PubMed for Bookshelf ID: 3094004

Year	Number of Results
1992	1
1993	1
1994	1
1999	1
2002	2
2003	1
2005	2
2007	4
2008	1
2009	7
2010	7
2011	5
2012	12
2013	4
2014	4
2015	4
2016	1
2017	1
2018	1
2019	3
2020	3
2022	1
2024	0

1

Variation among DNA banking consent forms: points for clinicians to bank on.

Huang SJ, Amendola LM, Sternen DL. Huang SJ, et al. J Community Genet. 2022 Aug;13(4):389-397. doi: 10.1007/s12687-022-00601-3. Epub 2022 Jul 14. J Community Genet. 2022. PMID: 35834113 Free PMC article.

2

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

3

TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca².

Woolums BM, McCray BA, Sung H, Tabuchi M, Sullivan JM, Ruppell KT, Yang Y, Mamah C, Aisenberg WH, Saavedra-Rivera PC, Larin BS, Lau AR, Robinson DN, Xiang Y, Wu MN, Sumner CJ, Lloyd TE. Woolums BM, et al. Nat Commun. 2020 May 29;11(1):2679. doi: 10.1038/s41467-020-16411-5. Nat Commun. 2020. PMID: 32471994 Free PMC article.

4

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ. Sullivan JM, et al. J Clin Invest. 2020 Mar 2;130(3):1506-1512. doi: 10.1172/JCI128152. J Clin Invest. 2020. PMID: 32065591 Free PMC article.

5

Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.

Faye E, Modaff P, Pauli R, Legare J. Faye E, et al. Mol Syndromol. 2019 May;10(3):154-160. doi: 10.1159/000495778. Epub 2018 Dec 21. Mol Syndromol. 2019. PMID: 31191204 Free PMC article. Review.

6

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA. Velilla J, et al. Neurol Genet. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31041394 Free PMC article.

7

TRPV4 is involved in levonorgestrel-induced reduction in oviduct ciliary beating.

Li C, Wu YT, Zhu Q, Zhang HY, Huang Z, Zhang D, Qi H, Liang GL, He XQ, Wang XF, Tang X, Huang HF, Zhang J. Li C, et al. J Pathol. 2019 May;248(1):77-87. doi: 10.1002/path.5233. Epub 2019 Mar 5. J Pathol. 2019. PMID: 30632164 Free PMC article.

8

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium; Friedman JM, Gibson WT, Horvath GA. Thibodeau ML, et al. Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12. Am J Med Genet A. 2017. PMID: 28898540

9

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Sullivan JM, Zimanyi CM, Aisenberg W, Bears B, Chen DH, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ. Sullivan JM, et al. Neurol Genet. 2015 Oct 22;1(4):e29. doi: 10.1212/NXG.0000000000000029. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066566 Free PMC article.

10

Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias.

Leddy HA, McNulty AL, Guilak F, Liedtke W. Leddy HA, et al. Rare Dis. 2014 Oct 30;2(1):e962971. doi: 10.4161/2167549X.2014.962971. eCollection 2014. Rare Dis. 2014. PMID: 26942100 Free PMC article.

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