James V - Search Results

1

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W, Eickelberg O, Olschewski H, Elliott CG, Glissmeyer E, Carlquist J, Kim M, Torbicki A, Fijalkowska A, Szewczyk G, Parma J, Abramowicz MJ, Galie N, Morisaki H, Kyotani S, Nakanishi N, Morisaki T, Humbert M, Simonneau G, Sitbon O, Soubrier F, Coulet F, Morrell NW, Trembath RC. Machado RD, et al. Among authors: james v. Hum Mutat. 2006 Feb;27(2):121-32. doi: 10.1002/humu.20285. Hum Mutat. 2006. PMID: 16429395

2

Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.

Machado RD, James V, Southwood M, Harrison RE, Atkinson C, Stewart S, Morrell NW, Trembath RC, Aldred MA. Machado RD, et al. Among authors: james v. Circulation. 2005 Feb 8;111(5):607-13. doi: 10.1161/01.CIR.0000154543.07679.08. Circulation. 2005. PMID: 15699281

3

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.

Aldred MA, Vijayakrishnan J, James V, Soubrier F, Gomez-Sanchez MA, Martensson G, Galie N, Manes A, Corris P, Simonneau G, Humbert M, Morrell NW, Trembath RC. Aldred MA, et al. Among authors: james v. Hum Mutat. 2006 Feb;27(2):212-3. doi: 10.1002/humu.9398. Hum Mutat. 2006. PMID: 16429403

4

Serotonin increases susceptibility to pulmonary hypertension in BMPR2-deficient mice.

Long L, MacLean MR, Jeffery TK, Morecroft I, Yang X, Rudarakanchana N, Southwood M, James V, Trembath RC, Morrell NW. Long L, et al. Among authors: james v. Circ Res. 2006 Mar 31;98(6):818-27. doi: 10.1161/01.RES.0000215809.47923.fd. Epub 2006 Feb 23. Circ Res. 2006. PMID: 16497988

5

Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension.

Aldred MA, Machado RD, James V, Morrell NW, Trembath RC. Aldred MA, et al. Among authors: james v. Am J Respir Crit Care Med. 2007 Oct 15;176(8):819-24. doi: 10.1164/rccm.200701-164OC. Epub 2007 Jul 19. Am J Respir Crit Care Med. 2007. PMID: 17641158

6

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension.

Nasim MT, Ghouri A, Patel B, James V, Rudarakanchana N, Morrell NW, Trembath RC. Nasim MT, et al. Among authors: james v. Hum Mol Genet. 2008 Jun 1;17(11):1683-94. doi: 10.1093/hmg/ddn059. Epub 2008 Mar 4. Hum Mol Genet. 2008. PMID: 18321866

7

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ. Carta E, et al. J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14. J Biol Chem. 2012. PMID: 22700964 Free PMC article. Clinical Trial.

8

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

James VM, Bode A, Chung SK, Gill JL, Nielsen M, Cowan FM, Vujic M, Thomas RH, Rees MI, Harvey K, Keramidas A, Topf M, Ginjaar I, Lynch JW, Harvey RJ. James VM, et al. Neurobiol Dis. 2013 Apr;52:137-49. doi: 10.1016/j.nbd.2012.12.001. Epub 2012 Dec 10. Neurobiol Dis. 2013. PMID: 23238346 Free PMC article.

9

Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom.

Gill JL, James VM, Carta E, Harris D, Topf M, Scholes SF, Hateley G, Harvey RJ. Gill JL, et al. Among authors: james vm. Anim Genet. 2012 Jun;43(3):267-70. doi: 10.1111/j.1365-2052.2011.02255.x. Epub 2011 Sep 19. Anim Genet. 2012. PMID: 22486497

10

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.

James VM, Gill JL, Topf M, Harvey RJ. James VM, et al. Biol Chem. 2012 Apr;393(4):283-9. doi: 10.1515/BC-2011-232. Biol Chem. 2012. PMID: 22114948 Review.

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