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Genetic testing for rare pediatric lung disorders: The promise and the pitfalls.

作者信息

Nogee Lawrence M

机构信息

Eudowood Division of Neonatology Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USA.

出版信息

Pediatr Investig. 2020 Mar 17;4(1):59-60. doi: 10.1002/ped4.12179. eCollection 2020 Mar.

Abstract
摘要

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本文引用的文献

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Surfactant protein C dysfunction with new clinical insights for diffuse alveolar hemorrhage and autoimmunity.
Pediatr Investig. 2019 Dec 21;3(4):201-206. doi: 10.1002/ped4.12162. eCollection 2019 Dec.
2
LRBA deficiency: a new genetic cause of monogenic lupus.
Ann Rheum Dis. 2020 Mar;79(3):427-428. doi: 10.1136/annrheumdis-2019-216410. Epub 2019 Dec 18.
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Genetic causes of surfactant protein abnormalities.
Curr Opin Pediatr. 2019 Jun;31(3):330-339. doi: 10.1097/MOP.0000000000000751.
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Genetic basis of surfactant dysfunction in Chinese children: A retrospective study.
Pediatr Pulmonol. 2019 Aug;54(8):1173-1181. doi: 10.1002/ppul.24334. Epub 2019 May 12.
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Expression of mutant Sftpc in murine alveolar epithelia drives spontaneous lung fibrosis.
J Clin Invest. 2018 Aug 31;128(9):4008-4024. doi: 10.1172/JCI99287. Epub 2018 Aug 13.
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Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Eur Respir J. 2015 Jul;46(1):197-206. doi: 10.1183/09031936.00129414. Epub 2015 Feb 5.
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A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy.
Am J Physiol Lung Cell Mol Physiol. 2015 Jan 1;308(1):L33-47. doi: 10.1152/ajplung.00217.2014. Epub 2014 Oct 24.
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Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.
N Engl J Med. 2014 Aug 14;371(7):593-6. doi: 10.1056/NEJMp1400788.
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

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