Gould DB - Search Results

1

PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.

Thakore P, Yamasaki E, Ali S, Sanchez Solano A, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S. Thakore P, et al. Among authors: gould db. Proc Natl Acad Sci U S A. 2023 Aug 29;120(35):e2306479120. doi: 10.1073/pnas.2306479120. Epub 2023 Aug 22. Proc Natl Acad Sci U S A. 2023. PMID: 37607233 Free PMC article.

2

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. Among authors: gould db. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.

3

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. Labelle-Dumais C, et al. Among authors: gould db. PLoS Genet. 2011 May;7(5):e1002062. doi: 10.1371/journal.pgen.1002062. Epub 2011 May 19. PLoS Genet. 2011. PMID: 21625620 Free PMC article.

4

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB. Jeanne M, et al. Among authors: gould db. Am J Hum Genet. 2012 Jan 13;90(1):91-101. doi: 10.1016/j.ajhg.2011.11.022. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209247 Free PMC article.

5

COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB. Weng YC, et al. Among authors: gould db. Ann Neurol. 2012 Apr;71(4):470-7. doi: 10.1002/ana.22682. Ann Neurol. 2012. PMID: 22522439 Free PMC article.

6

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

Kuo DS, Labelle-Dumais C, Gould DB. Kuo DS, et al. Among authors: gould db. Hum Mol Genet. 2012 Oct 15;21(R1):R97-110. doi: 10.1093/hmg/dds346. Epub 2012 Aug 21. Hum Mol Genet. 2012. PMID: 22914737 Free PMC article. Review.

7

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB. Kuo DS, et al. Among authors: gould db. Hum Mol Genet. 2014 Apr 1;23(7):1709-22. doi: 10.1093/hmg/ddt560. Epub 2013 Nov 7. Hum Mol Genet. 2014. PMID: 24203695 Free PMC article.

8

Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.

Mao M, Alavi MV, Labelle-Dumais C, Gould DB. Mao M, et al. Among authors: gould db. Curr Top Membr. 2015;76:61-116. doi: 10.1016/bs.ctm.2015.09.002. Epub 2015 Oct 20. Curr Top Membr. 2015. PMID: 26610912 Review.

9

Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice.

Hayashi G, Labelle-Dumais C, Gould DB. Hayashi G, et al. Among authors: gould db. Dis Model Mech. 2018 Jul 4;11(7):dmm034157. doi: 10.1242/dmm.034157. Dis Model Mech. 2018. PMID: 29895609 Free PMC article.

10

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.

Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB. Labelle-Dumais C, et al. Among authors: gould db. Am J Hum Genet. 2019 May 2;104(5):847-860. doi: 10.1016/j.ajhg.2019.03.007. Am J Hum Genet. 2019. PMID: 31051113 Free PMC article.

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