Cargando…

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Harris, Antoneicka L., Blackburn, Patrick R., Richter, John E., Gass, Jennifer M., Caulfield, Thomas R., Mohammad, Ahmed N., Atwal, Paldeep S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842716/ https://www.ncbi.nlm.nih.gov/pubmed/29682366 http://dx.doi.org/10.1155/2018/6968395

Ejemplares similares

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient
por: Gass, Jennifer, et al.
Publicado: (2017)

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
por: Lara‐Velazquez, Montserrat, et al.
Publicado: (2017)

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1
por: Blackburn, Patrick R., et al.
Publicado: (2017)

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer
por: Gass, Jennifer, et al.
Publicado: (2017)

Urticaria and angioedema
por: Kanani, Amin, et al.
Publicado: (2011)

Urticaria and angioedema
por: Kanani, Amin, et al.
Publicado: (2018)

Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
por: DeMeo, Natasha N., et al.
Publicado: (2017)

Chronic urticaria with angioedema
por: Nasser, Sarah, et al.
Publicado: (2021)

Urticaria and Angioedema Associated with Fluoxetine
por: Tuman, Taha Can, et al.
Publicado: (2017)

Urticaria and Angioedema Associated with Haloperidol
por: Balai, Manisha, et al.
Publicado: (2017)

Epidemiology of urticaria including physical urticaria and angioedema in Korea
por: Seo, Jeong-Hun, et al.
Publicado: (2019)

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain
por: Coban, Mathew A., et al.
Publicado: (2020)

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype
por: Richter, John E, et al.
Publicado: (2018)

Caffeine as a cause of urticaria-angioedema
por: Tognetti, Linda, et al.
Publicado: (2014)

Urticaria and angioedema as possible reactions of omalizumab
por: Ozbagcivan, Ozlem, et al.
Publicado: (2018)

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia
por: Hines, Stephanie L., et al.
Publicado: (2019)

Expanded phenotype in a patient with spastic paraplegia 7
por: Gass, Jennifer, et al.
Publicado: (2017)

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)
por: Sunde, Kiri, et al.
Publicado: (2016)

Adjunctive treatment of chronic idiopathic urticaria and angioedema with sulfasalazine
por: Pitt, T, et al.
Publicado: (2010)

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family
por: Caulfield, Thomas R., et al.
Publicado: (2018)

The care pathway for children with urticaria, angioedema, mastocytosis
por: Ferrante, Giuliana, et al.
Publicado: (2015)

Whole-exome sequencing of a pedigree segregating asthma
por: DeWan, Andrew T, et al.
Publicado: (2012)

Urticaria y Angioedema : estudio clínico retrospectivo de 117 casos y revisión de la literatura/
por: Arronte Gómez, Armín
Publicado: (1994)

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes
por: Macklin, Sarah, et al.
Publicado: (2018)

Holocarboxylase synthetase deficiency pre and post newborn screening
por: Donti, Taraka R., et al.
Publicado: (2016)

Diagnosis and Treatment of Urticaria and Angioedema: A Worldwide Perspective
por: Sánchez-Borges, Mario, et al.
Publicado: (2012)

Acute urticaria with angioedema in the setting of coronavirus disease 2019
por: Adeliño, Raquel, et al.
Publicado: (2020)

A Case Report of Steroid-Induced Angioedema and Urticaria
por: Wan, Leo, et al.
Publicado: (2023)

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations
por: Richter, John E., et al.
Publicado: (2019)

Maple syrup urine disease: mechanisms and management
por: Blackburn, Patrick R, et al.
Publicado: (2017)

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma
por: Mackay, Donna S., et al.
Publicado: (2015)

594 Life-Threatening Angioedema without Urticaria (Ae-U)
por: Corey, Jacquelynne, et al.
Publicado: (2012)

Urticaria and angioedema associated with SARS-CoV-2 infection
por: Zipursky, Jonathan S., et al.
Publicado: (2021)

Impact of comorbidities on risk of angioedema without urticaria in elderly patients
por: Bożek, Andrzej, et al.
Publicado: (2021)

Chronic Urticaria—Pathogenesis, Diagnostics, Therapy and Influence of Coexisting Angioedema
por: Pluta-Kubicz, Marzena, et al.
Publicado: (2023)

A rare missense variant in RCL1 segregates with depression in extended families
por: Amin, N, et al.
Publicado: (2018)

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly
por: Guo, Xingping, et al.
Publicado: (2016)

Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II
por: Richter, John E., et al.
Publicado: (2018)

Cover
por: Caulfield, Thomas R., et al.
Publicado: (2018)

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm
por: Mohammad, Ahmed, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_q98sev97cgefi41d0a7t564o03