187 related articles for article (PubMed ID: 32014856)
1. Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).
Biesecker LG; Edwards M; O'Donnell S; Doherty P; MacDougall T; Tith K; Kazakin J; Schwartz B
Cold Spring Harb Mol Case Stud; 2020 Feb; 6(1):. PubMed ID: 32014856
[TBL] [Abstract][Full Text] [Related]
2. First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.
Leoni C; Gullo G; Resta N; Fagotti A; Onesimo R; Schwartz B; Kazakin J; Abbadessa G; Crown J; Collins CD; Ranieri C; Scambia G; Zampino G
Am J Med Genet A; 2019 Jul; 179(7):1319-1324. PubMed ID: 31058421
[TBL] [Abstract][Full Text] [Related]
3. Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
Keppler-Noreuil KM; Sapp JC; Lindhurst MJ; Darling TN; Burton-Akright J; Bagheri M; Dombi E; Gruber A; Jarosinski PF; Martin S; Nathan N; Paul SM; Savage RE; Wolters PL; Schwartz B; Widemann BC; Biesecker LG
Am J Hum Genet; 2019 Mar; 104(3):484-491. PubMed ID: 30803705
[TBL] [Abstract][Full Text] [Related]
4. Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.
Forde K; Resta N; Ranieri C; Rea D; Kubassova O; Hinton M; Andrews KA; Semple R; Irvine AD; Dvorakova V
Orphanet J Rare Dis; 2021 Feb; 16(1):109. PubMed ID: 33639990
[TBL] [Abstract][Full Text] [Related]
5. Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome.
Ours CA; Sapp JC; Hodges MB; de Moya AJ; Biesecker LG
Cold Spring Harb Mol Case Stud; 2021 Dec; 7(6):. PubMed ID: 34649967
[TBL] [Abstract][Full Text] [Related]
6. Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.
Lindhurst MJ; Yourick MR; Yu Y; Savage RE; Ferrari D; Biesecker LG
Sci Rep; 2015 Dec; 5():17162. PubMed ID: 26657992
[TBL] [Abstract][Full Text] [Related]
7. A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.
Wee JS; Mortimer PS; Lindhurst MJ; Chong H; Biesecker LG; Holden CA
JAMA Dermatol; 2014 Sep; 150(9):990-3. PubMed ID: 24850616
[TBL] [Abstract][Full Text] [Related]
8. In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Ranieri C; Di Tommaso S; Loconte DC; Grossi V; Sanese P; Bagnulo R; Susca FC; Forte G; Peserico A; De Luisi A; Bartuli A; Selicorni A; Melis D; Lerone M; Praticò AD; Abbadessa G; Yu Y; Schwartz B; Ruggieri M; Simone C; Resta N
Neurogenetics; 2018 May; 19(2):77-91. PubMed ID: 29549527
[TBL] [Abstract][Full Text] [Related]
9. Miransertib (ARQ 092), an orally-available, selective Akt inhibitor is effective against Leishmania.
Nandan D; Zhang N; Yu Y; Schwartz B; Chen S; Kima PE; Reiner NE
PLoS One; 2018; 13(11):e0206920. PubMed ID: 30399177
[TBL] [Abstract][Full Text] [Related]
10. In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.
Wang J; Chandrasekhar V; Abbadessa G; Yu Y; Schwartz B; Kontaridis MI
PLoS One; 2017; 12(6):e0178905. PubMed ID: 28582432
[TBL] [Abstract][Full Text] [Related]
11. Allelic heterogeneity of Proteus syndrome.
Buser A; Lindhurst MJ; Kondolf HC; Yourick MR; Keppler-Noreuil KM; Sapp JC; Biesecker LG
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32327430
[TBL] [Abstract][Full Text] [Related]
12. Proteus syndrome review: molecular, clinical, and pathologic features.
Cohen MM
Clin Genet; 2014 Feb; 85(2):111-9. PubMed ID: 23992099
[TBL] [Abstract][Full Text] [Related]
13. [A clinical study of Proteus syndrome caused by a mosaic somatic mutation in AKT1 gene].
Xu Y; Fu WZ; He JW; Yue H; Zhang ZL
Zhonghua Nei Ke Za Zhi; 2019 Jul; 58(7):508-513. PubMed ID: 31269567
[No Abstract] [Full Text] [Related]
14. Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.
Schmidt J; Bremmer F; Brockmann K; Kaulfuß S; Wollnik B
Clin Genet; 2022 Sep; 102(3):239-241. PubMed ID: 35670639
[TBL] [Abstract][Full Text] [Related]
15. Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.
Valéra MC; Vaysse F; Bieth E; Longy M; Cances C; Bailleul-Forestier I
Eur J Med Genet; 2015 May; 58(5):300-4. PubMed ID: 25782637
[TBL] [Abstract][Full Text] [Related]
16. Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.
Saito T; Nakane T; Narusawa M; Yagasaki H; Nemoto A; Naito A; Sugita K
Am J Med Genet A; 2018 May; 176(5):1222-1224. PubMed ID: 29681107
[TBL] [Abstract][Full Text] [Related]
17. High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.
Wieland I; Tinschert S; Zenker M
Am J Med Genet A; 2013 Apr; 161A(4):889-91. PubMed ID: 23436452
[No Abstract] [Full Text] [Related]
18. Targeting AKT1-E17K and the PI3K/AKT Pathway with an Allosteric AKT Inhibitor, ARQ 092.
Yu Y; Savage RE; Eathiraj S; Meade J; Wick MJ; Hall T; Abbadessa G; Schwartz B
PLoS One; 2015; 10(10):e0140479. PubMed ID: 26469692
[TBL] [Abstract][Full Text] [Related]
19. Lack of mutation-histopathology correlation in a patient with Proteus syndrome.
Doucet ME; Bloomhardt HM; Moroz K; Lindhurst MJ; Biesecker LG
Am J Med Genet A; 2016 Jun; 170(6):1422-1432. PubMed ID: 27112325
[TBL] [Abstract][Full Text] [Related]
20. A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
Lindhurst MJ; Sapp JC; Teer JK; Johnston JJ; Finn EM; Peters K; Turner J; Cannons JL; Bick D; Blakemore L; Blumhorst C; Brockmann K; Calder P; Cherman N; Deardorff MA; Everman DB; Golas G; Greenstein RM; Kato BM; Keppler-Noreuil KM; Kuznetsov SA; Miyamoto RT; Newman K; Ng D; O'Brien K; Rothenberg S; Schwartzentruber DJ; Singhal V; Tirabosco R; Upton J; Wientroub S; Zackai EH; Hoag K; Whitewood-Neal T; Robey PG; Schwartzberg PL; Darling TN; Tosi LL; Mullikin JC; Biesecker LG
N Engl J Med; 2011 Aug; 365(7):611-9. PubMed ID: 21793738
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]