351 related articles for article (PubMed ID: 23023332)
1. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Doyle AJ; Doyle JJ; Bessling SL; Maragh S; Lindsay ME; Schepers D; Gillis E; Mortier G; Homfray T; Sauls K; Norris RA; Huso ND; Leahy D; Mohr DW; Caulfield MJ; Scott AF; Destrée A; Hennekam RC; Arn PH; Curry CJ; Van Laer L; McCallion AS; Loeys BL; Dietz HC
Nat Genet; 2012 Nov; 44(11):1249-54. PubMed ID: 23023332
[TBL] [Abstract][Full Text] [Related]
2. Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.
Gori I; George R; Purkiss AG; Strohbuecker S; Randall RA; Ogrodowicz R; Carmignac V; Faivre L; Joshi D; Kjær S; Hill CS
Elife; 2021 Jan; 10():. PubMed ID: 33416497
[TBL] [Abstract][Full Text] [Related]
3. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
Verstraeten A; Alaerts M; Van Laer L; Loeys B
Hum Mutat; 2016 Jun; 37(6):524-31. PubMed ID: 26919284
[TBL] [Abstract][Full Text] [Related]
4. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
Au PY; Racher HE; Graham JM; Kramer N; Lowry RB; Parboosingh JS; Innes AM;
Am J Med Genet A; 2014 Mar; 164A(3):676-84. PubMed ID: 24357594
[TBL] [Abstract][Full Text] [Related]
5. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D; Doyle AJ; Oswald G; Sparks E; Myers L; Willems PJ; Mansour S; Simpson MA; Frysira H; Maat-Kievit A; Van Minkelen R; Hoogeboom JM; Mortier GR; Titheradge H; Brueton L; Starr L; Stark Z; Ockeloen C; Lourenco CM; Blair E; Hobson E; Hurst J; Maystadt I; Destrée A; Girisha KM; Miller M; Dietz HC; Loeys B; Van Laer L
Eur J Hum Genet; 2015 Feb; 23(2):224-8. PubMed ID: 24736733
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. TGF-β signalopathies as a paradigm for translational medicine.
Cannaerts E; van de Beek G; Verstraeten A; Van Laer L; Loeys B
Eur J Med Genet; 2015 Dec; 58(12):695-703. PubMed ID: 26598797
[TBL] [Abstract][Full Text] [Related]
8. Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.
Cook JR; Carta L; Galatioto J; Ramirez F
Clin Genet; 2015; 87(1):11-20. PubMed ID: 24867163
[TBL] [Abstract][Full Text] [Related]
9. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V; Thevenon J; Adès L; Callewaert B; Julia S; Thauvin-Robinet C; Gueneau L; Courcet JB; Lopez E; Holman K; Renard M; Plauchu H; Plessis G; De Backer J; Child A; Arno G; Duplomb L; Callier P; Aral B; Vabres P; Gigot N; Arbustini E; Grasso M; Robinson PN; Goizet C; Baumann C; Di Rocco M; Sanchez Del Pozo J; Huet F; Jondeau G; Collod-Beroud G; Beroud C; Amiel J; Cormier-Daire V; Rivière JB; Boileau C; De Paepe A; Faivre L
Am J Hum Genet; 2012 Nov; 91(5):950-7. PubMed ID: 23103230
[TBL] [Abstract][Full Text] [Related]
10. A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability.
Zhang L; Xu X; Sun K; Sun J; Wang Y; Liu Y; Yang N; Tao C; Cai B; Shi G; Zhang F; Shi J
Am J Med Genet A; 2019 Jun; 179(6):936-939. PubMed ID: 30883014
[TBL] [Abstract][Full Text] [Related]
11. A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Arnaud P; Racine C; Hanna N; Thevenon J; Alessandri JL; Bonneau D; Clayton-Smith J; Coubes C; Delobel B; Dupuis-Girod S; Gouya L; Odent S; Carmignac V; Thauvin-Robinet C; Le Goff C; Jondeau G; Boileau C; Faivre L
Hum Genet; 2020 Apr; 139(4):461-472. PubMed ID: 31980905
[TBL] [Abstract][Full Text] [Related]
12. TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
Takeda N; Hara H; Fujiwara T; Kanaya T; Maemura S; Komuro I
Int J Mol Sci; 2018 Jul; 19(7):. PubMed ID: 30037098
[TBL] [Abstract][Full Text] [Related]
13. Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.
Wheeler JB; Ikonomidis JS; Jones JA
Adv Exp Med Biol; 2021; 1348():161-184. PubMed ID: 34807419
[TBL] [Abstract][Full Text] [Related]
14. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Lindsay ME; Schepers D; Bolar NA; Doyle JJ; Gallo E; Fert-Bober J; Kempers MJ; Fishman EK; Chen Y; Myers L; Bjeda D; Oswald G; Elias AF; Levy HP; Anderlid BM; Yang MH; Bongers EM; Timmermans J; Braverman AC; Canham N; Mortier GR; Brunner HG; Byers PH; Van Eyk J; Van Laer L; Dietz HC; Loeys BL
Nat Genet; 2012 Jul; 44(8):922-7. PubMed ID: 22772368
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Shprintzen-Goldberg syndrome with plagiocephaly: A case report.
Hambire C
Dent Med Probl; 2019; 56(3):307-310. PubMed ID: 31577075
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Kuechler A; Altmüller J; Nürnberg P; Kotthoff S; Kubisch C; Borck G
Mol Cell Probes; 2015 Oct; 29(5):330-4. PubMed ID: 26184463
[TBL] [Abstract][Full Text] [Related]
20. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T; Matsumoto N
J Hum Genet; 2007; 52(1):1-12. PubMed ID: 17061023
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
