240 related articles for article (PubMed ID: 22891920)
1. Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosis.
Zhang P; Huang A; Morales-Ruiz M; Starcher BC; Huang Y; Sessa WC; Niklason LE; Giordano FJ
Hum Gene Ther; 2012 Nov; 23(11):1186-99. PubMed ID: 22891920
[TBL] [Abstract][Full Text] [Related]
2. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.
Urbán Z; Riazi S; Seidl TL; Katahira J; Smoot LB; Chitayat D; Boyd CD; Hinek A
Am J Hum Genet; 2002 Jul; 71(1):30-44. PubMed ID: 12016585
[TBL] [Abstract][Full Text] [Related]
3. Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
Parrish PCR; Liu D; Knutsen RH; Billington CJ; Mecham RP; Fu YP; Kozel BA
Hum Mol Genet; 2020 Jul; 29(12):2035-2050. PubMed ID: 32412588
[TBL] [Abstract][Full Text] [Related]
4. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.
Micale L; Turturo MG; Fusco C; Augello B; Jurado LA; Izzi C; Digilio MC; Milani D; Lapi E; Zelante L; Merla G
Eur J Hum Genet; 2010 Mar; 18(3):317-23. PubMed ID: 19844261
[TBL] [Abstract][Full Text] [Related]
5. Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
Min S; Kinnear C; D'Alessandro LCA; Bouwmeester J; Yao R; Chiasson D; Keeley F; Mital S
Circ Genom Precis Med; 2020 Dec; 13(6):e002971. PubMed ID: 32960096
[TBL] [Abstract][Full Text] [Related]
6. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Delio M; Pope K; Wang T; Samanich J; Haldeman-Englert CR; Kaplan P; Shaikh TH; Cai J; Marion RW; Morrow BE; Babcock M
Am J Med Genet A; 2013 Mar; 161A(3):527-33. PubMed ID: 23401415
[TBL] [Abstract][Full Text] [Related]
7. Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
Urbán Z; Zhang J; Davis EC; Maeda GK; Kumar A; Stalker H; Belmont JW; Boyd CD; Wallace MR
Hum Genet; 2001 Nov; 109(5):512-20. PubMed ID: 11735026
[TBL] [Abstract][Full Text] [Related]
8. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Liu D; Billington CJ; Raja N; Wong ZC; Levin MD; Resch W; Alba C; Hupalo DN; Biamino E; Bedeschi MF; Digilio MC; Squeo GM; Villa R; Parrish PCR; Knutsen RH; Osgood S; Freeman JA; Dalgard CL; Merla G; Pober BR; Mervis CB; Roberts AE; Morris CA; Osborne LR; Kozel BA
J Am Heart Assoc; 2024 Feb; 13(3):e031377. PubMed ID: 38293922
[TBL] [Abstract][Full Text] [Related]
9. Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z; Michels VV; Thibodeau SN; Davis EC; Bonnefont JP; Munnich A; Eyskens B; Gewillig M; Devriendt K; Boyd CD
Hum Genet; 2000 Jun; 106(6):577-88. PubMed ID: 10942104
[TBL] [Abstract][Full Text] [Related]
10. Elastin-driven genetic diseases.
Duque Lasio ML; Kozel BA
Matrix Biol; 2018 Oct; 71-72():144-160. PubMed ID: 29501665
[TBL] [Abstract][Full Text] [Related]
11. Elastin: mutational spectrum in supravalvular aortic stenosis.
Metcalfe K; Rucka AK; Smoot L; Hofstadler G; Tuzler G; McKeown P; Siu V; Rauch A; Dean J; Dennis N; Ellis I; Reardon W; Cytrynbaum C; Osborne L; Yates JR; Read AP; Donnai D; Tassabehji M
Eur J Hum Genet; 2000 Dec; 8(12):955-63. PubMed ID: 11175284
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.
Park S; Seo EJ; Yoo HW; Kim Y
Int J Mol Med; 2006 Aug; 18(2):329-32. PubMed ID: 16820942
[TBL] [Abstract][Full Text] [Related]
13. Elastin mutation screening in a group of patients affected by vascular abnormalities.
Rodriguez-Revenga L; Badenas C; Carrió A; Milà M
Pediatr Cardiol; 2005; 26(6):827-31. PubMed ID: 15990952
[TBL] [Abstract][Full Text] [Related]
14. Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.
Hayano S; Okuno Y; Tsutsumi M; Inagaki H; Fukasawa Y; Kurahashi H; Kojima S; Takahashi Y; Kato T
Int J Cardiol; 2019 Jan; 274():290-295. PubMed ID: 30228022
[TBL] [Abstract][Full Text] [Related]
15. Emerging mechanisms of elastin transcriptional regulation.
Procknow SS; Kozel BA
Am J Physiol Cell Physiol; 2022 Sep; 323(3):C666-C677. PubMed ID: 35816641
[TBL] [Abstract][Full Text] [Related]
16. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
Huryn LA; Flaherty T; Nolen R; Prasov L; Zein WM; Cukras CA; Osgood S; Raja N; Levin MD; Vitale S; Brooks BP; Hufnagel RB; Kozel BA
Br J Ophthalmol; 2023 Oct; 107(10):1554-1559. PubMed ID: 35760456
[TBL] [Abstract][Full Text] [Related]
17. Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level.
Heinz A; Huertas AC; Schräder CU; Pankau R; Gosch A; Schmelzer CE
Am J Med Genet A; 2016 Jul; 170(7):1832-42. PubMed ID: 27311421
[TBL] [Abstract][Full Text] [Related]
18. Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.
Kiener A; Lantin MRL; Lawrence EJ; Morris SA; Sheth SS
Pediatr Cardiol; 2024 Jun; 45(5):1154-1156. PubMed ID: 38294523
[TBL] [Abstract][Full Text] [Related]
19. An investigation of voice quality in individuals with inherited elastin gene abnormalities.
Watts CR; Awan SN; Marler JA
Clin Linguist Phon; 2008 Mar; 22(3):199-213. PubMed ID: 18307085
[TBL] [Abstract][Full Text] [Related]
20. Characterization of the Zebrafish
Hoareau M; El Kholti N; Debret R; Lambert E
Cells; 2023 May; 12(10):. PubMed ID: 37408270
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]