Understanding Genotype-Phenotype Correlations in Patients with Mutations: New Views Inside and Outside the Box.
作者信息
Mullen Mary P
机构信息
Department of Cardiology Boston Children's Hospital Boston, Massachusetts.
Harvard Medical School Boston, Massachusetts.
出版信息
Am J Respir Crit Care Med. 2022 Dec 15;206(12):1448-1449. doi: 10.1164/rccm.202208-1461ED.
Abstract
摘要
相似文献
1
Understanding Genotype-Phenotype Correlations in Patients with Mutations: New Views Inside and Outside the Box.
Am J Respir Crit Care Med. 2022 Dec 15;206(12):1448-1449. doi: 10.1164/rccm.202208-1461ED.
2
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC.
3
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Am J Med Genet A. 2016 Sep;170(9):2440-4. doi: 10.1002/ajmg.a.37822. Epub 2016 Jul 4.
4
TBX4 variants and pulmonary diseases: getting out of the 'Box'.
Curr Opin Pulm Med. 2020 May;26(3):277-284. doi: 10.1097/MCP.0000000000000678.
5
Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.
Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1011-1019. doi: 10.1016/j.rec.2016.03.029. Epub 2016 Jul 21.
6
Neonatal Lung Disease Associated with TBX4 Mutations.
J Pediatr. 2019 Mar;206:286-292.e1. doi: 10.1016/j.jpeds.2018.10.018. Epub 2018 Nov 7.
7
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet. 2019 Dec 5;105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21.
8
Molecular Function and Contribution of in Development and Disease.
Am J Respir Crit Care Med. 2023 Apr 1;207(7):855-864. doi: 10.1164/rccm.202206-1039TR.
9
Identification and Functional Evaluation of a Novel Mutation Underlies Small Patella Syndrome.
Int J Mol Sci. 2022 Feb 14;23(4):2075. doi: 10.3390/ijms23042075.
10
Mutations in the human TBX4 gene cause small patella syndrome.
Am J Hum Genet. 2004 Jun;74(6):1239-48. doi: 10.1086/421331. Epub 2004 Apr 21.
引用本文的文献
1
Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice.
Pediatr Res. 2025 Jun 20. doi: 10.1038/s41390-025-04127-5.
2
The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.
Am J Med Genet A. 2025 Mar;197(3):e63936. doi: 10.1002/ajmg.a.63936. Epub 2024 Nov 17.
3
An interdisciplinary consensus approach to pulmonary hypertension in developmental lung disease.
Eur Respir J. 2024 Sep 26;64(3). doi: 10.1183/13993003.00639-2024. Print 2024 Sep.
4
Seeing pulmonary hypertension through a paediatric lens: a viewpoint.
Eur Respir J. 2024 Jun 20;63(6). doi: 10.1183/13993003.01518-2023. Print 2024 Jun.
5
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.
NPJ Genom Med. 2023 Mar 6;8(1):7. doi: 10.1038/s41525-023-00350-3.
本文引用的文献
1
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC.
2
New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis.
Circ Res. 2022 Apr 29;130(9):1365-1381. doi: 10.1161/CIRCRESAHA.122.320084. Epub 2022 Apr 28.
3
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.
PLoS One. 2020 Apr 29;15(4):e0232216. doi: 10.1371/journal.pone.0232216. eCollection 2020.
4
Phenotype and outcome of pulmonary arterial hypertension patients carrying a mutation.
Eur Respir J. 2020 May 14;55(5). doi: 10.1183/13993003.02340-2019. Print 2020 May.
5
Molecular genetic framework underlying pulmonary arterial hypertension.
Nat Rev Cardiol. 2020 Feb;17(2):85-95. doi: 10.1038/s41569-019-0242-x. Epub 2019 Aug 12.
6
Phenotype characterisation of mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.
Eur Respir J. 2019 Aug 22;54(2). doi: 10.1183/13993003.01965-2018. Print 2019 Aug.
7
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887.
8
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Am J Med Genet A. 2016 Sep;170(9):2440-4. doi: 10.1002/ajmg.a.37822. Epub 2016 Jul 4.
9
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16.
10
Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system.
PLoS Genet. 2012;8(8):e1002866. doi: 10.1371/journal.pgen.1002866. Epub 2012 Aug 2.
Zotero 插件