Cargando…

Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature

The NFIA (nuclear factor I/A) gene encodes for a transcription factor belonging to the nuclear factor I family and has key roles in various embryonic differentiation pathways. In humans, NFIA is the major contributor to the phenotypic traits of “Chromosome 1p32p31 deletion syndrome”. We report on tw...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bertini, Veronica, Cambi, Francesca, Orsini, Alessandro, Bonuccelli, Alice, Fiorini, Aureliano, Santangelo, Andrea, Scacciati, Massimo, Elia, Maurizio, Galesi, Ornella, Peroni, Diego, Valetto, Angelo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777632/ https://www.ncbi.nlm.nih.gov/pubmed/36553517 http://dx.doi.org/10.3390/genes13122249

Ejemplares similares

Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome
por: Bertini, Veronica, et al.
Publicado: (2019)

NFIA haploinsufficiency: case series and literature review
por: Dini, Gianluca, et al.
Publicado: (2023)

A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?
por: Bertini, Veronica, et al.
Publicado: (2017)

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects
por: Lu, Weining, et al.
Publicado: (2007)

Methylenetetrahydrofolate reductase polymorphism (MTHFR C677T) and headache in children: a retrospective study from a tertiary level outpatient service
por: Orsini, A., et al.
Publicado: (2018)

Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
por: Gana, Simone, et al.
Publicado: (2019)

Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances
por: Bertini, Veronica, et al.
Publicado: (2022)

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
por: Marinella, Gemma, et al.
Publicado: (2023)

Combined allelic dosage of Nfia and Nfib regulates cortical development
por: Bunt, Jens, et al.
Publicado: (2017)

Truncating mutation in NFIA causes brain malformation and urinary tract defects
por: Negishi, Yutaka, et al.
Publicado: (2015)

Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
por: Laccetta, Gianluigi, et al.
Publicado: (2015)

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
por: Kurtas, Nehir Edibe, et al.
Publicado: (2018)

PAX6 does not regulate Nfia and Nfib expression during neocortical development
por: Bunt, Jens, et al.
Publicado: (2015)

Prognostic significance of NFIA and NFIB in esophageal squamous carcinoma and esophagogastric junction adenocarcinoma
por: Yang, Bo, et al.
Publicado: (2018)

Identification and validation of NFIA as a novel prognostic marker in renal cell carcinoma
por: de Alwis, Roger, et al.
Publicado: (2023)

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development
por: Bertini, Veronica, et al.
Publicado: (2023)

Cell-specific NFIA upregulation promotes epileptogenesis by TRPV4-mediated astrocyte reactivity
por: Kong, Shuo, et al.
Publicado: (2023)

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
por: Bertini, Veronica, et al.
Publicado: (2017)

Efficacy of Liposomal Melatonin in sleep EEG in Childhood: A Double Blind Case Control Study
por: Bonuccelli, Alice, et al.
Publicado: (2022)

Autism spectrum disorder and genetic: a possible correlation?
por: Violi, M., et al.
Publicado: (2023)

Mothers and fathers of children with epilepsy: gender differences in post-traumatic stress symptoms and correlations with mood spectrum symptoms
por: Carmassi, Claudia, et al.
Publicado: (2018)

Nfia deletion in myeloid cells blocks expansion of myeloid-derived suppressor cells during sepsis
por: Dai, Jun, et al.
Publicado: (2017)

NFIA determines the cis-effect of genetic variation on Ucp1 expression in murine thermogenic adipocytes
por: Hiraike, Yuta, et al.
Publicado: (2022)

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
por: Orsini, Alessandro, et al.
Publicado: (2022)

Mutual Antagonism Between Sox10 and NFIA Regulates Diversification of Glial Lineages and Glioma Sub-Types
por: Glasgow, Stacey, et al.
Publicado: (2014)

Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion
por: Alberio, Antonino Maria Quintilio, et al.
Publicado: (2022)

Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency
por: Barna, Maria, et al.
Publicado: (2008)

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
por: Serpieri, Valentina, et al.
Publicado: (2022)

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis
por: Cavone, Federica, et al.
Publicado: (2023)

NFIA is a gliogenic switch enabling rapid derivation of functional human astrocytes from pluripotent stem cells
por: Tchieu, Jason, et al.
Publicado: (2019)

MiRNA-671-5p Promotes prostate cancer development and metastasis by targeting NFIA/CRYAB axis
por: Zhu, Zhiguo, et al.
Publicado: (2020)

Case Report: MIS-C With Prominent Hepatic and Pancreatic Involvement in a Vaccinated Adolescent – A Critical Reasoning
por: Consolini, Rita, et al.
Publicado: (2022)

PRES-like leukoencephalopathy presenting with status epilepticus associated with Brentuximab Vedotin treatment
por: Orsini, Alessandro, et al.
Publicado: (2021)

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
por: Li, Guo-min, et al.
Publicado: (2019)

Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options
por: Rodari, Marco M., et al.
Publicado: (2023)

miR-29a activates Hes1 by targeting Nfia in esophageal carcinoma cell line TE-1
por: LIU, CHANG, et al.
Publicado: (2015)

NFIA differentially controls adipogenic and myogenic gene program through distinct pathways to ensure brown and beige adipocyte differentiation
por: Hiraike, Yuta, et al.
Publicado: (2020)

The NFIA-ETO2 fusion blocks erythroid maturation and induces pure erythroid leukemia in cooperation with mutant TP53
por: Piqué-Borràs, Maria-Riera, et al.
Publicado: (2023)

Hsa-miR-223-3p participates in the process of anthracycline-induced cardiomyocyte damage by regulating NFIA gene
por: Han, Xiao, et al.
Publicado: (2023)

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
por: Rocca, Maria Santa, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_tlkpfvvnmn4ott9808dsc7fa8s