Search Results - "COHN, Ronald D"

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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Clinically relevant copy number variations detected in cerebral palsy by Oskoui, Maryam, Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Andersen, John, Wei, John, Wang, Zhuozhi, Wintle, Richard F., Marshall, Christian R., Cohn, Ronald D., Weksberg, Rosanna, Stavropoulos, Dimitri J., Fehlings, Darcy, Shevell, Michael I., Scherer, Stephen W.

“…Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset,…”
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Regulation of Muscle Mass by Follistatin and Activins by Lee, Se-Jin, Lee, Yun-Sil, Zimmers, Teresa A, Soleimani, Arshia, Matzuk, Martin M, Tsuchida, Kunihiro, Cohn, Ronald D, Barton, Elisabeth R

“…Myostatin is a TGF-β family member that normally acts to limit skeletal muscle mass. Follistatin is a myostatin-binding protein that can inhibit myostatin…”
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Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L by Yoon, Grace, MD, Malam, Zeenat, PhD, Paton, Tara, PhD, Marshall, Christian R., PhD, Hyatt, Ella, BSc, Ivakine, Zhenya, PhD, Scherer, Stephen W., PhD, Lee, Kyong-Soon, MD, Hawkins, Cynthia, MD, PhD, Cohn, Ronald D., MD

“…We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of…”
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Identification and characterization of a functional mitochondrial angiotensin system by Abadir, Peter M, Foster, D. Brian, Crow, Michael, Cooke, Carol A, Rucker, Jasma J, Jain, Alka, Smith, Barbara J, Burks, Tyesha N, Cohn, Ronald D, Fedarko, Neal S, Carey, Robert M, O’Rourke, Brian, Walston, Jeremy D

“…The renin-angiotensin (Ang) system regulates multiple physiological functions through Ang II type 1 and type 2 receptors. Prior studies suggest an…”
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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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The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice by Scott, Ori, Visuvanathan, Shagana, Reddy, Emily, Mahamed, Deeqa, Gu, Bin, Roifman, Chaim M, Cohn, Ronald D, Guidos, Cynthia J, Ivakine, Evgueni A

“…Humans with gain-of-function (GOF) mutations in STAT1 (Signal Transducer and Activator of Transcription 1), a potent immune regulator, experience frequent…”
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Role of TGF-β signaling in inherited and acquired myopathies by Burks, Tyesha N, Cohn, Ronald D

“…The transforming growth factor-beta (TGF-β) superfamily consists of a variety of cytokines expressed in many different cell types including skeletal muscle…”
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Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II by Al Teneiji, Amal, Bruun, Theodora U.J., Sidky, Sarah, Cordeiro, Dawn, Cohn, Ronald D, Mendoza-Londono, Roberto, Moharir, Mahendranath, Raiman, Julian, Siriwardena, Komudi, Kyriakopoulou, Lianna, Mercimek-Mahmutoglu, Saadet

“…Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is…”
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Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome by Habashi, Jennifer P, Judge, Daniel P, Holm, Tammy M, Cohn, Ronald D, Loeys, Bart L, Cooper, Timothy K, Myers, Loretha, Klein, Erin C, Liu, Guosheng, Calvi, Carla, Podowski, Megan, Neptune, Enid R, Halushka, Marc K, Bedja, Djahida, Gabrielson, Kathleen, Rifkin, Daniel B, Carta, Luca, Ramirez, Francesco, Huso, David L, Dietz, Harry C

“…Aortic aneurysm and dissection are manifestations of Marfan syndrome (MFS), a disorder caused by mutations in the gene that encodes fibrillin-1. Selected…”
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Anti-CRISPR AcrIIA5 Potently Inhibits All Cas9 Homologs Used for Genome Editing by Garcia, Bianca, Lee, Jooyoung, Edraki, Alireza, Hidalgo-Reyes, Yurima, Erwood, Steven, Mir, Aamir, Trost, Chantel N., Seroussi, Uri, Stanley, Sabrina Y., Cohn, Ronald D., Claycomb, Julie M., Sontheimer, Erik J., Maxwell, Karen L., Davidson, Alan R.

“…CRISPR-Cas9 systems provide powerful tools for genome editing. However, optimal employment of this technology will require control of Cas9 activity so that the…”
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Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with an IRAK1-MECP2 duplication by Rizvi, Samar Z., Chan, Wing Suen, Maino, Eleonora, Steiman, Sydney, Forguson, Georgiana, Klepfish, Maya, Cohn, Ronald D., Ivakine, Evgueni A.

“…Recent progress in genome editing technologies has catalyzed the generation of sophisticated cell models; however, the precise modeling of copy-number…”
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Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression by Maino, Eleonora, Wojtal, Daria, Evagelou, Sonia L, Farheen, Aiman, Wong, Tatianna W Y, Lindsay, Kyle, Scott, Ori, Rizvi, Samar Z, Hyatt, Elzbieta, Rok, Matthew, Visuvanathan, Shagana, Chiodo, Amanda, Schneeweiss, Michelle, Ivakine, Evgueni A, Cohn, Ronald D

“…Tandem duplication mutations are increasingly found to be the direct cause of many rare heritable diseases, accounting for up to 10% of cases. Unfortunately,…”
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Editorial: Current Insights Into LAMA2 Disease by Previtali, Stefano C., Cohn, Ronald D., Ruegg, Markus A.

“…The disease has an estimated prevalence in UK and Italy of 0.6–0.7/100,000, and is characterized by a severe wasting muscular dystrophy, dysmyelinating…”
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Maintaining skeletal muscle mass: lessons learned from hibernation by Ivakine, Evgueni A., Cohn, Ronald D.

“…New Findings What is the topic of this review? This report describes identification and characterization of serum‐ and glucocorticoid‐regulated kinase 1 (SGK1)…”
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An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome by Maino, Eleonora, Scott, Ori, Rizvi, Samar Z., Chan, Wing Suen, Visuvanathan, Shagana, Zablah, Youssif Ben, Li, Hongbin, Sengar, Ameet S., Salter, Michael W., Jia, Zhengping, Rossant, Janet, Cohn, Ronald D., Gu, Bin, Ivakine, Evgueni A.

“…MECP2 duplication syndrome (MDS) is a neurodevelopmental disorder caused by tandem duplication of the MECP2 locus and its surrounding genes, including IRAK1…”
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A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy by Wong, Tatianna Wai Ying, Ahmed, Abdalla, Yang, Grace, Maino, Eleonora, Steiman, Sydney, Hyatt, Elzbieta, Chan, Parry, Lindsay, Kyle, Wong, Nicole, Golebiowski, Diane, Schneider, Joel, Delgado-Olguín, Paul, Ivakine, Evgueni A, Cohn, Ronald D

“…Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and…”
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Hibernating squirrel muscle activates the endurance exercise pathway despite prolonged immobilization by Xu, Ran, Andres-Mateos, Eva, Mejias, Rebeca, MacDonald, Elizabeth M., Leinwand, Leslie A., Merriman, Dana K., Fink, Rainer H.A., Cohn, Ronald D.

“…Skeletal muscle atrophy is a very common clinical challenge in many disuse conditions. Maintenance of muscle mass is crucial to combat debilitating functional…”
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