Cargando…

Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A

INTRODUCTION: Inhibitor development affects about 30% of patients with severe haemophilia A (HA) and results from different environmental and genetic risk factors. Previously, we identified the missense variant rs3754689 in the LCT gene linked with this predisposition. Since rs3754689 variant is ben...

Descripción completa

Detalles Bibliográficos
Autores principales:	Spena, Silvia, Cairo, Andrea, Pappalardo, Emanuela, Gorski, Marcin M., Garagiola, Isabella, Hassan, Shermarke, Gualtierotti, Roberta, Peyvandi, Flora
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306754/ https://www.ncbi.nlm.nih.gov/pubmed/35182444 http://dx.doi.org/10.1111/hae.14503

Ejemplares similares

Genetic Variants Identified by Whole Exome Sequencing in a Large Italian Family with High Plasma Levels of Factor VIII and Von Willebrand Factor
por: Spena, Silvia, et al.
Publicado: (2023)

Performance of a clinical risk prediction model for inhibitor formation in severe haemophilia A
por: Hassan, Shermarke, et al.
Publicado: (2021)

Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein
por: Spena, Silvia, et al.
Publicado: (2021)

Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland
por: Clark, Jeremy S. C., et al.
Publicado: (2022)

Product type and other environmental risk factors for inhibitor development in severe hemophilia A
por: Peyvandi, Flora, et al.
Publicado: (2018)

Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report
por: Chen, Shuang, et al.
Publicado: (2020)

Updates on Novel Non-Replacement Drugs for Hemophilia
por: Gualtierotti, Roberta, et al.
Publicado: (2022)

Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia
por: Ma, Yuanlin, et al.
Publicado: (2015)

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects
por: Iourov, Ivan Y., et al.
Publicado: (2018)

Immune Responses to Plasma-Derived Versus Recombinant FVIII Products
por: Peyvandi, Flora, et al.
Publicado: (2021)

Management of haemophilia A with inhibitors: A regional cross‐talk
por: Peyvandi, Flora, et al.
Publicado: (2022)

Hemophilic arthropathy: Current knowledge and future perspectives
por: Gualtierotti, Roberta, et al.
Publicado: (2021)

On the Wegener granulomatosis associated region on chromosome 6p21.3
por: Szyld, Paweł, et al.
Publicado: (2006)

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
por: Halperin, Daniel, et al.
Publicado: (2022)

Worldwide SARS-CoV-2 haplotype distribution in early pandemic
por: Cairo, Andrea, et al.
Publicado: (2022)

Addiction to Golgi-resident PI4P synthesis in chromosome 1q21.3–amplified lung adenocarcinoma cells
por: Shi, Lei, et al.
Publicado: (2021)

De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability
por: Milone, Roberta, et al.
Publicado: (2021)

Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects
por: Gorski, Marcin M., et al.
Publicado: (2019)

The evolution of physiotherapy in the multidisciplinary management of persons with haemophilia (PWH): A scoping review
por: Boccalandro, Elena A., et al.
Publicado: (2022)

Burden of mild haemophilia A: Systematic literature review
por: Peyvandi, Flora, et al.
Publicado: (2019)

Common variants at 2q37.3, 8q24.21, 15q21.3, and 16q24.1 influence chronic lymphocytic leukemia risk
por: Crowther-Swanepoel, Dalemari, et al.
Publicado: (2010)

Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders
por: Xiao, Xiao, et al.
Publicado: (2017)

Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer
por: Loveday, Chey, et al.
Publicado: (2017)

Localization of an hTERT repressor region on human chromosome 3p21.3 using chromosome engineering
por: Abe, Satoshi, et al.
Publicado: (2010)

MACHETE identifies interferon-encompassing chromosome 9p21.3 deletions as mediators of immune evasion and metastasis
por: Barriga, Francisco M., et al.
Publicado: (2022)

Human chromosome 3p21.3 carries TERT transcriptional regulators in pancreatic cancer
por: Yagyu, Takuki, et al.
Publicado: (2021)

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
por: Ambrosetti, Irene, et al.
Publicado: (2023)

The usefulness of D-dimer as a predictive marker for mortality in patients with COVID-19 hospitalized during the first wave in Italy
por: Hassan, Shermarke, et al.
Publicado: (2022)

The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3
por: Ke, Xiaoan, et al.
Publicado: (2023)

Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis
por: Gorski, Marcin M., et al.
Publicado: (2016)

Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma
por: Dong, Hui, et al.
Publicado: (2011)

Chromosome 9p21.3 is Associated with Early-Onset Coronary Heart Disease in the Irish Population
por: Meng, Weihua, et al.
Publicado: (2008)

A Unique Three-Way Variant Philadelphia Chromosome t(6;9;22)(p21.3;q34;q11.2) in a Newly Diagnosed Patient with Chronic Myeloid Leukemia Responded to Flumatinib
por: Chen, Lili, et al.
Publicado: (2022)

A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia
por: Othman, Moneeb A. K., et al.
Publicado: (2014)

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism
por: Choi, Young-Jin, et al.
Publicado: (2016)

Evolution of Haemophilia Care in Europe: 10 years of the principles of care
por: Noone, D., et al.
Publicado: (2020)

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3
por: MacGregor, Stuart, et al.
Publicado: (2011)

Deletions at the chromosome 3 common eliminated region 1 on 3p21.3 in human breast tumors
por: Petursdottir, ThE, et al.
Publicado: (2005)

Interaction between a variant of chromosome 9p21.3 locus and diet antioxidant capacity on metabolic syndrome in Tehrani adults
por: Mirzababaei, Atieh, et al.
Publicado: (2018)

Association of Common Variants of APOE, CETP, and the 9p21.3 Chromosomal Region with the Risk of Myocardial Infarction: A Prospective Study
por: Semaev, Sergey, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_b8n7db031197mmuggmf0199clt