159 related articles for article (PubMed ID: 37525043)
1. The Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes.
Yapijakis C; Davaria S; Gintoni I; Chrousos GP
Adv Exp Med Biol; 2023; 1423():187-191. PubMed ID: 37525043
[TBL] [Abstract][Full Text] [Related]
2. Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice.
Iwata J; Hacia JG; Suzuki A; Sanchez-Lara PA; Urata M; Chai Y
J Clin Invest; 2012 Mar; 122(3):873-85. PubMed ID: 22326956
[TBL] [Abstract][Full Text] [Related]
3. Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL; Schwarze U; Holm T; Callewaert BL; Thomas GH; Pannu H; De Backer JF; Oswald GL; Symoens S; Manouvrier S; Roberts AE; Faravelli F; Greco MA; Pyeritz RE; Milewicz DM; Coucke PJ; Cameron DE; Braverman AC; Byers PH; De Paepe AM; Dietz HC
N Engl J Med; 2006 Aug; 355(8):788-98. PubMed ID: 16928994
[TBL] [Abstract][Full Text] [Related]
4. Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.
Wellbrock J; Sheikhzadeh S; Oliveira-Ferrer L; Stamm H; Hillebrand M; Keyser B; Klokow M; Vohwinkel G; Bonk V; Otto B; Streichert T; Balabanov S; Hagel C; Rybczynski M; Bentzien F; Bokemeyer C; von Kodolitsch Y; Fiedler W
PLoS One; 2014; 9(8):e104742. PubMed ID: 25116393
[TBL] [Abstract][Full Text] [Related]
5. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
Gallo EM; Loch DC; Habashi JP; Calderon JF; Chen Y; Bedja D; van Erp C; Gerber EE; Parker SJ; Sauls K; Judge DP; Cooke SK; Lindsay ME; Rouf R; Myers L; ap Rhys CM; Kent KC; Norris RA; Huso DL; Dietz HC
J Clin Invest; 2014 Jan; 124(1):448-60. PubMed ID: 24355923
[TBL] [Abstract][Full Text] [Related]
6. Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.
Breckpot J; Budts W; De Zegher F; Vermeesch JR; Devriendt K
Eur J Med Genet; 2010; 53(6):408-10. PubMed ID: 20813212
[TBL] [Abstract][Full Text] [Related]
7. A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
Jamsheer A; Henggeler C; Wierzba J; Loeys B; De Paepe A; Stheneur Ch; Badziag N; Matuszewska K; Matyas G; Latos-Bielenska A
J Appl Genet; 2009; 50(4):405-10. PubMed ID: 19875893
[TBL] [Abstract][Full Text] [Related]
8. Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.
Almpani K; Liberton DK; Jani P; Keyvanfar C; Mishra R; Curry N; Orzechowski P; Frischmeyer-Guerrerio PA; Lee JS
J Med Genet; 2022 Oct; 59(10):938-946. PubMed ID: 34916229
[TBL] [Abstract][Full Text] [Related]
9. Functional validation reveals the novel missense V419L variant in
Cousin MA; Zimmermann MT; Mathison AJ; Blackburn PR; Boczek NJ; Oliver GR; Lomberk GA; Urrutia RA; Deyle DR; Klee EW
Cold Spring Harb Mol Case Stud; 2017 Jul; 3(4):. PubMed ID: 28679693
[TBL] [Abstract][Full Text] [Related]
10. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
Drera B; Ritelli M; Zoppi N; Wischmeijer A; Gnoli M; Fattori R; Calzavara-Pinton PG; Barlati S; Colombi M
Orphanet J Rare Dis; 2009 Nov; 4():24. PubMed ID: 19883511
[TBL] [Abstract][Full Text] [Related]
11. TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
Cardoso S; Robertson SP; Daniel PB
J Recept Signal Transduct Res; 2012 Jun; 32(3):150-5. PubMed ID: 22414221
[TBL] [Abstract][Full Text] [Related]
12. Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome.
Dewan AK; Tomlinson RE; Mitchell S; Goh BC; Yung RM; Kumar S; Tan EW; Faugere MC; Dietz HC; Clemens TL; Sponseller PD
J Orthop Res; 2015 Oct; 33(10):1447-54. PubMed ID: 26173585
[TBL] [Abstract][Full Text] [Related]
13. Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L; Ritelli M; Wischmeijer A; Majore S; Cinquina V; Fortugno P; Monetta R; Gigante L; Marfan Syndrome Study Group Tor Vergata University Hospital ; Sangiuolo FC; Novelli G; Colombi M; Brancati F
Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31569402
[TBL] [Abstract][Full Text] [Related]
14. TGF-β-activated kinase 1 (Tak1) mediates agonist-induced Smad activation and linker region phosphorylation in embryonic craniofacial neural crest-derived cells.
Yumoto K; Thomas PS; Lane J; Matsuzaki K; Inagaki M; Ninomiya-Tsuji J; Scott GJ; Ray MK; Ishii M; Maxson R; Mishina Y; Kaartinen V
J Biol Chem; 2013 May; 288(19):13467-80. PubMed ID: 23546880
[TBL] [Abstract][Full Text] [Related]
15. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D; Tortora G; Morisaki H; MacCarrick G; Lindsay M; Liang D; Mehta SG; Hague J; Verhagen J; van de Laar I; Wessels M; Detisch Y; van Haelst M; Baas A; Lichtenbelt K; Braun K; van der Linde D; Roos-Hesselink J; McGillivray G; Meester J; Maystadt I; Coucke P; El-Khoury E; Parkash S; Diness B; Risom L; Scurr I; Hilhorst-Hofstee Y; Morisaki T; Richer J; Désir J; Kempers M; Rideout AL; Horne G; Bennett C; Rahikkala E; Vandeweyer G; Alaerts M; Verstraeten A; Dietz H; Van Laer L; Loeys B
Hum Mutat; 2018 May; 39(5):621-634. PubMed ID: 29392890
[TBL] [Abstract][Full Text] [Related]
16. Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.
Jani P; Nguyen QC; Almpani K; Keyvanfar C; Mishra R; Liberton D; Orzechowski P; Frischmeyer-Guerrerio PA; Duverger O; Lee JS
J Med Genet; 2020 Oct; 57(10):699-707. PubMed ID: 32152251
[No Abstract] [Full Text] [Related]
17. Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.
Wheeler JB; Ikonomidis JS; Jones JA
Adv Exp Med Biol; 2014; 802():107-27. PubMed ID: 24443024
[TBL] [Abstract][Full Text] [Related]
18. Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
Yang JH; Ki CS; Han H; Song BG; Jang SY; Chung TY; Sung K; Lee HJ; Kim DK
J Hum Genet; 2012 Jan; 57(1):52-6. PubMed ID: 22113417
[TBL] [Abstract][Full Text] [Related]
19. Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
Kirmani S; Tebben PJ; Lteif AN; Gordon D; Clarke BL; Hefferan TE; Yaszemski MJ; McGrann PS; Lindor NM; Ellison JW
Am J Med Genet A; 2010 Apr; 152A(4):1016-9. PubMed ID: 20358619
[TBL] [Abstract][Full Text] [Related]
20. Cell autonomous requirement for Tgfbr2 in the disappearance of medial edge epithelium during palatal fusion.
Xu X; Han J; Ito Y; Bringas P; Urata MM; Chai Y
Dev Biol; 2006 Sep; 297(1):238-48. PubMed ID: 16780827
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
