| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Alvee Saluja, L H Ghotekar, Shahbaz Anees, Anul Haque, Rajinder K Dhamij. An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy. Cureus. vol 16. issue 6. 2024-07-08. PMID:38975466. |
mutations in the alpha-2 subunits of the laminin gene (lama2) cause an autosomal recessive congenital muscular dystrophy (cmd) subtype known as laminin a2-related muscular dystrophies (lama2-rd). |
2024-07-08 |
2024-07-11 |
Not clear |
| Qiang Rui, Jing Tan, Jing Jin, Weijiao Ye, Yaping Zhou, Junqing Che. Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene. Stem cell research. vol 65. 2022-11-05. PMID:36334577. |
the ipsc line will help to further elucidate the pathogenic mechanisms of lama2 mutation, and benefit treatment for congenital muscular dystrophies in the future. |
2022-11-05 |
2023-08-14 |
Not clear |
| Susana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, John Vissing, Francina Munell, François Rivier, Tanya Stojkovic, Edoardo Malfatti, Marta Gómez García de la Banda, Giorgio Tasca, Laura Costa Comellas, Audrey Benezit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforêt, John Rendu, Norma B Romero, Eliana Cavassa, Fabiana Fattori, Christophe Beroud, Jana Zídková, Nicolas Leboucq, Nicoline Løkken, Ángel Sanchez-Montañez, Ximena Ortega, Martin Kynčl, Corinne Metay, David Gómez-Andrés, Robert Y Carlie. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort. Journal of neurology. 2021-09-24. PMID:34559299. |
diagnostic interest of whole-body mri in early- and late-onset lama2 muscular dystrophies: a large international cohort. |
2021-09-24 |
2023-08-13 |
Not clear |
| Susana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, John Vissing, Francina Munell, François Rivier, Tanya Stojkovic, Edoardo Malfatti, Marta Gómez García de la Banda, Giorgio Tasca, Laura Costa Comellas, Audrey Benezit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforêt, John Rendu, Norma B Romero, Eliana Cavassa, Fabiana Fattori, Christophe Beroud, Jana Zídková, Nicolas Leboucq, Nicoline Løkken, Ángel Sanchez-Montañez, Ximena Ortega, Martin Kynčl, Corinne Metay, David Gómez-Andrés, Robert Y Carlie. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort. Journal of neurology. 2021-09-24. PMID:34559299. |
lama2-related muscular dystrophy (lama2-rd) encompasses a group of recessive muscular dystrophies caused by mutations in the lama2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). |
2021-09-24 |
2023-08-13 |
Not clear |
| Alice Abdel Aleem, Mahmoud F Elsaid, Nader Chalhoub, Almahdi Chakroun, Khalid A S Mohamed, Rana AlShami, Omer Kuzu, Reem B Mohamed, Khalid Ibrahim, Noora AlMudheki, Omar Osman, M Elizabeth Ross, Osama ELalam. Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscular disorders : NMD. vol 30. issue 6. 2021-07-19. PMID:32444167. |
lama2 mutations constituted 48% of the genetic causes underlying congenital muscular dystrophies (cmds) in our patients. |
2021-07-19 |
2023-08-13 |
human |
| Chunping Qiao, Yi Dai, Viktoriya D Nikolova, Quan Jin, Jianbin Li, Bin Xiao, Juan Li, Sheryl S Moy, Xiao Xia. Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin. Molecular therapy. Methods & clinical development. vol 9. 2020-10-01. PMID:29766020. |
lama2-related muscular dystrophy (lama2 md) is the most common and fatal form of early-onset congenital muscular dystrophies. |
2020-10-01 |
2023-08-13 |
mouse |
| Jorge Oliveira, Angela Gruber, Márcio Cardoso, Ricardo Taipa, Isabel Fineza, Ana Gonçalves, Andreas Laner, Thomas L Winder, Jocelyn Schroeder, Julie Rath, Márcia E Oliveira, Emília Vieira, Ana Paula Sousa, José Pedro Vieira, Teresa Lourenço, Luciano Almendra, Luís Negrão, Manuela Santos, Manuel Melo-Pires, Teresa Coelho, Johan T den Dunnen, Rosário Santos, Mário Sous. LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. Human mutation. vol 39. issue 10. 2019-08-13. PMID:30055037. |
the phenotype associated with lama2 defects has been expanded to include milder and atypical cases, being now collectively known as lama2-related muscular dystrophies (lama2-md). |
2019-08-13 |
2023-08-13 |
Not clear |
| Gary L Gallia, Ming Zhang, Yi Ning, Michael C Haffner, Denise Batista, Zev A Binder, Justin A Bishop, Christine L Hann, Ralph H Hruban, Masaru Ishii, Alison P Klein, Douglas D Reh, Lisa M Rooper, Vafi Salmasi, Rafael J Tamargo, Qing Wang, Tara Williamson, Tianna Zhao, Ying Zou, Alan K Meeker, Nishant Agrawal, Bert Vogelstein, Kenneth W Kinzler, Nickolas Papadopoulos, Chetan Bettegowd. Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma. Nature communications. vol 9. issue 1. 2019-01-29. PMID:30575736. |
interestingly, one of the remaining tumors has a deletion in lama2, bringing the number of onbs with deletions of genes involved in the development of muscular dystrophies to 13 or 93%. |
2019-01-29 |
2023-08-13 |
Not clear |
| Michael J Menezes, Freyja K McClenahan, Cindy V Leiton, Azeez Aranmolate, Xiwei Shan, Holly Colognat. The extracellular matrix protein laminin α2 regulates the maturation and function of the blood-brain barrier. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 34. issue 46. 2015-02-09. PMID:25392494. |
these findings provide insight into the cell and molecular changes that occur in congenital muscular dystrophies caused by lama2 mutations or inappropriate dystroglycan post-translational modifications, which have accompanying brain abnormalities, including seizures. |
2015-02-09 |
2023-08-13 |
mouse |
| Ikhlass Hadj Salem, Fatma Kamoun, Nacim Louhichi, Souad Rouis, Mariam Mziou, Nourhene Fendri-Kriaa, Fatma Makni-Ayadi, Chahnez Triki, Faiza Fakhfak. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. Bioscience reports. vol 31. issue 2. 2011-03-11. PMID:20477750. |
mutations in lama2 and capn3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. |
2011-03-11 |
2023-08-12 |
Not clear |