Cargando…

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE

Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene (n = 809; 1,494 pedigrees), accounting for 86.8% of HAE families, showing a pronounced mutagenic liability of SERPING1 and pertaining to 5.6% de novo variants. C1-INH is the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Drouet, Christian, López-Lera, Alberto, Ghannam, Arije, López-Trascasa, Margarita, Cichon, Sven, Ponard, Denise, Parsopoulou, Faidra, Grombirikova, Hana, Freiberger, Tomáš, Rijavec, Matija, Veronez, Camila L., Pesquero, João Bosco, Germenis, Anastasios E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Allergy
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361472/ https://www.ncbi.nlm.nih.gov/pubmed/35958943 http://dx.doi.org/10.3389/falgy.2022.835503

Ejemplares similares

Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE)
por: Parsopoulou, Faidra, et al.
Publicado: (2022)

A patient with hereditary angioedema (HAE) with normal C1-INH and SLE with pregnancy
por: Taha, Omar S., et al.
Publicado: (2022)

Subcutaneous C1‐Inhibitor Concentrate for prophylaxis during pregnancy and lactation in a patient with C1‐INH‐HAE
por: Andarawewa, Shimalee, et al.
Publicado: (2021)

Individual approach to long-term therapy in patients with hereditary angioedema (HAE-C1-INH): A case series
por: Andarawewa, S., et al.
Publicado: (2022)

Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE)
por: Palao-Ocharan, Paola, et al.
Publicado: (2022)

Icatibant use in Brazilian patients with hereditary angioedema (HAE) type 1 or 2 and HAE with normal C1-INH levels: findings from the Icatibant Outcome Survey Registry Study()
por: Grumach, Anete S., et al.
Publicado: (2022)

Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
por: Grombirikova, Hana, et al.
Publicado: (2023)

Combined anti-C1-INH and radiotherapy against glioblastoma
por: Liljedahl, Emma, et al.
Publicado: (2023)

Distinction of early complement classical and lectin pathway activation via quantification of C1s/C1-INH and MASP-1/C1-INH complexes using novel ELISAs
por: Hurler, Lisa, et al.
Publicado: (2022)

C1-esterase inhibitor (C1INH) implication in systemic inflammation in sepsis
por: Igonin, A, et al.
Publicado: (2010)

Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency
por: López-Lera, Alberto, et al.
Publicado: (2014)

Physicochemical and Biological Characterization of rhC1INH Expressed in CHO Cells
por: Zubareva, Ekaterina, et al.
Publicado: (2021)

Expression of INHβA and INHβB proteins in porcine oocytes cultured in vitro is dependent on the follicle size
por: Kempisty, Bartosz, et al.
Publicado: (2015)

Short-term prophylaxis (STP) with plasma derived human C1 inhibitor concentrate (pdhC1-INH) in two pregnant women with hereditary angioedema (HAE): an experience in Rio de Janeiro – Brazil
por: Valle, Solange Oliveira Rodrigues, et al.
Publicado: (2015)

Hereditary angioedema with C1 inhibitor (C1-INH) deficit: the strength of recognition (51 cases)
por: Fragnan, N.T.M.L., et al.
Publicado: (2018)

Effectiveness of C1-INH therapy in angiotensin converting enzyme inhibitor induced angioedema
por: Kovaltchouk, Uliana, et al.
Publicado: (2021)

Rice protein phosphatase 1 regulatory subunits OsINH2 and OsINH3 participate actively in growth and adaptive responses under abscisic acid
por: Jadoon, Sawaira, et al.
Publicado: (2022)

Clinical and genetic features of hereditary angioedema with and without C1‐inhibitor (C1‐INH) deficiency in Japan
por: Hashimura, Chinami, et al.
Publicado: (2021)

Considerations in the management of hereditary angioedema due to C1-INH deficiency in women of childbearing age
por: Hsu, Florence Ida, et al.
Publicado: (2022)

A new mutation in the SERPING1 gene in a Brazilian family with hereditary angioedema
por: Da Silva, Jane, et al.
Publicado: (2015)

Correction: Considerations in the management of hereditary angioedema due to C1-INH deficiency in women of childbearing age
por: Hsu, Florence Ida, et al.
Publicado: (2022)

Binding Thermodynamics and Dissociation Kinetics Analysis Uncover the Key Structural Motifs of Phenoxyphenol Derivatives as the Direct InhA Inhibitors and the Hotspot Residues of InhA
por: Zhang, Qianqian, et al.
Publicado: (2022)

A Case of Acquired Angioedema with Low C1 Inhibitor (C1-INH) Associated with Splenic Marginal Zone Lymphoma
por: Abdel-Samad, Nizar N., et al.
Publicado: (2019)

Fragment-Based Design of Mycobacterium tuberculosis InhA Inhibitors
por: Sabbah, Mohamad, et al.
Publicado: (2020)

Targeting endometrial inflammation in intrauterine adhesion ameliorates endometrial fibrosis by priming MSCs to secrete C1INH
por: Yao, Simin, et al.
Publicado: (2023)

Autoantibodies against Complement Classical Pathway Components C1q, C1r, C1s and C1-Inh in Patients with Lupus Nephritis
por: Radanova, Maria, et al.
Publicado: (2022)

Discovery of a cofactor-independent inhibitor of Mycobacterium tuberculosis InhA
por: Xia, Yi, et al.
Publicado: (2018)

Correction to Fragment-Based Design of Mycobacterium tuberculosis InhA Inhibitors
por: Sabbah, Mohamad, et al.
Publicado: (2020)

Investigating the CYP2E1 Potential Role in the Mechanisms Behind INH/LPS-Induced Hepatotoxicity
por: Hassan, Hozeifa M., et al.
Publicado: (2018)

Practicalities of a reduced volume formulation of a C1-INH concentrate for the treatment of hereditary angioedema: real-life experience
por: Dempster, John
Publicado: (2018)

Indirect Comparison of Lanadelumab and Intravenous C1-INH Using Data from the HELP and CHANGE Studies: Bayesian and Frequentist Analyses
por: Mendivil, Joan, et al.
Publicado: (2021)

The expression of C1 inhibitor (C1INH) in macrophages is upregulated by retinal pigment epithelial cells – implication in subretinal immune privilege in the aging eye
por: Luo, Chang, et al.
Publicado: (2018)

Proteomic Analysis of Drug-Resistant Mycobacteria: Co-Evolution of Copper and INH Resistance
por: Chen, Yuling, et al.
Publicado: (2015)

InhA inhibitors have activity against non-replicating Mycobacterium tuberculosis
por: Flint, Lindsay, et al.
Publicado: (2020)

InhA1-Mediated Cleavage of the Metalloprotease NprA Allows Bacillus cereus to Escape From Macrophages
por: Haydar, Abbass, et al.
Publicado: (2018)

Use of a C1 Inhibitor Concentrate in Adults ≥65 Years of Age with Hereditary Angioedema: Findings from the International Berinert(®) (C1-INH) Registry
por: Bygum, Anette, et al.
Publicado: (2016)

Predictive Power of ETRE Polymorphism and Katg463 Mutation to INH-Resistance of M.tuberculosis
por: WEN, Yu-feng, et al.
Publicado: (2015)

Pattern of InhA and KatG mutations in isoniazid monoresistant Mycobacterium tuberculosis isolates
por: Charan, Ashok Singh, et al.
Publicado: (2020)

Intravaginal isonicotinic acid hydrazide (INH) versus misoprostol for cervical ripening prior to hysteroscopy
por: Haghighi, Ladan, et al.
Publicado: (2020)

Clarity with INHindsight: High-Dose Isoniazid for Drug-Resistant Tuberculosis with inhA Mutations
por: Wasserman, Sean, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_vkisjiiehsq49kom9m5j14sdp4