Results 111 to 120 of about 409,422 (304)

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, EarlyView.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐ Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +1 more source

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Revista de Biología Tropical, 2008
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, Xi Lin, Tetsuo Ashizawa   +8 more
doaj  

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

Frontiers in Genetics
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1.
Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Dario Ronchi, Dario Ronchi   +10 more
doaj   +1 more source

Barnes Hospital Bulletin [PDF]

, 1987
https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1251/thumbnail ...
Giorgi, Gabriel
core   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report

Heliyon
Most pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, most ...
Chang Liu, Yanyu Lu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Xinchao Cheng, Fangfang Niu, Yawen Zhao, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Yun Yuan, Zhiying Xie   +12 more
doaj   +1 more source

Systematic Development of Trans-Theoretically Based Behavioral Risk Management Programs [PDF]

, 1993
The authors explain the development and use of a behavioral Risk management strategy. It is designed for developing interventions to change behaviors, e.g., to lower the Risk of AIDS.
Cole, Galen E., Holtgrave, David R., Rios, Nilka M.   +2 more
core   +2 more sources

Development and adoption of Kernza—A perennial grain crop for sustainable agriculture

PLANTS, PEOPLE, PLANET, EarlyView.
Annual cereal grains account for ~50% of human food calories, but cultivation of these crops has resulted in major environmental and social issues worldwide. For nearly three decades, researchers have been breeding intermediate wheatgrass—a perennial cool‐season grass—to serve as the world's first commercial‐scale perennial grain crop to improve ...
Jessica L. Gutknecht, James A. Anderson, George Annor, Prabin Bajgain, Timothy E. Crews, Colin Cureton, Lee DeHaan, Erin Meier, Tessa Peters, Valentín Picasso, Evelyn C. Reilly, Aaron Reser, Tara Ritter, Aubrey Streit Krug, Nicole Tautges, Jacob M. Jungers   +15 more
wiley   +1 more source

From traditional knowledge to market: A pathway for ethical commercialisation of Indigenous food products

PLANTS, PEOPLE, PLANET, EarlyView.
Global legal frameworks seek to ensure that benefits arising from the use of biological resources are shared fairly, yet their practical application—particularly where plant materials and Indigenous knowledge are involved—remains challenging. This article presents a case study modelling a pathway for ethical research and commercialisation of Indigenous
Jessica Cartwright, Jocelyn Bosse, Madonna Thomson, Yasmina F. Sultanbawa, Michael E. Netzel, Olivia R. L. Wright   +5 more
wiley   +1 more source

Reversal of Antithrombotic Therapy

JACC: Basic to Translational Science, 2017
Richard C. Becker, MD
doaj   +1 more source