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JAGN1 gene

Known as: GL009, JAGUNAL, DROSOPHILA, HOMOLOG OF, 1, jagunal homolog 1 
National Institutes of Health

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1 relation

Broader (1)

Genes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Obesity significantly alters the human sperm proteome, with potential implications for fertility
Purpose In men, obesity may lead to poor semen parameters and reduced fertility. However, the causative links between obesity and… 
2020
2020
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
BACKGROUND Neutrophils are essential innate cells to fight bacterial and fungal pathogens. Jagunal homolog 1 (JAGN1) mutations… 
2019
2019
Homozygous c.130–131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry
Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently… 
2019
2019
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia
Background: Jagunal homolog 1 (JAGN1) gene was identified as a novel responsible for severe congenital neutropenia. The protein… 
2018
2018
JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia
Mutations in the gene JAGN1 were recently discovered in patients with severe congenital neutropenia (SCN). Neutrophils release… 
Review
2018
Review
2018
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia
PurposeAdenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients… 
2016
2016
Jagn1 Is Induced in Response to ER Stress and Regulates Proinsulin Biosynthesis
The Jagn1 protein was indentified in a SILAC proteomic screen of proteins that are increased in insulinoma cells expressing a… 
Review
2015
Review
2015
Advances in basic and clinical immunology in 2014.
Highly Cited
2014
Highly Cited
2014
Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense
Neutrophils are key innate immune effector cells that are essential to fighting bacterial and fungal pathogens. Here we report… 
2013
2013
Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis
Analysis of patients with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling… 
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