Cargando…

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

Detalles Bibliográficos
Autores principales:	Smith, Colin, McColl, Barry W., Patir, Anirudh, Barrington, Jack, Armishaw, Jeremy, Clarke, Antonia, Eaton, Jenny, Hobbs, Vivienne, Mansour, Sahar, Nolan, Melinda, Rice, Gillian I., Rodero, Mathieu P., Seabra, Luis, Uggenti, Carolina, Livingston, John H., Bridges, Leslie R., Jeffrey, Iona J. M., Crow, Yanick J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2020
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181551/ https://www.ncbi.nlm.nih.gov/pubmed/32100099 http://dx.doi.org/10.1007/s00401-020-02137-7

Ejemplares similares

Clinical non-penetrance associated with biallelic mutations in the RNase H2 complex
por: Crow, Yanick J
Publicado: (2023)

Myeloid Cell and Transcriptome Signatures Associated With Inflammation Resolution in a Model of Self-Limiting Acute Brain Inflammation
por: Davies, Claire L., et al.
Publicado: (2019)

CSF1R Related Leukoencephalopathy - Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!
por: Sriram, Neeharika, et al.
Publicado: (2022)

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview
por: Rodero, Mathieu P., et al.
Publicado: (2016)

NRROS Negatively Regulates Osteoclast Differentiation by Inhibiting RANKL-Mediated NF-κB and Reactive Oxygen Species Pathways
por: Kim, Jung Ha, et al.
Publicado: (2015)

Deletion of Socs3 in LysM(+) cells and Cx3cr1 resulted in age-dependent development of retinal microgliopathy
por: Du, Xuan, et al.
Publicado: (2021)

Development and Validation of an Ultrasensitive Single Molecule Array Digital Enzyme-linked Immunosorbent Assay for Human Interferon-α
por: Llibre, Alba, et al.
Publicado: (2018)

Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
por: Li, Xin, et al.
Publicado: (2023)

Familial Blau syndrome: First molecularly confirmed report from India
por: Janarthanan, Mahesh, et al.
Publicado: (2019)

The type I interferonopathies: 10 years on
por: Crow, Yanick J., et al.
Publicado: (2021)

Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease
por: Lepelley, Alice, et al.
Publicado: (2021)

Synthetic α-Conotoxin Mutants as Probes for Studying Nicotinic Acetylcholine Receptors and in the Development of Novel Drug Leads
por: Armishaw, Christopher J.
Publicado: (2010)

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome
por: Acharya, Tanvi, et al.
Publicado: (2021)

Biallelic Germline Transcription at the κ Immunoglobulin Locus
por: Singh, Nandita, et al.
Publicado: (2003)

Biallelic Mismatch Repair Deficiency in an Adolescent Female
por: Hildreth, Amber, et al.
Publicado: (2018)

Biallelic mutations in UGDH cause congenital microcephaly
por: Shu, Li, et al.
Publicado: (2023)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Dental malformations associated with biallelic MMP20 mutations
por: Wang, Shih‐Kai, et al.
Publicado: (2020)

Retinitis Pigmentosa Due to Rp1 Biallelic Variants
por: Silva, Rita Sousa, et al.
Publicado: (2020)

Biallelic loss of GNAS in a patient with pediatric medulloblastoma
por: Tokita, Mari J., et al.
Publicado: (2019)

Biallelic IARS2 mutations presenting as sideroblastic anemia
por: Barcia, Giulia, et al.
Publicado: (2021)

Fatal systemic disorder caused by biallelic variants in FARSA
por: Kim, Soo Yeon, et al.
Publicado: (2022)

Mono- and biallelic variant effects on disease at biobank scale
por: Heyne, H. O., et al.
Publicado: (2023)

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease
por: Rice, Gillian I., et al.
Publicado: (2016)

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS
por: Gratia, Matthieu, et al.
Publicado: (2019)

Imputation reliability on DNA biallelic markers for drug metabolism studies
por: Mijatovic, Vladan, et al.
Publicado: (2012)

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
por: Eletto, Davide, et al.
Publicado: (2016)

Biallelic variants in KIF14 cause intellectual disability with microcephaly
por: Makrythanasis, Periklis, et al.
Publicado: (2018)

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)
por: Mahroo, Omar A., et al.
Publicado: (2019)

Biallelic TOR1A variants in an infant with severe arthrogryposis
por: Reichert, Sara Chadwick, et al.
Publicado: (2017)

Congenital immobility and stiffness related to biallelic ATAD1 variants
por: Bunod, Roxane, et al.
Publicado: (2020)

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
por: Seo, Jieun, et al.
Publicado: (2020)

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
por: Efthymiou, Stephanie, et al.
Publicado: (2019)

Biallelic variants in DNA2 cause microcephalic primordial dwarfism
por: Tarnauskaitė, Žygimantė, et al.
Publicado: (2019)

Detection of new biallelic polymorphisms in the human MxA gene
por: Duc, Tam Tran Thi, et al.
Publicado: (2012)

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy
por: Schultz-Rogers, Laura, et al.
Publicado: (2019)

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum
por: Riva, Antonella, et al.
Publicado: (2021)

Biallelic mutations in cancer genomes reveal local mutational determinants
por: Demeulemeester, Jonas, et al.
Publicado: (2022)

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy
por: Calame, Daniel G., et al.
Publicado: (2021)

Variable skeletal phenotypes associated with biallelic variants in PRKG2
por: Pagnamenta, Alistair T, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_4109fbf7n19980ee2ruu361a2f