PubMed (OMIM) for id: 8036

Year	Number of Results
1991	1
1997	1
1998	2
2003	1
2009	1
2010	1
2012	1
2013	1
2014	1
2017	1
2018	2
2019	3
2024	0

1

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.

Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A. Motta M, et al. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601

2

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. Umeki I, et al. Hum Genet. 2019 Jan;138(1):21-35. doi: 10.1007/s00439-018-1951-7. Epub 2018 Oct 27. Hum Genet. 2019. PMID: 30368668

3

SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.

Young LC, Hartig N, Boned Del Río I, Sari S, Ringham-Terry B, Wainwright JR, Jones GG, McCormick F, Rodriguez-Viciana P. Young LC, et al. Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10576-E10585. doi: 10.1073/pnas.1720352115. Epub 2018 Oct 22. Proc Natl Acad Sci U S A. 2018. PMID: 30348783 Free PMC article.

4

Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome.

Jang H, Oakley E, Forbes-Osborne M, Kesler MV, Norcross R, Morris AC, Galperin E. Jang H, et al. Hum Mol Genet. 2019 Feb 1;28(3):501-514. doi: 10.1093/hmg/ddy366. Hum Mol Genet. 2019. PMID: 30329053 Free PMC article.

5

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C. Bertola D, et al. Am J Med Genet A. 2017 Mar;173(3):824-828. doi: 10.1002/ajmg.a.38070. Am J Med Genet A. 2017. PMID: 28211982 Review.

6

A Novel SHOC2 Variant in Rasopathy.

Hannig V, Jeoung M, Jang ER, Phillips JA 3rd, Galperin E. Hannig V, et al. Hum Mutat. 2014 Nov;35(11):1290-4. doi: 10.1002/humu.22634. Epub 2014 Sep 11. Hum Mutat. 2014. PMID: 25137548 Free PMC article.

7

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2013 Oct;161A(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918763 Free PMC article.

8

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

Hoban R, Roberts AE, Demmer L, Jethva R, Shephard B. Hoban R, et al. Am J Med Genet A. 2012 Jun;158A(6):1411-3. doi: 10.1002/ajmg.a.35318. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528146

9

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y. Komatsuzaki S, et al. J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30. J Hum Genet. 2010. PMID: 20882035

10

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M. Cordeddu V, et al. Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16. Nat Genet. 2009. PMID: 19684605 Free PMC article.

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