Gupta V - Search Results

1

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.

Shamseldin HE, Bennett AH, Alfadhel M, Gupta V, Alkuraya FS. Shamseldin HE, et al. Among authors: gupta v. Hum Genet. 2016 Feb;135(2):245-251. doi: 10.1007/s00439-015-1632-8. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742501 Free PMC article.

2

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH. Gupta V, et al. Hum Mol Genet. 2011 May 1;20(9):1712-25. doi: 10.1093/hmg/ddr047. Epub 2011 Feb 4. Hum Mol Genet. 2011. PMID: 21296866 Free PMC article.

3

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA. Manzini MC, et al. Among authors: gupta va. Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009. Am J Hum Genet. 2012. PMID: 22958903 Free PMC article.

4

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Gupta VA, et al. Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268659 Free PMC article.

5

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.

Smith LL, Gupta VA, Beggs AH. Smith LL, et al. Hum Mol Genet. 2014 Jul 1;23(13):3566-78. doi: 10.1093/hmg/ddu067. Epub 2014 Feb 18. Hum Mol Genet. 2014. PMID: 24549043 Free PMC article.

6

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. Di Costanzo S, et al. Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11. Hum Mol Genet. 2014. PMID: 24925318 Free PMC article.

7

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS. Patel N, et al. Hum Mol Genet. 2014 Dec 15;23(24):6584-93. doi: 10.1093/hmg/ddu384. Epub 2014 Jul 23. Hum Mol Genet. 2014. PMID: 25055871 Free PMC article.

8

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS. Shamseldin HE, et al. Hum Genet. 2016 Jan;135(1):21-30. doi: 10.1007/s00439-015-1608-8. Epub 2015 Nov 5. Hum Genet. 2016. PMID: 26541337 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. 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

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.

Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, Beggs AH, Gupta VA. Bennett AH, et al. PLoS Genet. 2018 Mar 8;14(3):e1007226. doi: 10.1371/journal.pgen.1007226. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29518074 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

7,985 results

Search Page

Filters