Cargando…

A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation

NF-κB signaling, acting through NFKB1 dependent canonical and NFKB2 dependent non-canonical pathways plays a critical role in inflammatory and immune responses. Recent studies have associated mutations in these two genes with a common variable immunodeficiency (CVID). While evaluating a female patie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kotlinowski, Jerzy, Bukowska-Strakova, Karolina, Koppolu, Agnieszka, Kosińska, Joanna, Pydyn, Natalia, Stawinski, Piotr, Wilamowski, Mateusz, Nowak, Witold, Józkowicz, Alicja, Baran, Jarosław, Płoski, Rafał, Jura, Jolanta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399389/ https://www.ncbi.nlm.nih.gov/pubmed/30863427 http://dx.doi.org/10.3389/fgene.2019.00140

Ejemplares similares

Selected transgenic murine models of human autoimmune liver diseases
por: Trzos, Katarzyna, et al.
Publicado: (2022)

PPAR Gamma and Angiogenesis: Endothelial Cells Perspective
por: Kotlinowski, Jerzy, et al.
Publicado: (2016)

Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1
por: Schröder, Claudia, et al.
Publicado: (2019)

Role of Mcpip1 in obesity‐induced hepatic steatosis as determined by myeloid and liver‐specific conditional knockouts
por: Pydyn, Natalia, et al.
Publicado: (2021)

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability
por: Rzońca-Niewczas, Sylwia, et al.
Publicado: (2021)

Fatty Acids and a High-Fat Diet Induce Epithelial–Mesenchymal Transition by Activating TGFβ and β-Catenin in Liver Cells
por: Kwapisz, Oliwia, et al.
Publicado: (2021)

Long Noncoding RNAs in Metabolic Syndrome Related Disorders
por: Losko, Magdalena, et al.
Publicado: (2016)

Murine Bone Marrow Lin(−)Sca-1(+)CD45(−) Very Small Embryonic-Like (VSEL) Cells Are Heterogeneous Population Lacking Oct-4A Expression
por: Szade, Krzysztof, et al.
Publicado: (2013)

Hepatic MCPIP1 protein levels are reduced in NAFLD patients and are predominantly expressed in cholangiocytes and liver endothelium
por: Pydyn, Natalia, et al.
Publicado: (2023)

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
por: Szczałuba, Krzysztof, et al.
Publicado: (2020)

Number of circulating pro‐angiogenic cells, growth factor and anti‐oxidative gene profiles might be altered in type 2 diabetes with and without diabetic foot syndrome
por: Nowak, Witold N, et al.
Publicado: (2014)

Various roles of heme oxygenase-1 in response of bone marrow macrophages to RANKL and in the early stage of osteoclastogenesis
por: Florczyk-Soluch, Urszula, et al.
Publicado: (2018)

TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
por: Sodsai, Pimpayao, et al.
Publicado: (2022)

The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)
por: Dawidziuk, Mateusz, et al.
Publicado: (2021)

Slow-cycling murine melanoma cells display plasticity and enhanced tumorigenicity in syngeneic transplantation assay
por: Kusienicka, Anna, et al.
Publicado: (2022)

Clock and clock-controlled genes are differently expressed in the retina, lamina and in selected cells of the visual system of Drosophila melanogaster
por: Damulewicz, Milena, et al.
Publicado: (2015)

Myoblast-conditioned media improve regeneration and revascularization of ischemic muscles in diabetic mice
por: Kozakowska, Magdalena, et al.
Publicado: (2015)

Activity of MCPIP1 RNase in tumor associated processes
por: Miekus, Katarzyna, et al.
Publicado: (2019)

Role of HMOX1 Promoter Genetic Variants in Chemoresistance and Chemotherapy Induced Neutropenia in Children with Acute Lymphoblastic Leukemia
por: Bukowska-Strakova, Karolina, et al.
Publicado: (2021)

Cobalt protoporphyrin IX increases endogenous G‐CSF and mobilizes HSC and granulocytes to the blood
por: Szade, Agata, et al.
Publicado: (2019)

C-Met as a Key Factor Responsible for Sustaining Undifferentiated Phenotype and Therapy Resistance in Renal Carcinomas
por: Marona, Paulina, et al.
Publicado: (2019)

Deletion of Mcpip1 in Mcpip1(fl/fl)Alb(Cre) mice recapitulates the phenotype of human primary biliary cholangitis
por: Kotlinowski, Jerzy, et al.
Publicado: (2021)

Splenic Ly6C(hi) monocytes contribute to adverse late post-ischemic left ventricular remodeling in heme oxygenase-1 deficient mice
por: Tomczyk, Mateusz, et al.
Publicado: (2017)

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene
por: Slezak, Ryszard, et al.
Publicado: (2020)

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay
por: Ścieżyńska, Aneta, et al.
Publicado: (2017)

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
por: Pollak, Agnieszka, et al.
Publicado: (2017)

Heme Oxygenase-1 Has a Greater Effect on Melanoma Stem Cell Properties Than the Expression of Melanoma-Initiating Cell Markers
por: Kusienicka, Anna, et al.
Publicado: (2022)

MCPIP1, alias Regnase-1 binds and cleaves mRNA of C/EBPβ
por: Lipert, Barbara, et al.
Publicado: (2017)

Curcumin enhances the cytogenotoxic effect of etoposide in leukemia cells through induction of reactive oxygen species
por: Papież, Monika A, et al.
Publicado: (2016)

miR-146a deficiency does not aggravate muscular dystrophy in mdx mice
por: Bronisz-Budzyńska, Iwona, et al.
Publicado: (2019)

Monoallelic expression in melanoma
por: Silcock, Lee, et al.
Publicado: (2019)

Substrate specificity of human MCPIP1 endoribonuclease
por: Wilamowski, Mateusz, et al.
Publicado: (2018)

Autosomal monoallelic expression in the mouse
por: Zwemer, Lillian M, et al.
Publicado: (2012)

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
por: Truszkowska, Grażyna T., et al.
Publicado: (2017)

Effects of heme oxygenase-1 on induction and development of chemically induced squamous cell carcinoma in mice
por: Was, Halina, et al.
Publicado: (2011)

PPARγ activation but not PPARγ haplodeficiency affects proangiogenic potential of endothelial cells and bone marrow-derived progenitors
por: Kotlinowski, Jerzy, et al.
Publicado: (2014)

Monoallelic Expression of Multiple Genes in the CNS
por: Wang, Jinhui, et al.
Publicado: (2007)

Chromatin signature of widespread monoallelic expression
por: Nag, Anwesha, et al.
Publicado: (2013)

The influence of DNA methylation on monoallelic expression
por: da Rocha, Simão Teixeira, et al.
Publicado: (2019)

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
por: Szczałuba, Krzysztof, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_2dn1mpcjvge4qb1njm01ogone7