Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
JP Habashi, DP Judge, TM Holm, RD Cohn, BL Loeys… - Science, 2006 - science.org
Aortic aneurysm and dissection are manifestations of Marfan syndrome (MFS), a disorder
caused by mutations in the gene that encodes fibrillin-1. Selected manifestations of MFS reflect …
caused by mutations in the gene that encodes fibrillin-1. Selected manifestations of MFS reflect …
Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
Muscle–eye–brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD)
are congenital muscular dystrophies with associated, similar brain malformations 1 , 2 . The …
are congenital muscular dystrophies with associated, similar brain malformations 1 , 2 . The …
Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states
RD Cohn, C Van Erp, JP Habashi, AA Soleimani… - Nature medicine, 2007 - nature.com
Skeletal muscle has the ability to achieve rapid repair in response to injury or disease 1 . Many
individuals with Marfan syndrome (MFS), caused by a deficiency of extracellular fibrillin-1…
individuals with Marfan syndrome (MFS), caused by a deficiency of extracellular fibrillin-1…
[HTML][HTML] Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
…, PN Ray, S Bowdin, MS Meyn, RD Cohn… - Genetics in …, 2018 - nature.com
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
Fukuyama congenital muscular dystrophy (FCMD), muscle–eye–brain disease (MEB), and
Walker–Warburg syndrome are congenital muscular dystrophies (CMDs) with associated …
Walker–Warburg syndrome are congenital muscular dystrophies (CMDs) with associated …
Molecular basis of muscular dystrophies
RD Cohn, KP Campbell - Muscle & nerve, 2000 - Wiley Online Library
Muscular dystrophies represent a heterogeneous group of disorders, which have been largely
classified by clinical phenotype. In the last 10 years, identification of novel skeletal muscle …
classified by clinical phenotype. In the last 10 years, identification of novel skeletal muscle …
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice
…, ME Lindsay, D Kim, F Schoenhoff, RD Cohn… - Science, 2011 - science.org
Transforming growth factor–β (TGFβ) signaling drives aneurysm progression in multiple
disorders, including Marfan syndrome (MFS), and therapies that inhibit this signaling cascade …
disorders, including Marfan syndrome (MFS), and therapies that inhibit this signaling cascade …
[HTML][HTML] Disruption of the sarcoglycan–sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy
R Coral-Vazquez, RD Cohn, SA Moore, JA Hill… - Cell, 1999 - cell.com
To investigate mechanisms in the pathogenesis of cardiomyopathy associated with
mutations of the dystrophin–glycoprotein complex, we analyzed genetically engineered mice …
mutations of the dystrophin–glycoprotein complex, we analyzed genetically engineered mice …
[HTML][HTML] Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
…, PN Ray, MS Meyn, SW Scherer, RD Cohn… - NPJ genomic …, 2016 - nature.com
The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…
[HTML][HTML] Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration
Striated muscle-specific disruption of the dystroglycan (DAG1) gene results in loss of the
dystrophin-glycoprotein complex in differentiated muscle and a remarkably mild muscular …
dystrophin-glycoprotein complex in differentiated muscle and a remarkably mild muscular …