Dowling JJ - Search Results

1

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.

Ghasempour S, Warner N, Guan R, Rodari MM, Ivanochko D, Whittaker Hawkins R, Marwaha A, Nowak JK, Liang Y, Mulder DJ, Stallard L, Li M, Yu DD, Pluthero FG, Batura V, Zhao M, Siddiqui I, Upton JEM, Hulst JM, Kahr WHA, Mendoza-Londono R, Charbit-Henrion F, Hoefsloot LH, Khiat A, Moreira D, Trindade E, Espinheira MDC, Pinto Pais I, Weerts MJA, Douben H, Kotlarz D, Snapper SB, Klein C, Dowling JJ, Julien JP, Joosten M, Cerf-Bensussan N, Freeman SA, Parlato M, van Ham TJ, Muise AM. Ghasempour S, et al. Among authors: dowling jj. J Exp Med. 2024 Dec 2;221(12):e20240546. doi: 10.1084/jem.20240546. Epub 2024 Nov 11. J Exp Med. 2024. PMID: 39526957 Free PMC article.

2

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.

Zhao M, Maani N, Dowling JJ. Zhao M, et al. Among authors: dowling jj. Neurotherapeutics. 2018 Oct;15(4):966-975. doi: 10.1007/s13311-018-00686-0. Neurotherapeutics. 2018. PMID: 30426359 Free PMC article. Review.

3

Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.

Zhao M, Smith L, Volpatti J, Fabian L, Dowling JJ. Zhao M, et al. Among authors: dowling jj. Hum Mol Genet. 2019 Dec 15;28(24):4186-4196. doi: 10.1093/hmg/ddz260. Hum Mol Genet. 2019. PMID: 31691805

4

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.

Espinosa KG, Geissah S, Groom L, Volpatti J, Scott IC, Dirksen RT, Zhao M, Dowling JJ. Espinosa KG, et al. Among authors: dowling jj. Dis Model Mech. 2022 May 1;15(5):dmm049437. doi: 10.1242/dmm.049437. Epub 2022 May 9. Dis Model Mech. 2022. PMID: 35293586 Free PMC article.

5

PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.

Qashqari H, McNiven V, Gonorazky H, Mendoza-Londono R, Hassan A, Kulkarni T, Amburgey K, Dowling JJ. Qashqari H, et al. Among authors: dowling jj. Neuromuscul Disord. 2022 Oct;32(10):842-844. doi: 10.1016/j.nmd.2022.09.007. Epub 2022 Sep 22. Neuromuscul Disord. 2022. PMID: 36210261

6

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: dowling jj. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332

7

Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.

Endo Y, Groom L, Wang SM, Pannia E, Griffiths NW, Van Gennip JLM, Ciruna B, Laporte J, Dirksen RT, Dowling JJ. Endo Y, et al. Among authors: dowling jj. Hum Mol Genet. 2024 Jan 20;33(3):254-269. doi: 10.1093/hmg/ddad178. Hum Mol Genet. 2024. PMID: 37930228 Free PMC article.

8

The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy.

Cheng X, Zhang X, Gao Q, Ali Samie M, Azar M, Tsang WL, Dong L, Sahoo N, Li X, Zhuo Y, Garrity AG, Wang X, Ferrer M, Dowling J, Xu L, Han R, Xu H. Cheng X, et al. Nat Med. 2014 Oct;20(10):1187-92. doi: 10.1038/nm.3611. Epub 2014 Sep 14. Nat Med. 2014. PMID: 25216637 Free PMC article.

9

A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy.

Smith SJ, Wang JC, Gupta VA, Dowling JJ. Smith SJ, et al. Among authors: dowling jj. PLoS One. 2017 Feb 27;12(2):e0172648. doi: 10.1371/journal.pone.0172648. eCollection 2017. PLoS One. 2017. PMID: 28241031 Free PMC article.

10

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.

Smith SJ, Fabian L, Sheikh A, Noche R, Cui X, Moore SA, Dowling JJ. Smith SJ, et al. Among authors: dowling jj. Hum Mol Genet. 2022 Mar 3;31(5):733-747. doi: 10.1093/hmg/ddab278. Hum Mol Genet. 2022. PMID: 34568901 Free PMC article.

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