoni, Francesco, Ivakine, Evgueni A., Cohn, Ronald D.

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Antisense-Oligonucleotide Mediated Exon Skipping in Activin-Receptor-Like Kinase 2: Inhibiting the Receptor That Is Overactive in Fibrodysplasia Ossificans Progressiva. e69096 by Shi, SongTing, Cai, Jie, Gorter, J Jde, Sanchez-Duffhues, Gonzalo, Kemaladewi, Dwi U, Hoogaars, Willem MH, Aartsma-Rus, Annemieke, Hoen, A C't, Dijke, Peter ten

“…Fibrodysplasia ossificans progressiva (FOP) is a rare heritable disease characterized by progressive heterotopic ossification of connective tissues, for which…”
Get full text

Targeting TGF-[beta] Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-[beta] Type I Receptor by 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

“…Duchenne muscular dystrophy (DMD) is caused by lack of functional dystrophin and results in progressive myofiber damage and degeneration. In addition, impaired…”
Get full text

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

“…Dupuytren's disease (DD) is a benign fibroproliferative disease of the hand. It is characterized by the excessive production of extracellular matrix (ECM)…”
Get full text