228 related articles for article (PubMed ID: 31401120)
21. SPRED 1 mutations in a neurofibromatosis clinic.
Muram-Zborovski TM; Stevenson DA; Viskochil DH; Dries DC; Wilson AR; Rong Mao
J Child Neurol; 2010 Oct; 25(10):1203-9. PubMed ID: 20179001
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR; Brems H; Gomes AG; Ruppert SL; Callens T; Williams J; Claes K; Bober MB; Hachen R; Kaban LB; Li H; Lin A; McDonald M; Melancon S; Ortenberg J; Radtke HB; Samson I; Saul RA; Shen J; Siqveland E; Toler TL; van Maarle M; Wallace M; Williams M; Legius E; Messiaen L
Genet Med; 2014 Jun; 16(6):448-59. PubMed ID: 24232412
[TBL] [Abstract][Full Text] [Related]
24. SPRED1 Interferes with K-ras but Not H-ras Membrane Anchorage and Signaling.
Siljamäki E; Abankwa D
Mol Cell Biol; 2016 Oct; 36(20):2612-25. PubMed ID: 27503857
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E; Sabbagh A; Hanna N; Masliah-Planchon J; Jolly E; Goussard P; Ballerini P; Cartault F; Barbarot S; Landman-Parker J; Soufir N; Parfait B; Vidaud M; Wolkenstein P; Vidaud D; France RN
J Med Genet; 2009 Jul; 46(7):425-30. PubMed ID: 19366998
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.
Tong HX; Li M; Zhang Y; Zhu J; Lu WQ
Genet Mol Res; 2012 Aug; 11(3):2972-8. PubMed ID: 22869071
[TBL] [Abstract][Full Text] [Related]
29. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
Thiel C; Wilken M; Zenker M; Sticht H; Fahsold R; Gusek-Schneider GC; Rauch A
Am J Med Genet A; 2009 Jun; 149A(6):1263-7. PubMed ID: 19449407
[TBL] [Abstract][Full Text] [Related]
30. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
Thomas L; Richards M; Mort M; Dunlop E; Cooper DN; Upadhyaya M
Hum Mutat; 2012 Dec; 33(12):1687-96. PubMed ID: 22807134
[TBL] [Abstract][Full Text] [Related]
31. Mechanistic Insights into the Long-range Allosteric Regulation of KRAS Via Neurofibromatosis Type 1 (NF1) Scaffold Upon SPRED1 Loading.
Li M; Wang Y; Fan J; Zhuang H; Liu Y; Ji D; Lu S
J Mol Biol; 2022 Sep; 434(17):167730. PubMed ID: 35872068
[TBL] [Abstract][Full Text] [Related]
32. The SPRED1 Variants Repository for Legius Syndrome.
Sumner K; Crockett DK; Muram T; Mallempati K; Best H; Mao R
G3 (Bethesda); 2011 Nov; 1(6):451-6. PubMed ID: 22384355
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Merlin cooperates with neurofibromin and Spred1 to suppress the Ras-Erk pathway.
Cui Y; Ma L; Schacke S; Yin JC; Hsueh YP; Jin H; Morrison H
Hum Mol Genet; 2021 Feb; 29(23):3793-3806. PubMed ID: 33331896
[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. Structural analysis of the GAP-related domain from neurofibromin and its implications.
Scheffzek K; Ahmadian MR; Wiesmüller L; Kabsch W; Stege P; Schmitz F; Wittinghofer A
EMBO J; 1998 Aug; 17(15):4313-27. PubMed ID: 9687500
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. Simultaneous Detection of
Bianchessi D; Ibba MC; Saletti V; Blasa S; Langella T; Paterra R; Cagnoli GA; Melloni G; Scuvera G; Natacci F; Cesaretti C; Finocchiaro G; Eoli M
Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32575496
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]