
ULTRA-EARLY DIFFUSE LUNG DISEASE IN AN INFANT WITH PATHOGENIC VARIANT IN TELOMERASE REVERSE TRANSCRIPTASE (TERT) GENE Visekruna J, Basa M, Grba T, Andjelkovic M, Pavlovic S, Nathan N, Sovtic A *Corresponding Author: Ass. Prof. Aleksandar Sovtic, Department of Pulmonology, Mother and Child
Health Institute of Serbia, Belgrade, Serbia, School of Medicine, University of Belgrade, Serbia;
Email: aleksandar.sovtic@med.bg.ac.rs; Address: 6 Radoja Dakica, 11070 Belgrade, Serbia; Phone: +381 11 3108 158 page: 59
|
REFERENCES
1. Spagnolo P, Bush A. Interstitial Lung Disease in
Children Younger Than 2 Years. Pediatrics. 2016
Jun;137(6):e20152725.doi: 10.1542/peds.2015-2725.
PMID: 27245831.
2. Kurland G, Deterding RR, Hagood JS, et al. An of-
ficial American Thoracic Society clinical practice
guideline: classification, evaluation, and manage-
ment of childhood interstitial lung disease in infancy.
Am J Respir Crit Care Med. 2013 Aug 1;188(3):376–
94.doi: 10.1164/rccm.201305-0923ST. PMID:
23905526.
3. Antoniou KM, Margaritopoulos GA, Tomassetti S, et
al. Interstitial lung disease. Eur Respir Rev. 2014 Mar
1;23(131):40-54. doi: 10.1183/09059180.00009113.
PMID: 24591661.
4. Turner KJ, Vasu V, Griffin DK. Telomere Biology and
Human Phenotype. Cells. 2019 Jan 19;8(1):E73.5.doi:
10.3390/cells8010073. PMID: 30669451.
5. Watkins TBK, Lim EL, Petkovic M, et al. Pervasive
chromosomal instability and karyotype order in tu-
mour evolution. Nature. 2020 Nov;587(7832):126–
32. doi: 10.1038/s41586-020-2698-6. Epub 2020 Sep
2. PMID: 32879494.
6. Srinivas N, Rachakonda S, Kumar R. Telomeres and
Telomere Length: A General Overview. Cancers. 2020
Feb 28;12(3):E558. doi: 10.3390/cancers12030558.
PMID: 32121056.
7. Ellard S, Baple E, Callaway A, et al. ACGS best
practice guidelines for variant classification in rare
disease 2020. 2020. Available from: Retrieved from
https://www acgs uk com/media/11631/uk-practice-
guidelines-for-variant-classificationv4-01-2020 pdf.
8. Arora A, Singh R, Dogra M. Bilateral cytomegalovirus
retinitis as the presenting feature of Dyskeratosis Con-
genita. Eur J Ophthalmol. 2023 May;33(3):NP122–5.
doi: 10.1177/11206721221086154. Epub 2022 Mar
4. PMID: 35243907.
9. Arish N, Petukhov D, Wallach-Dayan SB. The Role
of Telomerase and Telomeres in Interstitial Lung Dis-
eases: From Molecules to Clinical Implications. Int
J Mol Sci. 2019 Jun 19;20(12):E2996.doi: 10.3390/
ijms20122996. PMID: 31248154.
10. Popescu I, Mannem H, Winters SA, et al. Impaired
Cytomegalovirus Immunity in Idiopathic Pulmo-
nary Fibrosis Lung Transplant Recipients with
Short Telomeres. Am J Respir Crit Care Med. 2019
Feb 1;199(3):362–76.doi: 10.1164/rccm.201805-
0825OC. PMID: 30088779.
11. Huang WJ, Tang XX. Virus infection induced pulmo-
nary fibrosis. J Transl Med. 2021Dec 7;19:496. doi:
10.1186/s12967-021-03159-9. PMID: 34876129
12. Van der Vis JJ, van der Smagt JJ, Hennekam FAM, et
al. Pulmonary Fibrosis and a TERT Founder Muta-
tion with a Latency Period of 300 Years. Chest. 2020
Aug;158(2):612–9.doi: 10.1016/j.chest.2020.03.069.
Epub 2020 Apr 19. PMID: 32315675.
13. Sousa SR, Caetano Mota P, Melo N, et al. Heterozy-
gous TERT gene mutation associated with familial
idiopathic pulmonary fibrosis. Respir Med Case Rep.
2019;26:118–22.doi: 10.1016/j.rmcr.2018.12.005.
PMID: 30603600.
14. TERT | Gene [Internet]. [cited 2023 Sep 14]. Available
from:https://varsome.com/gene/hg19/TERT
15. Zaug AJ, Crary SM, Jesse Fioravanti M, et al.
Many disease-associated variants of hTERT retain
high telomerase enzymatic activity. Nucleic Acids
Res. 2013 Oct;41(19):8969-78. doi: 10.1093/nar/
gkt653. Epub 2013 Jul 30. PMID: 23901009; PM-
CID: PMC3799428.
|
|
|
|



 |
Number 27 VOL. 27 (2), 2024 |
Number 27 VOL. 27 (1), 2024 |
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|