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Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells.
Chandra G, Defour A, Mamchoui K, Pandey K, Mishra S, Mouly V, Sreetama S, Mahad Ahmad M, Mahjneh I, Morizono H, Pattabiraman N, Menon AK, Jaiswal JK. Chandra G, et al. Among authors: jaiswal jk. Cell Death Discov. 2019 Jul 18;5:118. doi: 10.1038/s41420-019-0197-z. eCollection 2019. Cell Death Discov. 2019. PMID: 31341644 Free PMC article.
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R. Jaiswal JK, et al. Traffic. 2007 Jan;8(1):77-88. doi: 10.1111/j.1600-0854.2006.00505.x. Epub 2006 Nov 21. Traffic. 2007. PMID: 17132147 Free article.
A new distal myopathy with mutation in anoctamin 5.
Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R. Mahjneh I, et al. Neuromuscul Disord. 2010 Dec;20(12):791-5. doi: 10.1016/j.nmd.2010.07.270. Epub 2010 Aug 7. Neuromuscul Disord. 2010. PMID: 20692837 Free PMC article.
Laminopathies disrupt epigenomic developmental programs and cell fate.
Perovanovic J, Dell'Orso S, Gnochi VF, Jaiswal JK, Sartorelli V, Vigouroux C, Mamchaoui K, Mouly V, Bonne G, Hoffman EP. Perovanovic J, et al. Among authors: jaiswal jk. Sci Transl Med. 2016 Apr 20;8(335):335ra58. doi: 10.1126/scitranslmed.aad4991. Sci Transl Med. 2016. PMID: 27099177 Free PMC article.
112 results