Results 41 to 50 of about 3,944 (168)

Lama2 And Samsn1 Mediate the Effects of Brn4 on Hippocampal Neural Stem Cell Proliferation and Differentiation

Stem Cells International, 2023
The transcription factor Brn4 exhibits vital roles in the embryonic development of the neural tube, inner ear, pancreas islet, and neural stem cell differentiation.
Lei Zhang, Xunrui Zhang, Ruijie Ji, Yaya Ji, Yuhang Wu, Xiuyu Ding, Zhiying Shang, Xueyuan Liu, Wen Li, Jingjing Guo, Jue Wang, Xiang Cheng, Jianbing Qin, Meiling Tian, Guohua Jin, Xinhua Zhang   +15 more
doaj   +1 more source

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Frontiers in Neurology, 2023
Recessive pathogenic variants in the laminin subunit alpha 2 (LAMA2) gene cause a spectrum of disease ranging from severe congenital muscular dystrophy to later-onset limb girdle muscular dystrophy (LGMDR23).
Matthew Katz, Leigh B. Waddell, Leigh B. Waddell, Michaela Yuen, Michaela Yuen, Samantha J. Bryen, Samantha J. Bryen, Emily Oates, Fleur C. Garton, Thomas Robertson, Thomas Robertson, Robert David Henderson, Sandra T. Cooper, Sandra T. Cooper, Sandra T. Cooper, Pamela A. McCombe, Pamela A. McCombe   +16 more
doaj   +1 more source

Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD.

PLoS ONE, 2017
MicroRNAs (miRNAs) are short non-coding RNAs that modulate gene expression post-transcriptionally. Current evidence suggests that miR-21 plays a significant role in the progression of fibrosis in muscle diseases.
Bernardo Moreira Soares Oliveira, Madeleine Durbeej, Johan Holmberg   +2 more
doaj   +1 more source

Identification of basement membrane-related biomarkers associated with the diagnosis of osteoarthritis based on machine learning

BMC Medical Genomics, 2023
Background Osteoarthritis is a very common clinical disease in middle-aged and elderly individuals, and with the advent of ageing, the incidence of this disease is gradually increasing.
Xiaojing Huang, Hongming Meng, Zeyu Shou, Jiahuan Yu, Kai Hu, Liangyan Chen, Han Zhou, Zhibiao Bai, Chun Chen   +8 more
doaj   +1 more source

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

BMC Neurology, 2021
Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in the
Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans   +21 more
doaj   +1 more source

Identification of New Key Genes and Their Association with Breast Cancer Occurrence and Poor Survival Using In Silico and In Vitro Methods

Biomedicines, 2023
Breast cancer is one of the most prevalent types of cancer diagnosed globally and continues to have a significant impact on the global number of cancer deaths.
Rafat Ali, Armiya Sultan, Romana Ishrat, Shafiul Haque, Nida Jamil Khan, Miguel Angel Prieto   +5 more
doaj   +1 more source

MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (CMD1A): CLINICAL CASE OF CONGENITAL MUSCULAR DYSTROPHY INVOLVING CENTRAL NERVOUS SYSTEM

Педиатрическая фармакология, 2014
Congenital muscular dystrophies (CMDs) are an extremely heterogenous group of neuromuscular diseases. The article presents the general information on clinical and pathogenetic aspects of CMD diagnosis with emphasis on one of the most common forms of ...
O. A. Klochkova, A. L. Kurenkov, A. M. Mamed'yarov   +2 more
doaj   +1 more source

Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene

Stem Cell Research, 2023
Using peripheral blood mononuclear cell (PBMC) reprogramming technology, a human-induced pluripotent stem cell (iPSC) line was produced from a patient who presents classic clinical features of arrhythmogenic right ventricular cardiomyopathy (ARVA) and ...
Yue Wang, Yibing Fang, Yabo Wang, Shutao Xia, Donghui Zhang, Qi An, Yifei Li, Shuhua Luo   +7 more
doaj   +1 more source

LAMA2–ASSOCIATED CONGENITAL MUSCULAR DYSTROPHY: CASE REPORT

, 2021
Introduction: LAMA2 Associated Muscular Dystrophy (LAMA2-RD) is one of the most common forms of congenital muscular dystrophy worldwide. Mutations in the LAMA2 gene affect the production of the α2 subunit of lamin-211 (merosine) and result in partial or complete deficiency of lamin-211. Inheritance is usually autosomal recessive.
Ljelja Muaremoska Kanzoska, Duma, Filip, Dukovska, Valentina, Angelkova, Natalija, Useini, Shpresa Muaremoska, Mevmed Djaferi, Radevska, Ana Karandjinska   +6 more
openaire   +2 more sources

Laminin-α2 chain deficiency in skeletal muscle causes dysregulation of multiple cellular mechanisms

Life Science Alliance
This work reveals the defects caused by the absence of laminin-α2, including impaired myoblast proliferation and differentiation, DNA damage, oxidative stress, and mitochondrial dysfunction, highlighting its important role in muscle development and ...
Susana G Martins, Vanessa Ribeiro, Catarina Melo, Cláudia Paulino-Cavaco, Dario Antonini, Sharadha Dayalan Naidu, Fernanda Murtinheira, Inês Fonseca, Bérénice Saget, Mafalda Pita, Diogo R Fernandes, Pedro Gameiro dos Santos, Gabriela Rodrigues, Rita Zilhão, Federico Herrera, Albena T Dinkova-Kostova, Ana Rita Carlos, Sólveig Thorsteinsdóttir   +17 more
doaj   +1 more source