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Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene Cover

Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene

Balkan Journal of Medical Genetics
Volume 27 (2024): Issue 1 (June 2024)
By: J Visekruna,  M Basa,  T Grba,  M Andjelkovic,  S Pavlovic,  N Nathan and  A Sovtic  
Open Access
|Sep 2024

Figures & Tables

Figure 1.

Chest CT scan. A) Initial finding – consolidations, intralobular thickening and mirror ground-glass opacifications. B) A follow up CT scan six months later – bilateral consolidations with fibroindurative lesion or plate-like atelectasis, and mild septal thickening.
Chest CT scan. A) Initial finding – consolidations, intralobular thickening and mirror ground-glass opacifications. B) A follow up CT scan six months later – bilateral consolidations with fibroindurative lesion or plate-like atelectasis, and mild septal thickening.

Figure 2.

In silico analysis of the impact of the detected variant in the TERT gene. A) Schematic representation of sixteen exons in the TERT gene and marked detected loss of function variant in exon 2. B) Percentage ratio of pathogenic, likely pathogenic, VUS, and benign variants in the coding region of the TERT gene. C) Three-dimensional molecular models of TERT wild-type and mutated proteins. D) The protein-protein interaction network of TERT and interactors.
In silico analysis of the impact of the detected variant in the TERT gene. A) Schematic representation of sixteen exons in the TERT gene and marked detected loss of function variant in exon 2. B) Percentage ratio of pathogenic, likely pathogenic, VUS, and benign variants in the coding region of the TERT gene. C) Three-dimensional molecular models of TERT wild-type and mutated proteins. D) The protein-protein interaction network of TERT and interactors.
DOI: https://doi.org/10.2478/bjmg-2024-0008 | Journal eISSN: 2199-5761
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Language: English
Page range: 59 - 63
Published on: Sep 6, 2024
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
cytomegalovirus (CMV),
diffuse lung disease,
early-onset respiratory failure,
the gene variants
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2024 J Visekruna, M Basa, T Grba, M Andjelkovic, S Pavlovic, N Nathan, A Sovtic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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