Associated Papers
A rare case of Yersinia pseudotuberculosis liver abscess and bacteremia in a heterozygous carrier of HFE1 H63D and MPEG1 mutations in Turkiye.
Ozarslan MA et al.
Hepatology Forum, 2025
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy.
Merselis LC et al.
Frontiers in Immunology, 2020
The cryo-EM structure of the acid activatable pore-forming immune effector Macrophage-expressed gene 1.
Pang SS et al.
Nature Communications, 2019
Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.
Nikolic A
Lung, 2018
MPEG1/perforin-2 mutations in human pulmonary nontuberculous mycobacterial infections.
McCormack RM et al.
Jci Insight, 2017
Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.
Szymanski EP et al.
American Journal of Respiratory and Critical Care Medicine, 2015
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