288 related articles for article (PubMed ID: 22751498)
21. NMR resonance assignments of the EVH1 domain of neurofibromin's recruitment factor Spred1.
Führer S; Ahammer L; Ausserbichler A; Scheffzek K; Dunzendorfer-Matt T; Tollinger M
Biomol NMR Assign; 2017 Oct; 11(2):305-308. PubMed ID: 28831766
[TBL] [Abstract][Full Text] [Related]
22. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.
Muram-Zborovski TM; Vaughn CP; Viskochil DH; Hanson H; Mao R; Stevenson DA
Am J Med Genet A; 2010 Aug; 152A(8):1973-8. PubMed ID: 20602485
[TBL] [Abstract][Full Text] [Related]
23. Family with Legius syndrome (neurofibromatosis type 1-like syndrome).
Sakai N; Maeda T; Kawakami H; Uchiyama M; Harada K; Tsuboi R; Mitsuhashi Y
J Dermatol; 2015 Jul; 42(7):703-5. PubMed ID: 25981987
[TBL] [Abstract][Full Text] [Related]
24. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Brems H; Chmara M; Sahbatou M; Denayer E; Taniguchi K; Kato R; Somers R; Messiaen L; De Schepper S; Fryns JP; Cools J; Marynen P; Thomas G; Yoshimura A; Legius E
Nat Genet; 2007 Sep; 39(9):1120-6. PubMed ID: 17704776
[TBL] [Abstract][Full Text] [Related]
25. Impaired instrumental learning in Spred1
Borrie SC; Horner AE; Yoshimura A; Legius E; Kopanitsa MV; Brems H
Genes Brain Behav; 2021 Jun; 20(5):e12727. PubMed ID: 33624414
[TBL] [Abstract][Full Text] [Related]
26. Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T; Santoro C; Torella A; Del Vecchio Blanco F; Grandone A; Onore ME; Melone MAB; Straccia G; Melis D; Piccolo V; Limongelli G; Buono S; Perrotta S; Nigro V; Piluso G
Genes (Basel); 2019 Jul; 10(8):. PubMed ID: 31370276
[TBL] [Abstract][Full Text] [Related]
27. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
Abramowicz A; Gos M
Dev Period Med; 2014; 18(3):297-306. PubMed ID: 25182393
[TBL] [Abstract][Full Text] [Related]
28. MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.
Borrie SC; Plasschaert E; Callaerts-Vegh Z; Yoshimura A; D'Hooge R; Elgersma Y; Kushner SA; Legius E; Brems H
Mol Autism; 2021 Jul; 12(1):53. PubMed ID: 34311771
[TBL] [Abstract][Full Text] [Related]
29. [A novel neurocutaneous syndrome: Legius syndrome. A case report].
Cemeli-Cano M; Peña-Segura JL; Fernando-Martínez R; Izquierdo-Álvarez S; Monge-Galindo L; López-Pisón J
Rev Neurol; 2014 Sep; 59(5):209-12. PubMed ID: 25156025
[TBL] [Abstract][Full Text] [Related]
30. Neurofibromin Deficiency Causes Epidermal Growth Factor Receptor Upregulation through the Activation of Ras/ERK/SP1 Signaling Pathway in Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheet Tumor.
Park GH; Lee SJ; Lee CG; Kim J; Park E; Jeong SY
Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948100
[TBL] [Abstract][Full Text] [Related]
31. Legius syndrome: A case report.
Kimura R; Yoshida Y; Maruoka R; Kosaki K; Yamamoto O
J Dermatol; 2017 Apr; 44(4):459-460. PubMed ID: 28378438
[TBL] [Abstract][Full Text] [Related]
32. Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice.
Sharma R; Wu X; Rhodes SD; Chen S; He Y; Yuan J; Li J; Yang X; Li X; Jiang L; Kim ET; Stevenson DA; Viskochil D; Xu M; Yang FC
Hum Mol Genet; 2013 Dec; 22(23):4818-28. PubMed ID: 23863460
[TBL] [Abstract][Full Text] [Related]
33. Sprouty-related Ena/vasodilator-stimulated phosphoprotein homology 1-domain-containing protein (SPRED1), a tyrosine-protein phosphatase non-receptor type 11 (SHP2) substrate in the Ras/extracellular signal-regulated kinase (ERK) pathway.
Quintanar-Audelo M; Yusoff P; Sinniah S; Chandramouli S; Guy GR
J Biol Chem; 2011 Jul; 286(26):23102-12. PubMed ID: 21531714
[TBL] [Abstract][Full Text] [Related]
34. Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1).
Chiu YE; Dugan S; Basel D; Siegel DH
Pediatr Dermatol; 2013; 30(3):379-82. PubMed ID: 23016555
[TBL] [Abstract][Full Text] [Related]
35. Epilepsy in Legius syndrome: Coincidence or causation?
Medina Lemus A; Boelman C; Myers KA
Am J Med Genet A; 2024 Jun; 194(6):e63547. PubMed ID: 38268057
[TBL] [Abstract][Full Text] [Related]
36. Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas.
Stevenson D; Viskochil D
JAMA; 2009 Nov; 302(19):2150-1. PubMed ID: 19920242
[No Abstract] [Full Text] [Related]
37. Legius syndrome in fourteen families.
Denayer E; Chmara M; Brems H; Kievit AM; van Bever Y; Van den Ouweland AM; Van Minkelen R; de Goede-Bolder A; Oostenbrink R; Lakeman P; Beert E; Ishizaki T; Mori T; Keymolen K; Van den Ende J; Mangold E; Peltonen S; Brice G; Rankin J; Van Spaendonck-Zwarts KY; Yoshimura A; Legius E
Hum Mutat; 2011 Jan; 32(1):E1985-98. PubMed ID: 21089071
[TBL] [Abstract][Full Text] [Related]
38. Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.
Peltonen S; Kallionpää RA; Peltonen J
Exp Dermatol; 2017 Jul; 26(7):645-648. PubMed ID: 27622733
[TBL] [Abstract][Full Text] [Related]
39. Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2.
Patrakitkomjorn S; Kobayashi D; Morikawa T; Wilson MM; Tsubota N; Irie A; Ozawa T; Aoki M; Arimura N; Kaibuchi K; Saya H; Araki N
J Biol Chem; 2008 Apr; 283(14):9399-413. PubMed ID: 18218617
[TBL] [Abstract][Full Text] [Related]
40. The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.
Sekelska M; Briatkova L; Olcak T; Bolcekova A; Ilencikova D; Kadasi L; Zatkova A
Gen Physiol Biophys; 2017 Apr; 36(2):205-210. PubMed ID: 28150585
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
