Associated Papers
Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.
Fekadu-Siebald J et al.
Blood Advances, 2025
G-CSF resistance of ELANE-mutant neutropenia depends on SERF1-containing truncated-neutrophil elastase aggregates.
Nayak RC et al.
The Journal of Clinical Investigation, 2024
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
JAGN1 mutation with distinct clinical features; two case reports and literature review.
Hojabri M et al.
Bmc Pediatrics, 2023
The ATP Synthase Deficiency in Human Diseases.
Galber C et al.
Life (basel, Switzerland), 2021
Neutrophil Elastase Defects in Congenital Neutropenia.
Rydzynska Z et al.
Frontiers in Immunology, 2021
Variability in genes related to SARS-CoV-2 entry into host cells (ACE2, TMPRSS2, TMPRSS11A, ELANE, and CTSL) and its potential use in association studies.
Vargas-Alarcón G et al.
Life Sciences, 2020
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Gauthier-Vasserot A et al.
American Journal of Medical Genetics. Part A, 2017
Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.
Tidwell T et al.
Blood, 2014
Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis.
Grenda DS et al.
Blood, 2002
The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil.
Felisbino MB et al.
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0
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