Results 81 to 90 of about 3,572 (228)

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
wiley   +1 more source

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Annals of Clinical and Translational Neurology, Volume 11, Issue 9, Page 2392-2405, September 2024.
Abstract Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts of arms and legs. Recently, variants in a new disease gene, ACTN2, have been shown to cause
Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese   +16 more
wiley   +1 more source

Expression and methylation status of LAMA2 are associated with the invasiveness of nonfunctioning PitNET

Therapeutic Advances in Endocrinology and Metabolism, 2019
The laminin subunit alpha 2 (LAMA2) gene encodes an alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin).
Ruo-Qiang Wang, Yu-Long Lan, Jia-Cheng Lou, Yi-Zhu Lyu, Yu-Chao Hao, Qian-Fei Su, Bin-Bin Ma, Zhong-Bo Yuan, Zhi-Kuan Yu, Hong-Qiang Zhang, Dong-Sheng Wang, Ting-Zhun Zhu, Yan Ding, Ning Zhang, Bo Zhang   +14 more
doaj   +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

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society, Volume 2, Issue 3, Page 242-247, September 2024.
Abstract Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities.
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
wiley   +1 more source

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

Midbrain and Hindbrain Involvement in Lissencephaly

Pediatric Neurology Briefs, 2009
Involvement of the midbrain and hindbrain (MHB) in the various groups of lissencephalies was examined in an MRI study of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) studied at University of California San Francisco, and centers in France,
J Gordon Millichap
doaj   +1 more source

Survie cellulaire : différences et différenciation [PDF]

, 2006
Les mécanismes de la régulation de la survie cellulaire et de l’apoptose sont d’une nature très complexe, impliquant de nombreux intervenants et de nombreuses voies de signalisation aussi bien dans la prise de décision de survivre (ou de mourir) que dans
Vachon, Pierre H.
core  

IMOM BUXORIY MEROSINING MA'NAVIY AHLOQIY AHAMIYATI

, 2022
Ushbu maqolada buyuk muhaddis Imom Buxoriyning hayot yo‘li va uning asarlari, hadislari haqida fikr yuritilgan.
Samatov Xurshid O'lmasjonovich, Ro'ziyev Bunyodbek Shoirovich   +1 more
openaire   +1 more source