283 related articles for article (PubMed ID: 30481304)
1. Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M; Fidan M; Bellacchio E; Pantaleoni F; Schneider-Heieck K; Coppola S; Borck G; Salviati L; Zenker M; Cirstea IC; Tartaglia M
Hum Mol Genet; 2019 Mar; 28(6):1007-1022. PubMed ID: 30481304
[TBL] [Abstract][Full Text] [Related]
2. LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases.
Abe T; Umeki I; Kanno SI; Inoue SI; Niihori T; Aoki Y
Cell Death Differ; 2020 Mar; 27(3):1023-1035. PubMed ID: 31337872
[TBL] [Abstract][Full Text] [Related]
3. Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
Steklov M; Pandolfi S; Baietti MF; Batiuk A; Carai P; Najm P; Zhang M; Jang H; Renzi F; Cai Y; Abbasi Asbagh L; Pastor T; De Troyer M; Simicek M; Radaelli E; Brems H; Legius E; Tavernier J; Gevaert K; Impens F; Messiaen L; Nussinov R; Heymans S; Eyckerman S; Sablina AA
Science; 2018 Dec; 362(6419):1177-1182. PubMed ID: 30442762
[TBL] [Abstract][Full Text] [Related]
4. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL; Aguena M; Gos M; Hung C; Pilch J; Fahiminiya S; Abramowicz A; Cristian I; Buscarilli M; Naslavsky MS; Malaquias AC; Zatz M; Bodamer O; Majewski J; Jorge AA; Pereira AC; Kim CA; Passos-Bueno MR; Bertola DR
J Med Genet; 2015 Jun; 52(6):413-21. PubMed ID: 25795793
[TBL] [Abstract][Full Text] [Related]
5. LZTR1: Genotype Expansion in Noonan Syndrome.
Güemes M; Martín-Rivada Á; Ortiz-Cabrera NV; Martos-Moreno GÁ; Pozo-Román J; Argente J
Horm Res Paediatr; 2019; 92(4):269-275. PubMed ID: 31533111
[TBL] [Abstract][Full Text] [Related]
6. The Noonan Syndrome Gene
Sewduth RN; Pandolfi S; Steklov M; Sheryazdanova A; Zhao P; Criem N; Baietti MF; Lechat B; Quarck R; Impens F; Sablina AA
Circ Res; 2020 May; 126(10):1379-1393. PubMed ID: 32175818
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT; Kaisaki PJ; Bennett F; Burkitt-Wright E; Martin HC; Ferla MP; Taylor JM; Gompertz L; Lahiri N; Tatton-Brown K; Newbury-Ecob R; Henderson A; Joss S; Weber A; Carmichael J; Turnpenny PD; McKee S; Forzano F; Ashraf T; Bradbury K; Shears D; Kini U; de Burca A; ; Blair E; Taylor JC; Stewart H
Clin Genet; 2019 Jun; 95(6):693-703. PubMed ID: 30859559
[TBL] [Abstract][Full Text] [Related]
9. Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish.
Nakagama Y; Takeda N; Ogawa S; Takeda H; Furutani Y; Nakanishi T; Sato T; Hirata Y; Oka A; Inuzuka R
Mol Genet Genomic Med; 2020 Mar; 8(3):e1107. PubMed ID: 31883238
[TBL] [Abstract][Full Text] [Related]
10. LZTR1: A promising adaptor of the CUL3 family.
Zhang H; Cao X; Wang J; Li Q; Zhao Y; Jin X
Oncol Lett; 2021 Jul; 22(1):564. PubMed ID: 34113392
[TBL] [Abstract][Full Text] [Related]
11. Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J; Huckstadt V; Mucciolo M; Lepri F; Novelli A; Gravina LP; Obregon MG
Am J Med Genet A; 2020 Feb; 182(2):409-414. PubMed ID: 31825158
[TBL] [Abstract][Full Text] [Related]
12. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
Tidyman WE; Rauen KA
Expert Rev Mol Med; 2008 Dec; 10():e37. PubMed ID: 19063751
[TBL] [Abstract][Full Text] [Related]
13. RIT1 oncoproteins escape LZTR1-mediated proteolysis.
Castel P; Cheng A; Cuevas-Navarro A; Everman DB; Papageorge AG; Simanshu DK; Tankka A; Galeas J; Urisman A; McCormick F
Science; 2019 Mar; 363(6432):1226-1230. PubMed ID: 30872527
[TBL] [Abstract][Full Text] [Related]
14. Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.
Hanses U; Kleinsorge M; Roos L; Yigit G; Li Y; Barbarics B; El-Battrawy I; Lan H; Tiburcy M; Hindmarsh R; Lenz C; Salinas G; Diecke S; Müller C; Adham I; Altmüller J; Nürnberg P; Paul T; Zimmermann WH; Hasenfuss G; Wollnik B; Cyganek L
Circulation; 2020 Sep; 142(11):1059-1076. PubMed ID: 32623905
[TBL] [Abstract][Full Text] [Related]
15. RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.
Brand K; Kentsch H; Glashoff C; Rosenberger G
Hum Mutat; 2014 Nov; 35(11):1372-81. PubMed ID: 25178484
[TBL] [Abstract][Full Text] [Related]
16. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Gripp KW; Aldinger KA; Bennett JT; Baker L; Tusi J; Powell-Hamilton N; Stabley D; Sol-Church K; Timms AE; Dobyns WB
Am J Med Genet A; 2016 Sep; 170(9):2237-47. PubMed ID: 27264673
[TBL] [Abstract][Full Text] [Related]
17. Generation of a Mouse Model to Study the Noonan Syndrome Gene
Talley MJ; Nardini D; Shabbir N; Ehrman LA; Prada CE; Waclaw RR
Front Cell Dev Biol; 2021; 9():673995. PubMed ID: 34222248
[TBL] [Abstract][Full Text] [Related]
18. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y; Niihori T; Banjo T; Okamoto N; Mizuno S; Kurosawa K; Ogata T; Takada F; Yano M; Ando T; Hoshika T; Barnett C; Ohashi H; Kawame H; Hasegawa T; Okutani T; Nagashima T; Hasegawa S; Funayama R; Nagashima T; Nakayama K; Inoue S; Watanabe Y; Ogura T; Matsubara Y
Am J Hum Genet; 2013 Jul; 93(1):173-80. PubMed ID: 23791108
[TBL] [Abstract][Full Text] [Related]
19. Structural Model for Recruitment of RIT1 to the LZTR1 E3 Ligase: Evidences from an Integrated Computational Approach.
Paladino A; D'Angelo F; Noviello TMR; Iavarone A; Ceccarelli M
J Chem Inf Model; 2021 Apr; 61(4):1875-1888. PubMed ID: 33792302
[TBL] [Abstract][Full Text] [Related]
20. LZTR1 is a regulator of RAS ubiquitination and signaling.
Bigenzahn JW; Collu GM; Kartnig F; Pieraks M; Vladimer GI; Heinz LX; Sedlyarov V; Schischlik F; Fauster A; Rebsamen M; Parapatics K; Blomen VA; Müller AC; Winter GE; Kralovics R; Brummelkamp TR; Mlodzik M; Superti-Furga G
Science; 2018 Dec; 362(6419):1171-1177. PubMed ID: 30442766
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]