Belinda S Cowling Selected Research

Congenital Structural Myopathies (Centronuclear Myopathy)

1/2022	Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
10/2021	Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
11/2020	Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.
10/2020	rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.
6/2020	Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.
1/2020	Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.
12/2019	Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
6/2019	Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.
1/2019	Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
11/2018	Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.

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Belinda S Cowling Research Topics

Disease

22	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2022 - 05/2011
10	Muscular Diseases (Myopathy) 01/2022 - 03/2008
4	Disease Progression 01/2022 - 01/2012
4	Neuromuscular Diseases (Neuromuscular Disease) 01/2020 - 01/2012
2	Muscle Weakness 01/2022 - 05/2011
2	Neoplasms (Cancer) 01/2020 - 08/2013
1	Rare Diseases (Rare Disease) 01/2021
1	Brain Diseases (Brain Disorder) 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 06/2019
1	Paralysis (Palsy) 11/2018
1	Breast Neoplasms (Breast Cancer) 11/2018
1	Atrophy 10/2017
1	Peripheral Nervous System Diseases (PNS Diseases) 10/2017
1	Muscle Hypotonia (Hypotonia) 03/2014
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 02/2014
1	Hypertrophy 02/2014
1	Prostatic Neoplasms (Prostate Cancer) 08/2013
1	Myotonic Dystrophy (Dystrophia Myotonica) 06/2013
1	Rigid spine syndrome 09/2009
1	Scapuloperoneal myopathy 09/2009
1	Muscular Atrophy (Muscle Atrophy) 09/2009

Drug/Important Bio-Agent (IBA)

13	Dynamin IIIBA 01/2022 - 05/2011
11	Proteins (Proteins, Gene)FDA Link 01/2022 - 03/2008
9	myotubularinIBA 10/2021 - 01/2012
8	amphiphysinIBA 01/2022 - 01/2012
4	Antisense OligonucleotidesIBA 01/2022 - 01/2017
4	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019 - 01/2012
3	Dynamins (Dynamin)IBA 01/2022 - 01/2012
3	Protein Isoforms (Isoforms)IBA 11/2020 - 09/2009
3	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2018 - 01/2012
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 10/2021 - 01/2018
2	Phosphoinositide PhosphatasesIBA 10/2021 - 04/2013
2	Tamoxifen FDA LinkGeneric 10/2021 - 11/2018
2	Biomarkers (Surrogate Marker)IBA 01/2021 - 06/2020
2	GTP Phosphohydrolases (GTPases)IBA 01/2020 - 01/2018
2	phosphatidylinositol 3-phosphateIBA 04/2013 - 01/2012
1	CalciumIBA 10/2021
1	MyostatinIBA 06/2020
1	Pharmaceutical PreparationsIBA 11/2018
1	Small Interfering RNA (siRNA)IBA 01/2018
1	UtrophinIBA 02/2014
1	AndrogensIBA 08/2013
1	CalpainIBA 08/2013
1	Transcription Factors (Transcription Factor)IBA 08/2013
1	FilaminsIBA 08/2013
1	Androgen Receptors (Androgen Receptor)IBA 08/2013
1	LigandsIBA 08/2013
1	phosphatidylinositol 5-phosphateIBA 01/2012

Therapy/Procedure

7	Therapeutics 10/2020 - 08/2013
1	Intramuscular Injections 01/2018