Rare-variant collapsing analyses identified risk genes for neonatal acute respiratory distress syndrome

Computational and Structural Biotechnology Journal - Tập 20 - Trang 5047-5053 - 2022
Huiyao Chen1, Xiang Chen2, Liyuan Hu2, Chang Ye2, Jiantao Zhang2, Guoqiang Cheng2, Lin Yang1,3, Yulan Lu4, Xinran Dong4, Wenhao Zhou1,2,4
1Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China
2Departments of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China
3Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children’s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China
4Center for Molecular Medicine, Children’s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China

Tài liệu tham khảo

De Luca, 2022, Epidemiology of Neonatal Acute Respiratory Distress Syndrome: Prospective, Multicenter, International Cohort Study, Pediatr Crit Care Med, 23, 524, 10.1097/PCC.0000000000002961

De Luca, 2017, The Montreux definition of neonatal ARDS: biological and clinical background behind the description of a new entity, Lancet Respir Med, 5, 657, 10.1016/S2213-2600(17)30214-X

De Luca, 2021, Surfactant therapies for pediatric and neonatal ARDS: ESPNIC expert consensus opinion for future research steps, Crit Care, 25, 75, 10.1186/s13054-021-03489-6

Manti, 2020, Respiratory syncytial virus seropositivity at birth is associated with adverse neonatal respiratory outcomes, Pediatr Pulmonol, 55, 3074, 10.1002/ppul.25001

You, 2022, Risk Factors and Clinical Characteristics of Neonatal Acute Respiratory Distress Syndrome Caused by Early Onset Sepsis, Front Pediatr, 10, 10.3389/fped.2022.847827

Hallman, 2013, The surfactant system protects both fetus and newborn, Neonatology, 103, 320, 10.1159/000349994

Somaschini, 2018, Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome, J Perinatol, 38, 337, 10.1038/s41372-017-0018-2

Wang, 2021, ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants, Transl Pediatr, 10, 350, 10.21037/tp-20-283

Barilli, 2010, In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages, Orphanet J Rare Dis, 26, 32, 10.1186/1750-1172-5-32

Kalinichenko, 2001, Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor, Dev Biol, 235, 489, 10.1006/dbio.2001.0322

Boggaram, 2009, Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung, Clin Sci (Lond), 116, 27, 10.1042/CS20080068

Hilgendorff, 2009, Association of polymorphisms in the human surfactant protein-D (SFTPD) gene and postnatal pulmonary adaptation in the preterm infant, Acta Paediatr, 98, 112, 10.1111/j.1651-2227.2008.01014.x

Shen, 2020, Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of Neonatal Respiratory Distress Syndrome among a Chinese Han Population, Pediatr Neonatol, 61, 318, 10.1016/j.pedneo.2019.12.012

Demircubuk, 2013, Endothelial NOS gene Glu298Asp polymorphism in preterm neonates with respiratory distress syndrome, Pediatr Pulmonol, 48, 976, 10.1002/ppul.22759

Ambalavanan, 2015, Integrated genomic analyses in bronchopulmonary dysplasia, J Pediatr, 166, 531, 10.1016/j.jpeds.2014.09.052

Li, 2015, Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome, Sci Rep, 27, 17317, 10.1038/srep17317

Chang, 2016, Genetic Polymorphisms of SP-A, SP-B, and SP-D and Risk of Respiratory Distress Syndrome in Preterm Neonates, Med Sci Monit, 24, 5091, 10.12659/MSM.898553

Gudmundsson, 2012, A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer, Nat Genet, 44, 1326, 10.1038/ng.2437

Gibson, 2012, Rare and common variants: twenty arguments, Nat Rev Genet, 13, 135, 10.1038/nrg3118

Hu, 2018, Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience, Genet Med, 20, 1045, 10.1038/gim.2017.195

Whitsett, 2015, Diseases of pulmonary surfactant homeostasis, Annu Rev Pathol, 10, 371, 10.1146/annurev-pathol-012513-104644

Bartman, 2020, It's about time: clocks in the developing lung, J Clin Invest, 130, 39, 10.1172/JCI130143

Wong, 2017, Establishing the entity of neonatal acute respiratory distress syndrome, J Thorac Dis, 9, 4244, 10.21037/jtd.2017.10.64

Thompson, 2017, Acute Respiratory Distress Syndrome, N Engl J Med, 377, 562, 10.1056/NEJMra1608077

Kho, 2010, Transcriptomic analysis of human lung development, Am J Respir Crit Care Med, 181, 54, 10.1164/rccm.200907-1063OC

Lee, 2005, Nitric oxide decreases surfactant protein gene expression in primary cultures of type II pneumocytes, Am J Physiol Lung Cell Mol Physiol, 288, L950, 10.1152/ajplung.00210.2004

Sever N, Milicic G, Bodnar NO, Wu X, Rapoport TA. Mechanism of Lamellar Body Formation by Lung Surfactant Protein B. Mol Cell. 2021 Jan 7;81(1):49-66 e8.

Hu, 2020, Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants, Hum Mutat, 41, 1298, 10.1002/humu.24014

Yu, 2020, Toxic effects of perinatal maternal exposure to nonylphenol on lung inflammation in male offspring rats, Sci Total Environ, 1

Amiel, 1996, Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease, Hum Mol Genet, 5, 355, 10.1093/hmg/5.3.355

Shulenin, 2004, ABCA3 gene mutations in newborns with fatal surfactant deficiency, N Engl J Med, 350, 1296, 10.1056/NEJMoa032178

Carrera, 2015, Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study, Clin Chim Acta, 451, 39, 10.1016/j.cca.2015.01.001

Li, 2015, Exome Sequencing of Neonatal Blood Spots and the Identification of Genes Implicated in Bronchopulmonary Dysplasia, Am J Respir Crit Care Med, 192, 589, 10.1164/rccm.201501-0168OC

Hamvas, 2018, Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth, BMC Genet, 19, 94, 10.1186/s12863-018-0679-7

Bozkurt, 2021, Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency, Turk J Pediatr, 63, 703, 10.24953/turkjped.2021.04.019

Barabasi, 2011, Network medicine: a network-based approach to human disease, Nat Rev Genet, 12, 56, 10.1038/nrg2918

Lachmann, 2010, Lists2Networks: integrated analysis of gene/protein lists, BMC Bioinf, 12, 87, 10.1186/1471-2105-11-87

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Computational and Structural Biotechnology Journal

Tập 20

5047-5053

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