Cargando…

PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease

Our results prove that c.1871‐14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA‐based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice‐site variant if present...

Descripción completa

Detalles Bibliográficos
Autores principales:	Menezes, Juliane, Ventura, Célia, Costa, João Matos, Parreira, Elsa, Romão, Luísa, Gonçalves, João
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715601/ https://www.ncbi.nlm.nih.gov/pubmed/29225857 http://dx.doi.org/10.1002/ccr3.1226

Ejemplares similares

The impact of PROS1 mutation position on thrombotic risk in protein S–deficient patients
por: Fenclova, Tereza, et al.
Publicado: (2023)

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7
por: Mrożek, Magdalena, et al.
Publicado: (2020)

Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes
por: Graça, Rafael, et al.
Publicado: (2021)

Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder
por: Marques, Ana Rita, et al.
Publicado: (2022)

Pros & Cons
por: Herr, Yeek
Publicado: (2011)

Monoclonal Gammopathy of Renal Significance and Thrombotic Microangiopathy: A Case Report
por: Ventura, Sofia, et al.
Publicado: (2022)

HvGBSSI mutation at the splicing receptor site affected RNA splicing and decreased amylose content in barley
por: Feng, Xiuqin, et al.
Publicado: (2022)

All reported non-canonical splice site variants in GLA cause aberrant splicing
por: Okada, Eri, et al.
Publicado: (2023)

Recommendation of Early Surgery in Primary Mitral Regurgitation: Pros and Cons
por: Rosa, Vitor Emer Egypto, et al.
Publicado: (2016)

Thrombotic microangiopathy in oncology – a review
por: Valério, Patrícia, et al.
Publicado: (2021)

Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
por: García-Moreno, Juan F., et al.
Publicado: (2020)

Supercollider: Pros and cons
Publicado: (1993)

The Pros of Not Being Competitive
por: MUTEL, VINCENT, et al.
Publicado: (2007)

Circumcision: Pros and cons
por: Burgu, Berk, et al.
Publicado: (2010)

Puzzles for Programmers and Pros
por: Shasha, Dennis
Publicado: (2007)

The pros and cons of degeneracy
por: Goaillard, Jean-Marc, et al.
Publicado: (2014)

Expression of an alternatively spliced variant of SORL1 in neuronal dendrites is decreased in patients with Alzheimer’s disease
por: Monti, Giulia, et al.
Publicado: (2021)

A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia
por: Ahangari, Najmeh, et al.
Publicado: (2021)

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
por: Fadaie, Zeinab, et al.
Publicado: (2019)

Integrating HIV and Family Planning Services: The Pros and Cons
por: Mekonnen, Dessie Ayalew, et al.
Publicado: (2020)

Machine learning with PROs in breast cancer surgery; caution: Collecting PROs at baseline is crucial
por: van Egdom, Laurentine S. E., et al.
Publicado: (2020)

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family
por: Nieminen, Taina T., et al.
Publicado: (2021)

Vaccine-Induced Thrombotic Thrombocytopenia: A Case Report
por: Silva, Luciana, et al.
Publicado: (2022)

CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites
por: Strauch, Yaron, et al.
Publicado: (2022)

Pros and Cons of Dual-Energy CT Systems: “One Does Not Fit All”
por: Borges, Ana P., et al.
Publicado: (2023)

Medical dramas – the pros and the cons
por: Aboud, Khalid Al
Publicado: (2012)

Pros and cons of student journals
por: Aboshady, Omar Ali, et al.
Publicado: (2016)

Is an HIV vaccine achievable? - Pros
por: Girard, Marc
Publicado: (2014)

Corticosteroids for severe CAP: the pros
por: Torres, Antoni
Publicado: (2015)

Rheumatology in Greece: pros and cons
por: Moutsopoulos, Haralampos M.
Publicado: (2020)

The Pros and Comms of Gene Sequencing
por: Horgan, Denis, et al.
Publicado: (2017)

Veterinary nanomedicine: Pros and cons
por: Jafary, Fariba, et al.
Publicado: (2022)

Genetic Variants in the Protein S ( PROS1 ) Gene and Protein S Deficiency in a Danish Population
por: Larsen, Ole Halfdan, et al.
Publicado: (2021)

What’s Wrong in a Jump? Prediction and Validation of Splice Site Variants
por: Riolo, Giulia, et al.
Publicado: (2021)

Atypical Sotos syndrome caused by a novel splice site variant
por: Minatogawa, Mari, et al.
Publicado: (2022)

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction
por: Harvey, Joshua Paul, et al.
Publicado: (2022)

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
por: Reurink, Janine, et al.
Publicado: (2022)

An updated classification of thrombotic microangiopathies and treatment of complement gene variant-mediated thrombotic microangiopathy
por: Aigner, Christof, et al.
Publicado: (2019)

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia
por: da Palma, Mariana Matioli, et al.
Publicado: (2020)

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example
por: Santos, Juliana Inês, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_q4kq1na7sobqpbk76g856pc6gu