Article
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.
Respiration; international review of thoracic diseases - 1 Jan 2022
Manali Effrosyni D, Kannengiesser Caroline, Borie Raphael, Ba Ibrahima, Bouros Demosthenes, Markopoulou Aikaterini, Antoniou Katerina, Kolilekas Lykourgos, Papaioannou Andriana I, Tzilas Vasileios, Tzouvelekis Argyrios, Daniil Zoe, Fouka Evangelia, Papakosta Despoina, Xyfteri Areti, Karakatsani Anna, Loukides Stylianos, Korbila Ioanna, Tomos Ioannis P, Konstantinidis Athanasios K, Gogali Athina, Steiropoulos Paschalis, Papanikolaou Ilias C, Bazaka Chrysa, Haritou Aggeliki, Vassilakopoulos Theodoros, Maniati Maria, Kagouridis Konstantinos, Markozannes Evangelos, Bouros Evangelos, Rampiadou Christina, Kounti Georgia, Trachalaki Athina, Dimeas Ilias, Karampitsakos Theodoros, Lyberopoulos Panagiotis, Malamadakis Nikolaos, Spyropoulou Sofia, Revy Patrick, Lainey Elodie, Dieudé Philippe, Rebah Khedidja, Ménard Christelle, Oudin Claire, Masson Cécile, Plessier Aurélie, Legendre Marie, Nathan Nadia, Coulomb-L'Hermine Aurore, Clement Annick, Amselem Serge, Boileau Catherine, Crestani Bruno, Papiris Spyros
Abstract excerpt
BACKGROUND: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide polymorphism in the promoter of MUC5B gene encoding mucin 5B (rs35705950 T risk allele) are reported. This French-Greek collaborative study, Gen-Phen-Re-GreekS in inheritable IPF (iIPF), aimed to...
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