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Items: 1 to 20 of 121

1.

How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

Edouard T, Montagner A, Dance M, Conte F, Yart A, Parfait B, Tauber M, Salles JP, Raynal P.

Cell Mol Life Sci. 2007 Jul;64(13):1585-90. Review.

PMID:
17453145
2.

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG.

J Biol Chem. 2006 Mar 10;281(10):6785-92. Epub 2005 Dec 23.

3.

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

Hanna N, Montagner A, Lee WH, Miteva M, Vidal M, Vidaud M, Parfait B, Raynal P.

FEBS Lett. 2006 May 1;580(10):2477-82. Epub 2006 Apr 12.

4.

Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.

Bocchinfuso G, Stella L, Martinelli S, Flex E, Carta C, Pantaleoni F, Pispisa B, Venanzi M, Tartaglia M, Palleschi A.

Proteins. 2007 Mar 1;66(4):963-74.

PMID:
17177198
6.
7.

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y.

J Hum Genet. 2005;50(4):192-202. Epub 2005 Apr 15.

PMID:
15834506
8.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.

Hum Mutat. 2008 Aug;29(8):992-1006. doi: 10.1002/humu.20748. Review.

PMID:
18470943
9.

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

Tidyman WE, Rauen KA.

Expert Rev Mol Med. 2008 Dec 9;10:e37. doi: 10.1017/S1462399408000902. Review.

PMID:
19063751
10.

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K.

J Med Genet. 2007 Feb;44(2):131-5. Epub 2006 Oct 20.

11.

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

Keilhack H, David FS, McGregor M, Cantley LC, Neel BG.

J Biol Chem. 2005 Sep 2;280(35):30984-93. Epub 2005 Jun 29.

12.

LEOPARD syndrome: clinical diagnosis in the first year of life.

Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R, Calabrò R, Marino B, Dallapiccola B.

Am J Med Genet A. 2006 Apr 1;140(7):740-6.

PMID:
16523510
13.

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.

Ogata T, Yoshida R.

Pediatr Endocrinol Rev. 2005 Jun;2(4):669-74. Review.

PMID:
16208280
14.

SHP-2 and myeloid malignancies.

Tartaglia M, Niemeyer CM, Shannon KM, Loh ML.

Curr Opin Hematol. 2004 Jan;11(1):44-50. Review.

PMID:
14676626
15.

Germline KRAS mutations cause Noonan syndrome.

Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP.

Nat Genet. 2006 Mar;38(3):331-6. Epub 2006 Feb 12. Erratum in: Nat Genet. 2006 May;38(5):598.

PMID:
16474405
16.

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.

Limongelli G, Hawkes L, Calabro R, McKenna WJ, Syrris P.

Eur J Med Genet. 2006 Sep-Oct;49(5):426-30. Epub 2006 Feb 3.

PMID:
16488201
17.

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD, Tartaglia M.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R220-6. Review.

PMID:
16987887
18.

Hyperactive Ras in developmental disorders and cancer.

Schubbert S, Shannon K, Bollag G.

Nat Rev Cancer. 2007 Apr;7(4):295-308. Review. Erratum in: Nat Rev Cancer. 2007 Jul;7(7):563.

PMID:
17384584
19.

Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells.

Schubbert S, Lieuw K, Rowe SL, Lee CM, Li X, Loh ML, Clapp DW, Shannon KM.

Blood. 2005 Jul 1;106(1):311-7. Epub 2005 Mar 10.

20.

[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].

Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE.

Tidsskr Nor Laegeforen. 2009 Nov 19;129(22):2358-61. doi: 10.4045/tidsskr.09.0267. Norwegian.

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