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Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.
Imani J, Bodine SPM, Lamattina AM, Ma DD, Shrestha S, Maynard DM, Bishop K, Nwokeji A, Malicdan MCV, Testa LC, Sood R, Stump B, Rosas IO, Perrella MA, Handin R, Young LR, Gochuico BR, El-Chemaly S. Imani J, et al. Among authors: maynard dm. Respir Res. 2022 Jun 23;23(1):167. doi: 10.1186/s12931-022-02083-w. Respir Res. 2022. PMID: 35739508 Free PMC article.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M. Stephen J, et al. Among authors: maynard dm. Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20. Hum Genet. 2017. PMID: 28220259 Free PMC article.
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program; Markello TC, Gunay-Aygun M, Huizing M, Gahl WA. Cullinane AR, et al. Among authors: maynard dm. J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16. J Invest Dermatol. 2011. PMID: 21677667 Free PMC article.
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. Gunay-Aygun M, et al. Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883. Nat Genet. 2011. PMID: 21765412 Free PMC article.
38 results