Cargando…

STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses

Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) is an autosomal dominant immune disorder marked by wide infectious predisposition, autoimmunity, vascular disease, and malignancy. Its molecular hallmark, elevated phospho-STAT1 (pSTAT1) following interferon (IFN) stim...

Descripción completa

Detalles Bibliográficos
Autores principales:	Scott, Ori, Lindsay, Kyle, Erwood, Steven, Mollica, Antonio, Roifman, Chaim M., Cohn, Ronald D., Ivakine, Evgueni A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121859/ https://www.ncbi.nlm.nih.gov/pubmed/33990617 http://dx.doi.org/10.1038/s41525-021-00196-7

Ejemplares similares

The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice
por: Scott, Ori, et al.
Publicado: (2023)

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression
por: Ovadia, Adi, et al.
Publicado: (2018)

Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation
por: Erwood, Steven, et al.
Publicado: (2019)

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant
por: Scott, Ori, et al.
Publicado: (2022)

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
por: Sharma, Mehul, et al.
Publicado: (2023)

Activity of lumacaftor is not conserved in zebrafish Cftr bearing the major cystic fibrosis‐causing mutation
por: Laselva, Onofrio, et al.
Publicado: (2019)

Transcriptional regulation by STAT1 and STAT2 in the interferon JAK-STAT pathway
por: Au-Yeung, Nancy, et al.
Publicado: (2013)

Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing
por: Erwood, Steven, et al.
Publicado: (2020)

Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
por: Maino, Eleonora, et al.
Publicado: (2021)

Prevention of early-onset cardiomyopathy in Dmd exon 52–54 deletion mice by CRISPR-Cas9-mediated exon skipping
por: Rok, Matthew, et al.
Publicado: (2023)

Uncoupling interferons and the interferon signature explain clinical and transcriptional subsets in SLE
por: Gómez-Bañuelos, Eduardo, et al.
Publicado: (2023)

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
por: Merico, Daniele, et al.
Publicado: (2015)

A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy
por: Wong, Tatianna Wai Ying, et al.
Publicado: (2020)

An efficient and cost-effective purification protocol for Staphylococcus aureus Cas9 nuclease
por: Teng, Allen C.T., et al.
Publicado: (2022)

Hemophagocytic lymphohistiocytosis caused by STAT1 gain-of-function mutation is not driven by interferon-γ: A case report
por: Liu, Nan, et al.
Publicado: (2020)

Mild COVID-19 outcomes in adults with inborn errors of immunity: a single-center experience
por: Fuentes, Laura Abrego, et al.
Publicado: (2023)

Interferons and IRF/Stat transcription factors in the regulation of immunity, oncogenesis and bone remodeling
por: Taniguchi, T, et al.
Publicado: (2003)

STAT1 is required to establish but not maintain interferon‐γ‐induced transcriptional memory
por: Tehrani, Sahar SH, et al.
Publicado: (2023)

The regulation of inflammation by interferons and their STATs
por: Rauch, Isabella, et al.
Publicado: (2013)

Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints
por: Giovannozzi, Simone, et al.
Publicado: (2021)

Signatures of Transcription Factor Evolution and the Secondary Gain of Red Algae Complexity
por: Petroll, Romy, et al.
Publicado: (2021)

STAT3 gain-of-function syndrome
por: Vogel, Tiphanie P., et al.
Publicado: (2023)

Spatiotemporal control of interferon-induced JAK/STAT signalling and gene transcription by the retromer complex
por: Chmiest, Daniela, et al.
Publicado: (2016)

Post-transcriptional regulatory feedback encodes JAK-STAT signal memory of interferon stimulation
por: Kalliara, Eirini, et al.
Publicado: (2022)

An Interferon-Inducible Neutrophil-Driven Blood Transcriptional Signature in Human Tuberculosis
por: Berry, Matthew P. R., et al.
Publicado: (2010)

Signal Transducer and Activator of Transcription 3 (STAT3) Suppresses STAT1/Interferon Signaling Pathway and Inflammation in Senescent Preadipocytes
por: Madani, Aisha Y., et al.
Publicado: (2021)

Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition
por: Parackova, Zuzana, et al.
Publicado: (2023)

The Transcription Factor STAT-1 Couples Macrophage Synthesis of 25-Hydroxycholesterol to the Interferon Antiviral Response
por: Blanc, Mathieu, et al.
Publicado: (2013)

CDK8 Kinase Phosphorylates Transcription Factor STAT1 to Selectively Regulate the Interferon Response
por: Bancerek, Joanna, et al.
Publicado: (2013)

Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3
por: Omoyinmi, Ebun, et al.
Publicado: (2018)

Neutropenia in patients with adenosine deaminase deficiency
por: Kim, Vy HD, et al.
Publicado: (2014)

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease
por: Schultz, Mark L., et al.
Publicado: (2022)

Gain-of-function STAT1 mutation and visceral leishmaniasis
por: Lyra, Paula Teixeira, et al.
Publicado: (2022)

An Interferon-Related Signature in the Transcriptional Core Response of Human Macrophages to Mycobacterium tuberculosis Infection
por: Wu, Kang, et al.
Publicado: (2012)

Mild COVID-19 clinical course among paediatric patients with primary immunodeficiency
por: Sham, Marina, et al.
Publicado: (2023)

Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons
por: Shore, Amy N., et al.
Publicado: (2023)

Signal Transducers and Activators of Transcription-1 (STAT1) Regulates microRNA Transcription in Interferon γ-Stimulated HeLa Cells
por: Wang, Guohua, et al.
Publicado: (2010)

Activation of monocyte effector genes and STAT family transcription factors by inflammatory synovial fluid is independent of interferon gamma
Publicado: (1995)

Heterozygous Eif4nif1 Stop Gain Mice Replicate the Primary Ovarian Insufficiency Phenotype
por: Moriwaki, Mika, et al.
Publicado: (2021)

MHC class II deficiency in the Dene native population: a case report highlighting pitfalls in diagnosis and treatment
por: Lyttle, Alex, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_a98kp739nhkfs7sv1nik8ud58v