Cargando…

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant

BACKGROUND: to perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.85_86del denominated NKX2-1(DEL)) identified in a family presenting with isolated respiratory disease, in comparison to another frameshift variant (c.254dup denominated NKX2-1(DUP)) identified in a subject with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Delestrain, Céline, Aissat, Abdel, Nattes, Elodie, Gibertini, Isabelle, Lacroze, Valérie, Simon, Stéphanie, Decrouy, Xavier, de Becdelièvre, Alix, Fanen, Pascale, Epaud, Ralph
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9888430/ https://www.ncbi.nlm.nih.gov/pubmed/36733766 http://dx.doi.org/10.3389/fped.2022.978598

Ejemplares similares

Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
por: Castaldo, Alice, et al.
Publicado: (2023)

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate
por: AlAnazi, AlNashmi, et al.
Publicado: (2017)

NKX2.1 (TTF1) germline mutation associated with pulmonary fibrosis and lung cancer
por: Borie, Raphael, et al.
Publicado: (2021)

COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking
por: Drévillon, Loïc, et al.
Publicado: (2011)

Structure-Based Understanding of ABCA3 Variants
por: Onnée, Marion, et al.
Publicado: (2021)

Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR
por: Degrugillier, Fanny, et al.
Publicado: (2020)

Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping
por: Degrugillier, Fanny, et al.
Publicado: (2019)

New use for an old drug: COX‐independent anti‐inflammatory effects of sulindac in models of cystic fibrosis
por: Rocca, Jérémy, et al.
Publicado: (2016)

Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
por: Mekki, Chadia, et al.
Publicado: (2021)

The Impact of Air Pollution on the Course of Cystic Fibrosis: A Review
por: Blayac, Marion, et al.
Publicado: (2022)

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier
por: Hinzpeter, Alexandre, et al.
Publicado: (2010)

Small Hsps as Therapeutic Targets of Cystic Fibrosis Transmembrane Conductance Regulator Protein
por: Simon, Stéphanie, et al.
Publicado: (2021)

The Homeodomain Transcription Factor NKX3.1 Modulates Bladder Outlet Obstruction Induced Fibrosis in Mice
por: Patel, Mehul S., et al.
Publicado: (2019)

A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss
por: Liang, Jingwen, et al.
Publicado: (2022)

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
por: Gaboon, Nagwa E. A., et al.
Publicado: (2020)

Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension
por: Lu, Yi-Ting, et al.
Publicado: (2021)

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
por: Gaboon, Nagwa E. A., et al.
Publicado: (2019)

Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
por: Yang, Yang, et al.
Publicado: (2023)

Diagnostic workup of childhood interstitial lung disease
por: Nathan, Nadia, et al.
Publicado: (2023)

Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences
por: Cuppens, Tania, et al.
Publicado: (2023)

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
por: Luo, Fang-Mei, et al.
Publicado: (2021)

Focus on Apoptosis to Decipher How Alcohol and Many Other Drugs Disrupt Brain Development
por: Olney, John W.
Publicado: (2014)

THU149 A Novel Frameshift Mutation (p.H485fs) Of The Ldl Receptor Gene
por: Chang, Seong Hwan, et al.
Publicado: (2023)

A Video Report of Brain–Lung–Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene
por: Tozawa, Takenori, et al.
Publicado: (2016)

Comparison of telerobotic and conventional ultrasonography in children: a crossover bicentric pilot study
por: Delestrain, Celine, et al.
Publicado: (2023)

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles
por: Riedhammer, Korbinian Maria, et al.
Publicado: (2017)

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
por: Richard, Pascale, et al.
Publicado: (2017)

Difficulties in the treatment of an infant survivor with inherited surfactant protein-B deficiency in Tunisia
por: Hamouda, Samia, et al.
Publicado: (2022)

Nkx2.7 and Nkx2.5 Function Redundantly and Are Required for Cardiac Morphogenesis of Zebrafish Embryos
por: Tu, Chi-Tang, et al.
Publicado: (2009)

An astrovirus frameshift signal induces ribosomal frameshifting in vitro
por: Lewis, T. L., et al.
Publicado: (1995)

T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
por: Rios, Xavier, et al.
Publicado: (2017)

An update on paediatric respiratory diseases
por: Epaud, Ralph
Publicado: (2018)

The NANCI–Nkx2.1 gene duplex buffers Nkx2.1 expression to maintain lung development and homeostasis
por: Herriges, Michael J., et al.
Publicado: (2017)

NKL Homeobox Genes NKX2-3 and NKX2-4 Deregulate Megakaryocytic-Erythroid Cell Differentiation in AML
por: Nagel, Stefan, et al.
Publicado: (2021)

The Impact of the Current SARS-CoV-2 Pandemic on Neonatal Care
por: Arnaez, Juan, et al.
Publicado: (2020)

La psicologpia francesa contemporánea /
por: Lacroze, René
Publicado: (1954)

Invasive Streptococcus pyogenes Infections in <3-Month-Old Infants in France: Clinical and Laboratory Features
por: Germont, Zoé, et al.
Publicado: (2020)

The Role of Nkx3.1 in Cancers and Stemness
por: Antao, Ainsley Mike, et al.
Publicado: (2021)

Expression of Sumoylation Deficient Nkx2.5 Mutant in Nkx2.5 Haploinsufficient Mice Leads to Congenital Heart Defects
por: Kim, Eun Young, et al.
Publicado: (2011)

+1 Frameshifting as a Novel Mechanism to Generate a Cryptic Cytotoxic T Lymphocyte Epitope Derived from Human Interleukin 10
por: Saulquin, Xavier, et al.
Publicado: (2002)

Cannot write session to /tmp/vufind_sessions/sess_4lgas39hlnirtpc7r31k8fl9rp