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Items: 23

1.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649. Epub 2018 Nov 1. No abstract available.

2.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group, Vabres P, Semple RK, Biesecker LG.

Genet Med. 2019 May;21(5):1189-1198. doi: 10.1038/s41436-018-0297-9. Epub 2018 Oct 1.

PMID:
30270358
3.

MEDI0382, a GLP-1 and glucagon receptor dual agonist, in obese or overweight patients with type 2 diabetes: a randomised, controlled, double-blind, ascending dose and phase 2a study.

Ambery P, Parker VE, Stumvoll M, Posch MG, Heise T, Plum-Moerschel L, Tsai LF, Robertson D, Jain M, Petrone M, Rondinone C, Hirshberg B, Jermutus L.

Lancet. 2018 Jun 30;391(10140):2607-2618. doi: 10.1016/S0140-6736(18)30726-8. Epub 2018 Jun 23.

PMID:
29945727
4.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12. Erratum in: J Clin Invest. 2018 Nov 1;128(11):5185.

5.

Oncogenic PIK3CA induces centrosome amplification and tolerance to genome doubling.

Berenjeno IM, Piñeiro R, Castillo SD, Pearce W, McGranahan N, Dewhurst SM, Meniel V, Birkbak NJ, Lau E, Sansregret L, Morelli D, Kanu N, Srinivas S, Graupera M, Parker VER, Montgomery KG, Moniz LS, Scudamore CL, Phillips WA, Semple RK, Clarke A, Swanton C, Vanhaesebroeck B.

Nat Commun. 2017 Nov 24;8(1):1773. doi: 10.1038/s41467-017-02002-4.

6.

Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome.

Tripolszki K, Farkas K, Sulák A, Szolnoky G, Duga B, Melegh B, Knox RG, Parker VER, Semple RK, Kemény L, Széll M, Nagy N.

Clin Exp Dermatol. 2017 Oct;42(7):763-766. doi: 10.1111/ced.13154. Epub 2017 Jun 8.

PMID:
28598037
7.

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Leiter SM, Parker VER, Welters A, Knox R, Rocha N, Clark G, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham N, Martínez-Glez V, Allison M, O'Rahilly S, Barroso I, Meissner T, Davies S, Hussain K, Temple K, Barreda-Bonis AC, Kummer S, Semple RK.

Eur J Endocrinol. 2017 Aug;177(2):175-186. doi: 10.1530/EJE-17-0132. Epub 2017 May 31.

8.

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA.

Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):402-421. doi: 10.1002/ajmg.c.31531. Epub 2016 Nov 18. Review.

9.

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, Keppler-Noreuil KM.

Am J Med Genet A. 2016 Oct;170(10):2559-69. doi: 10.1002/ajmg.a.37758. Epub 2016 May 18. Review.

10.

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.

Castillo SD, Tzouanacou E, Zaw-Thin M, Berenjeno IM, Parker VE, Chivite I, Milà-Guasch M, Pearce W, Solomon I, Angulo-Urarte A, Figueiredo AM, Dewhurst RE, Knox RG, Clark GR, Scudamore CL, Badar A, Kalber TL, Foster J, Stuckey DJ, David AL, Phillips WA, Lythgoe MF, Wilson V, Semple RK, Sebire NJ, Kinsler VA, Graupera M, Vanhaesebroeck B.

Sci Transl Med. 2016 Mar 30;8(332):332ra43. doi: 10.1126/scitranslmed.aad9982.

11.

Phosphoinositide 3-kinase-related overgrowth: cellular phenotype and future therapeutic options.

Parker VE, Knox RG, Zhang Q, Wakelam MJ, Semple RK.

Lancet. 2015 Feb 26;385 Suppl 1:S77. doi: 10.1016/S0140-6736(15)60392-0.

PMID:
26312899
12.

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.

Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.

13.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG.

Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29.

14.

Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know.

Parker VE, Semple RK.

Eur J Endocrinol. 2013 Sep 12;169(4):R71-80. doi: 10.1530/EJE-13-0327. Print 2013 Oct. Review.

15.

Severe insulin resistance and hypertriglyceridemia after childhood total body irradiation.

Mayson SE, Parker VE, Schutta MH, Semple RK, Rickels MR.

Endocr Pract. 2013 Jan-Feb;19(1):51-8. doi: 10.4158/EP12115.OR.

16.

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK.

Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.

17.

Mechanistic insights into insulin resistance in the genetic era.

Parker VE, Savage DB, O'Rahilly S, Semple RK.

Diabet Med. 2011 Dec;28(12):1476-86. doi: 10.1111/j.1464-5491.2011.03463.x. Review.

PMID:
21992440
18.

Agrobacterium tumefaciens possesses a fourth flagelin gene located in a large gene cluster concerned with flagellar structure, assembly and motility.

Deakin WJ, Parker VE, Wright EL, Ashcroft KJ, Loake GJ, Shaw CH.

Microbiology. 1999 Jun;145 ( Pt 6):1397-407.

PMID:
10411267
21.

Nifedipine gastrointestinal therapeutic system in stable angina pectoris. Results of a multicenter open-label crossover comparison with standard nifedipine.

Vetrovec GW, Parker VE, Cole S, Procacci PM, Tabatznik B, Terry R.

Am J Med. 1987 Dec 21;83(6B):24-9.

PMID:
3140660

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