Cargando…

P02-025 - Homozygous Q705K sequence variant in NLRP3

Detalles Bibliográficos
Autores principales:	Berg, S, Sundqvist, M, Christenson, K, Welin, A, Björnsdottir, H, Bylund, J, Wekell, P, Söderkvist, P, Karlsson, A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Meeting Abstract
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953098/ http://dx.doi.org/10.1186/1546-0096-11-S1-A132

Ejemplares similares

MPO deficiency confers impaired processing of neutrophil reactive oxygen species in a patient with severe CRMO
por: Berg, S, et al.
Publicado: (2015)

Challenging the opinion that SAPHO syndrome is associated with low intracellular ROS production in neutrophils
por: Wekell, P, et al.
Publicado: (2015)

Neutrophils from patients with SAPHO syndrome show no signs of aberrant NADPH oxidase-dependent production of intracellular reactive oxygen species
por: Wekell, Per, et al.
Publicado: (2016)

PW02-025 - Programme necrosis by CAPS-associated NLRP3
por: Satoh, T, et al.
Publicado: (2013)

PW03-005 - NLRP3-Q705K monocytes do not produce more IL-1B
por: Simon, G, et al.
Publicado: (2013)

Severe chronic non-bacterial osteomyelitis in combination with total MPO deficiency and responsiveness to TNFα inhibition
por: Sundqvist, Martina, et al.
Publicado: (2023)

The Q705K Polymorphism in NLRP3 Is a Gain-of-Function Alteration Leading to Excessive Interleukin-1β and IL-18 Production
por: Verma, Deepti, et al.
Publicado: (2012)

PW03-003 – Altered neutrophil function in PFAPA
por: Sundqvist, M, et al.
Publicado: (2013)

Severe chronic non-bacterial osteomyelitis associated with MPO deficiency
por: Berg, Stefan, et al.
Publicado: (2014)

P02-031 - Phenotype of V198M and Q703K NLRP3 variants
por: Messia, V, et al.
Publicado: (2013)

Single nucleotide polymorphism of NLRP3 (Q705K) In juvenile spondyloarthritis and oligo/ polyarticular juvenile idiopathic arthritis
por: Perica, Marija, et al.
Publicado: (2014)

PW02-030 - Clinical phenotype in individuals with Q703K
por: Rowczenio, DM, et al.
Publicado: (2013)

PW02-040 - Low-penetrance NLRP3 variants
por: Endres, T, et al.
Publicado: (2013)

The Human Neutrophil Subsets Defined by the Presence or Absence of OLFM4 Both Transmigrate into Tissue In Vivo and Give Rise to Distinct NETs In Vitro
por: Welin, Amanda, et al.
Publicado: (2013)

PW02-034 - NLRP3 mosaicism detection in CAPS using NGS
por: Stoffels, M, et al.
Publicado: (2013)

Quantification of heterotypic granule fusion in human neutrophils by imaging flow cytometry
por: Björnsdottir, Halla, et al.
Publicado: (2015)

PW02-032 - CNS manifestations and NLRP3/CIAS1 gene mutations
por: Kümpfel, T, et al.
Publicado: (2013)

PW02-026 - Low frequency variants of NLRP3 in CAPS patients
por: Lesche, M, et al.
Publicado: (2013)

Elevated Mitochondrial Reactive Oxygen Species and Cellular Redox Imbalance in Human NADPH-Oxidase-Deficient Phagocytes
por: Sundqvist, Martina, et al.
Publicado: (2017)

PW01-004 – The sequence analysis in E148Q homozygous patients
por: Topaloglu, R, et al.
Publicado: (2013)

P02-023 - NLRP3 mosaicism as a cause of late-onset CAPS
por: Zhou, Q, et al.
Publicado: (2013)

P02-024 - Clinical impact of V198M mutation in NLRP3 gene
por: Caorsi, R, et al.
Publicado: (2013)

PW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patients
por: Berdeli, A, et al.
Publicado: (2013)

PW01-025 – Definition of colchicine resistance in FMF
por: Demirkaya, E, et al.
Publicado: (2013)

P03-025 – Differential diagnosis of autoimmune disorders
por: Kozlova, A, et al.
Publicado: (2013)

Phenol-Soluble Modulin α Peptide Toxins from Aggressive Staphylococcus aureus Induce Rapid Formation of Neutrophil Extracellular Traps through a Reactive Oxygen Species-Independent Pathway
por: Björnsdottir, Halla, et al.
Publicado: (2017)

Human Gene Variants Linked to Enhanced NLRP3 Activity Limit Intramacrophage Growth of Mycobacterium tuberculosis
por: Eklund, Daniel, et al.
Publicado: (2014)

P01-025 – Decreased vitamin D levels in children with FMF
por: Makay, B, et al.
Publicado: (2013)

An evaluation of the Hitachi 705 analyser
por: Ferré, C., et al.
Publicado: (1984)

PW03-025 - Procaspase-1 contributes to inflammation via NF-KB
por: Heymann, M, et al.
Publicado: (2013)

Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
por: Brown, Kelly L, et al.
Publicado: (2010)

A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function
por: Sanchez Klose, Felix P., et al.
Publicado: (2021)

Novel splice-site variants c.393G>A, c.278_2A>G in exon 2 and Q705K variant in exon 3 of NLRP3 gene are associated with bipolar I disorder
por: Öztürk, Kuyaş Hekimler, et al.
Publicado: (2022)

Dalcetrapib: JTT 705; JTT-705; R 1658; R1658; RG1658; RO 4607381; RO4607381
Publicado: (2012)

Efficacy of Favipiravir (T-705) in Rabies Postexposure Prophylaxis
por: Yamada, Kentaro, et al.
Publicado: (2016)

P02-030 - Unusual CNS manifestation
por: Schuh, E, et al.
Publicado: (2013)

The Q705K and F359L Single-Nucleotide Polymorphisms of NOD-Like Receptor Signaling Pathway: Association with Chronic Pancreatitis, Pancreatic Cancer, and Periodontitis
por: Miskiewicz, Andrzej, et al.
Publicado: (2015)

From uncertainty to gradually managing and awaiting recovery of a periodic condition- a qualitative study of parents´ experiences of PFAPA syndrome
por: Sparud-Lundin, C., et al.
Publicado: (2019)

PW02-031 - Genetic and clinical manifestations of CAPS
por: Bybee, AK, et al.
Publicado: (2013)

Breast cancer and hormone replacement therapy (HRT): collaborative reanalysis of data from 51 epidemiological studies of 52,705 women with breast cancer and 108,411 women without breast cancer
por: Beral, V
Publicado: (2002)

Cannot write session to /tmp/vufind_sessions/sess_kmc5glijcsfmm5edt9lso2i12p