Results 41 to 50 of about 3,708 (153)

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

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

Identify and validate RUNX2 and LAMA2 as novel prognostic signatures and correlate with immune infiltrates in bladder cancer

Frontiers in Oncology, 2023
BackgroundMuscle-invasive bladder cancer (MIBC) develops lymph node (LN) metastasis or distant metastasis, leading to recurrence and poor prognosis. The five-year survival rate of MIBC with LN or distant metastasis is only 8.1%; therefore, there is an ...
Yi Jin, Yi Jin, Siwei Huang, Zhanwang Wang   +3 more
doaj   +1 more source

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients

Frontiers in Genetics, 2023
Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene.
Van Khanh Tran, Ngoc-Lan Nguyen, Lan Ngoc Thi Tran, Phuong Thi Le, Anh Hai Tran, Tuan L. A. Pham, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Tat Thanh, Thanh Van Ta, Thanh Van Ta, Thinh Huy Tran, Thinh Huy Tran, Huy-Hoang Nguyen, Huy-Hoang Nguyen   +14 more
doaj   +1 more source

Structure of the Human Laminin α2-Chain Gene (LAMA2), Which Is Affected in Congenital Muscular Dystrophy [PDF]

Journal of Biological Chemistry, 1996
We have determined the structure and complete exon size pattern of the human laminin alpha2-chain gene (LAMA2), which has been shown to be affected in congenital muscular dystrophy (Helbling-Leclerc, A., Zhang, X., Topaloglu, H., Cruaud, C., Tesson, F., Weissenbach, J., Tomé, F. M. S., Schwartz, K., Fardeau, M., Tryggvason, K., and Guicheney, P. (1995)
X, Zhang, R, Vuolteenaho, K, Tryggvason
openaire   +2 more sources

Whole-Body Muscle MRI Characteristics of LAMA2 Gene Mutation Congenital Muscular Dystrophy Children [PDF]

, 2021
Abstract Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement.
Hossam M. Sakr, Nagia Fahmy, Nermine S. Elsayed, Hala Abdulhady, Tamer A. El-Sobky, Amr M. Saadawy, Christophe Beroud, Bjarne Udd   +7 more
openaire   +1 more source

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

PLoS ONE, 2012
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature.
Vandana A Gupta, Genri Kawahara, Jennifer A Myers, Aye T Chen, Thomas E Hall, M Chiara Manzini, Peter D Currie, Yi Zhou, Leonard I Zon, Louis M Kunkel, Alan H Beggs   +10 more
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

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

Integrative Analysis of Plasma Proteome and Genome Reveals Novel Drug Targets for Chronic Rhinosinusitis and Nasal Polyps

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and nasal polyps (NP) are chronic inflammatory conditions with unsatisfactory treatment outcomes due to frequent recurrence of refractory disease. Identifying new therapeutic targets is essential. Methods We conducted a proteome‐wide Mendelian randomization (MR) analysis by integrating genome‐wide ...
En Zhou, Shi Luo, Yu Xiao, Bin Liu, Xu‐Ping Xiao   +4 more
wiley   +1 more source