Cargando…

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

Rare inherited coagulation disorders (RICDs) are congenital deficiencies of the plasma proteins that are involved in blood coagulation, which generally lead to lifelong bleeding manifestations. These diseases are generally qualitative and/or quantitative defects that are associated with monoallelic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Paraboschi, Elvezia Maria, Menegatti, Marzia, Peyvandi, Flora, Duga, Stefano, Asselta, Rosanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412230/ https://www.ncbi.nlm.nih.gov/pubmed/30791524 http://dx.doi.org/10.3390/ijms20040910

Ejemplares similares

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2017)

Hereditary Hypofibrinogenemia with Hepatic Storage
por: Asselta, Rosanna, et al.
Publicado: (2020)

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis
por: Cardamone, Giulia, et al.
Publicado: (2017)

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy
por: Asselta, Rosanna, et al.
Publicado: (2020)

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2015)

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2018)

Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients
por: Cardamone, Giulia, et al.
Publicado: (2018)

Genetic susceptibility to severe COVID-19
por: Cappadona, Claudio, et al.
Publicado: (2023)

Editorial: RNA Splicing and Backsplicing: Disease and Therapy
por: Asselta, Rosanna, et al.
Publicado: (2020)

Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2011)

The Role of Epigenetics in Primary Biliary Cholangitis
por: Gerussi, Alessio, et al.
Publicado: (2022)

DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease
por: Vecellio, Matteo, et al.
Publicado: (2021)

Needles in Haystacks: Understanding the Success of Selective Pairing of Nucleic Acids
por: Plata, Carlos A., et al.
Publicado: (2022)

Mycobacterium tuberculosis Drives Expansion of Low-Density Neutrophils Equipped With Regulatory Activities
por: La Manna, Marco Pio, et al.
Publicado: (2019)

β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration
por: Lunghi, Giulia, et al.
Publicado: (2022)

An international registry of patients with plasminogen deficiency (HISTORY)
por: Shapiro, Amy D., et al.
Publicado: (2020)

Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript
por: Rimoldi, Valeria, et al.
Publicado: (2013)

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
por: Straniero, Letizia, et al.
Publicado: (2018)

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family
por: Soldà, Giulia, et al.
Publicado: (2015)

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
por: Soldà, Giulia, et al.
Publicado: (2012)

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
por: Chiereghin, Chiara, et al.
Publicado: (2017)

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
por: Chiereghin, Chiara, et al.
Publicado: (2021)

Aberrant Factors of Fibrinolysis and Coagulation in Pancreatic Cancer
por: Fang, Lianghua, et al.
Publicado: (2021)

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
por: Trotta, Luca, et al.
Publicado: (2012)

Glucocerebrosidase mutations in primary parkinsonism
por: Asselta, Rosanna, et al.
Publicado: (2014)

Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas
por: De Sousa, Sunita M C, et al.
Publicado: (2020)

Congenital coagulation factor V deficiency with intracranial hemorrhage
por: Yang, Jingjing, et al.
Publicado: (2022)

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p
por: Straniero, Letizia, et al.
Publicado: (2017)

Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases
por: Tisato, Veronica, et al.
Publicado: (2018)

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis
por: Cagliani, Rachele, et al.
Publicado: (2011)

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature
por: Asselta, Rosanna, et al.
Publicado: (2021)

Global impact of aberrant splicing on human gene expression levels
por: Fair, Benjamin, et al.
Publicado: (2023)

A Case of Coagulation Factor V Deficiency Complicated with Intracranial Hemorrhage
por: Yoon, Suk-Gu, et al.
Publicado: (1997)

OxDNA to Study Species Interactions
por: Mambretti, Francesco, et al.
Publicado: (2022)

Mechanistic Insights of Aberrant Splicing with Splicing Factor Mutations Found in Myelodysplastic Syndromes
por: Kataoka, Naoyuki, et al.
Publicado: (2021)

Background splicing as a predictor of aberrant splicing in genetic disease
por: D, Alexieva, et al.
Publicado: (2022)

Acquired deficiency of coagulation factor VII
por: da Silva, Vanessa Afonso, et al.
Publicado: (2015)

Radiomics and gene expression profile to characterise the disease and predict outcome in patients with lung cancer
por: Kirienko, Margarita, et al.
Publicado: (2021)

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear
por: Chiereghin, Chiara, et al.
Publicado: (2023)

No changes of parameters nor coagulation activation in healthy subjects vaccinated for SARS-Cov-2
por: Peyvandi, Flora, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_tugn2ib9bga305vlc4oanpshij