BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 21539844)

  • 21. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
    Kobayashi T; Aoki Y; Niihori T; Cavé H; Verloes A; Okamoto N; Kawame H; Fujiwara I; Takada F; Ohata T; Sakazume S; Ando T; Nakagawa N; Lapunzina P; Meneses AG; Gillessen-Kaesbach G; Wieczorek D; Kurosawa K; Mizuno S; Ohashi H; David A; Philip N; Guliyeva A; Narumi Y; Kure S; Tsuchiya S; Matsubara Y
    Hum Mutat; 2010 Mar; 31(3):284-94. PubMed ID: 20052757
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines.
    Yi JS; Perla S; Enyenihi L; Bennett AM
    JCI Insight; 2020 Aug; 5(15):. PubMed ID: 32584792
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome.
    Yin JC; Platt MJ; Tian X; Wu X; Backx PH; Simpson JA; Araki T; Neel BG
    Nat Commun; 2017 May; 8():15518. PubMed ID: 28548091
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Cardiovascular disease in Noonan syndrome.
    Pierpont ME; Digilio MC
    Curr Opin Pediatr; 2018 Oct; 30(5):601-608. PubMed ID: 30024444
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
    Ezquieta B; Santomé JL; Carcavilla A; Guillén-Navarro E; Pérez-Aytés A; Sánchez del Pozo J; García-Miñaur S; Castillo E; Alonso M; Vendrell T; Santana A; Maroto E; Galbis L
    Rev Esp Cardiol (Engl Ed); 2012 May; 65(5):447-55. PubMed ID: 22465605
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.
    Hopper RK; Feinstein JA; Manning MA; Benitz W; Hudgins L
    Am J Med Genet A; 2015 Apr; 167A(4):882-5. PubMed ID: 25706034
    [TBL] [Abstract][Full Text] [Related]  

  • 27. PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.
    Paardekooper Overman J; Yi JS; Bonetti M; Soulsby M; Preisinger C; Stokes MP; Hui L; Silva JC; Overvoorde J; Giansanti P; Heck AJ; Kontaridis MI; den Hertog J; Bennett AM
    Mol Cell Biol; 2014 Aug; 34(15):2874-89. PubMed ID: 24865967
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
    Yu KPT; Luk HM; Leung GKC; Mak CCY; Cheng SSW; Hau EWL; Chan DKH; Lam STS; Tong TMF; Chung BHY; Lo IFM
    Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):208-217. PubMed ID: 30896080
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
    Umeki I; Niihori T; Abe T; Kanno SI; Okamoto N; Mizuno S; Kurosawa K; Nagasaki K; Yoshida M; Ohashi H; Inoue SI; Matsubara Y; Fujiwara I; Kure S; Aoki Y
    Hum Genet; 2019 Jan; 138(1):21-35. PubMed ID: 30368668
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects.
    Jopling C; van Geemen D; den Hertog J
    PLoS Genet; 2007 Dec; 3(12):e225. PubMed ID: 18159945
    [TBL] [Abstract][Full Text] [Related]  

  • 31. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
    Ko JM; Kim JM; Kim GH; Yoo HW
    J Hum Genet; 2008; 53(11-12):999-1006. PubMed ID: 19020799
    [TBL] [Abstract][Full Text] [Related]  

  • 32. PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
    Lauriol J; Kontaridis MI
    Trends Cardiovasc Med; 2011 May; 21(4):97-104. PubMed ID: 22681964
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
    Şimşek-Kiper PÖ; Alanay Y; Gülhan B; Lissewski C; Türkyilmaz D; Alehan D; Cetin M; Utine GE; Zenker M; Boduroğlu K
    Clin Genet; 2013 Feb; 83(2):181-6. PubMed ID: 22420426
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
    Yagasaki H; Nakane T; Hasebe Y; Watanabe A; Kise H; Toda T; Koizumi K; Hoshiai M; Sugita K
    Am J Med Genet A; 2015 Dec; 167A(12):3144-7. PubMed ID: 26286251
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.
    Calcagni G; Digilio MC; Marino B; Tartaglia M
    Orphanet J Rare Dis; 2019 Jul; 14(1):163. PubMed ID: 31277675
    [TBL] [Abstract][Full Text] [Related]  

  • 36. LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.
    Ishida H; Kogaki S; Narita J; Ichimori H; Nawa N; Okada Y; Takahashi K; Ozono K
    Am J Physiol Heart Circ Physiol; 2011 Oct; 301(4):H1531-9. PubMed ID: 21803945
    [TBL] [Abstract][Full Text] [Related]  

  • 37. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
    Ogata T; Yoshida R
    Pediatr Endocrinol Rev; 2005 Jun; 2(4):669-74. PubMed ID: 16208280
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
    Lee CL; Tan LTH; Lin HY; Hwu WL; Lee NC; Chien YH; Chuang CK; Wu MH; Wang JK; Chu SY; Lin JL; Lo FS; Su PH; Hsu CC; Ko YY; Chen MR; Chiu HC; Lin SP
    Am J Med Genet A; 2020 Feb; 182(2):357-364. PubMed ID: 31837205
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome.
    Krenz M; Gulick J; Osinska HE; Colbert MC; Molkentin JD; Robbins J
    Proc Natl Acad Sci U S A; 2008 Dec; 105(48):18930-5. PubMed ID: 19017799
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].
    Liu XH; Ding WW; Han L; Liu XR; Xiao YY; Yang J; Mo Y
    Zhonghua Er Ke Za Zhi; 2017 Oct; 55(10):780-784. PubMed ID: 29050118
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.