Genetic disorders influencing lung formation and function at birth - PubMed (original) (raw)
Review
. 2004 Oct 1:13 Spec No 2:R207-15.
doi: 10.1093/hmg/ddh252.
Affiliations
- PMID: 15358727
- DOI: 10.1093/hmg/ddh252
Review
Genetic disorders influencing lung formation and function at birth
Jeffrey A Whitsett et al. Hum Mol Genet. 2004.
Abstract
Adaptation to air breathing at birth is dependent on formation and function of the lung. Lung morphogenesis is a complex process dependent on precise temporal-spatial control of cell proliferation, differentiation and behavior mediated by autocrine-paracrine signaling that instructs transcriptional processes during organogenesis. Mutations in genes causing severe, and often lethal, lung malformations include those in the sonic hedgehog, fibroblast growth factor and thyroid transcription factor-1 pathways. Mutations in genes regulating surfactant homeostasis, necessary for reduction of surface tension in the alveoli, cause lethal respiratory distress at birth or interstitial lung disease in childhood. Inherited disorders of the surfactant system that affect neonatal respiratory adaptation at birth include hereditary surfactant protein B deficiency, mutations in surfactant protein C and the ABCA3 transporter.
Similar articles
- Inherited disorders of neonatal lung diseases.
Yurdakök M. Yurdakök M. Turk J Pediatr. 2004 Apr-Jun;46(2):105-14. Turk J Pediatr. 2004. PMID: 15214737 Review. - C/EBPalpha is required for lung maturation at birth.
Martis PC, Whitsett JA, Xu Y, Perl AK, Wan H, Ikegami M. Martis PC, et al. Development. 2006 Mar;133(6):1155-64. doi: 10.1242/dev.02273. Epub 2006 Feb 8. Development. 2006. PMID: 16467360 - Transcriptional control of lung morphogenesis.
Maeda Y, Davé V, Whitsett JA. Maeda Y, et al. Physiol Rev. 2007 Jan;87(1):219-44. doi: 10.1152/physrev.00028.2006. Physiol Rev. 2007. PMID: 17237346 Review. - Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation.
Hamvas A. Hamvas A. Semin Perinatol. 2006 Dec;30(6):316-26. doi: 10.1053/j.semperi.2005.11.002. Semin Perinatol. 2006. PMID: 17142157 Review. - The surfactant system protects both fetus and newborn.
Hallman M. Hallman M. Neonatology. 2013;103(4):320-6. doi: 10.1159/000349994. Epub 2013 May 31. Neonatology. 2013. PMID: 23736009 Review.
Cited by
- Hippo-Foxa2 signaling pathway plays a role in peripheral lung maturation and surfactant homeostasis.
Chung C, Kim T, Kim M, Kim M, Song H, Kim TS, Seo E, Lee SH, Kim H, Kim SK, Yoo G, Lee DH, Hwang DS, Kinashi T, Kim JM, Lim DS. Chung C, et al. Proc Natl Acad Sci U S A. 2013 May 7;110(19):7732-7. doi: 10.1073/pnas.1220603110. Epub 2013 Apr 25. Proc Natl Acad Sci U S A. 2013. PMID: 23620511 Free PMC article. - Antenatally diagnosed lung malformations: a plea for long-term outcome studies.
Choudhry M, Drake D. Choudhry M, et al. Pediatr Surg Int. 2015 May;31(5):439-44. doi: 10.1007/s00383-014-3654-z. Epub 2015 Jan 4. Pediatr Surg Int. 2015. PMID: 25556419 Review. - The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis.
Yates LL, Schnatwinkel C, Murdoch JN, Bogani D, Formstone CJ, Townsend S, Greenfield A, Niswander LA, Dean CH. Yates LL, et al. Hum Mol Genet. 2010 Jun 1;19(11):2251-67. doi: 10.1093/hmg/ddq104. Epub 2010 Mar 10. Hum Mol Genet. 2010. PMID: 20223754 Free PMC article. - An overview of pulmonary surfactant in the neonate: genetics, metabolism, and the role of surfactant in health and disease.
Nkadi PO, Merritt TA, Pillers DA. Nkadi PO, et al. Mol Genet Metab. 2009 Jun;97(2):95-101. doi: 10.1016/j.ymgme.2009.01.015. Epub 2009 Feb 4. Mol Genet Metab. 2009. PMID: 19299177 Free PMC article. Review. - A standardized blood test for the routine clinical diagnosis of impaired GM-CSF signaling using flow cytometry.
Kusakabe Y, Uchida K, Hiruma T, Suzuki Y, Totsu T, Suzuki T, Carey BC, Yamada Y, Trapnell BC. Kusakabe Y, et al. J Immunol Methods. 2014 Nov;413:1-11. doi: 10.1016/j.jim.2014.07.009. Epub 2014 Jul 26. J Immunol Methods. 2014. PMID: 25068538 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
- HL38859/HL/NHLBI NIH HHS/United States
- HL56387/HL/NHLBI NIH HHS/United States
- HL60549/HL/NHLBI NIH HHS/United States
- HL71832/HL/NHLBI NIH HHS/United States
- U54 RR19498/RR/NCRR NIH HHS/United States
LinkOut - more resources
Full Text Sources