Results 91 to 100 of about 3,092 (251)

Hedgehog signalling acts upstream of Laminin alpha1 transcription in the zebrafish paraxial mesoderm [PDF]

, 2017
Laminin-111 (α1β1γ1) is a member of the Laminin family of extra-cellular matrix proteins that comprises 16 members, components of basement membranes.
Borycki, A.-G., Cunliffe, V.T., Pickering, J., Van Eeden, F.   +3 more
core   +1 more source

Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message This case highlights the challenges in diagnosing Bethlem myopathy, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can aid in early diagnosis and tailored management.
Maryam Kachuei, Kiana Orangi, Aynaz Mohammadi, Mohammad Mohammadi, Marzieh Mojbafan   +4 more
wiley   +1 more source

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

The congenital muscular dystrophies

Annals of the Child Neurology Society, Volume 2, Issue 1, Page 27-39, March 2024.
Abstract Background Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations in LMNA‐related muscular dystrophy and some collagen‐6‐associated disorders. Results CMD is characterized
Haluk Topaloğlu, Bita Poorshiri
wiley   +1 more source

Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice [PDF]

, 2013
Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies ...
Banerjee, Indroneal, Chen, Ju, Christodoulou, Danos C., Chu, Pao-Hsien, Cui, Ziyou, Domenighetti, Andrea A., Gokhin, David S., Gomes, Aldrin V., Gorham, Joshua M., Guo, Ling T., Lai, Xianyin, Li, Daniel Y., Lieber, Richard L., Parfenov, Michael G., Peter, Angela K., Seidman, Christine E., Seidman, Jonathan G., Sheikh, Farah, Shelton, G. Diane, Witzmann, Frank A., Wu, Tongbin   +20 more
core   +2 more sources

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies

Skeletal Muscle, 2011
Laminin-211 is a cell-adhesion molecule that is strongly expressed in the basement membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and integrin α7β1, laminin-211 is believed to protect the muscle fiber from damage under
Gawlik Kinga I, Durbeej Madeleine
doaj   +1 more source

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

Molecular Genetics & Genomic Medicine, 2020
Background Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found
Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini   +11 more
doaj   +1 more source

Speziesspezifische proteomische Aspekte der axonalen Regeneration retinaler Ganglienzellen am Beispiel der Ratte (Rattus norvegicus) und des Affen (Callithrix jacchus) [PDF]

, 2004
Die axonale Regeneration im Zentralen Nervensystem (ZNS) ist ein äußerst komplexer Vorgang, der unter natürlichen Bedingungen nicht stattfindet, gleichwohl jedoch prinzipiell möglich ist.
Imming, Peter (Prof. Dr.), Rose, Karin
core   +1 more source

Levels of α7 integrin and laminin-α2 are increased following prednisone treatment in the mdx mouse and GRMD dog models of Duchenne muscular dystrophy

Disease Models & Mechanisms, 2013
SUMMARY Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease for which there is no cure and limited treatment options. Prednisone is currently the first line treatment option for DMD and studies have demonstrated that it improves muscle ...
Ryan D. Wuebbles, Apurva Sarathy, Joe N. Kornegay, Dean J. Burkin   +3 more
doaj   +1 more source