Cargando…

Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients—Lessons from Wide Genome Analyses

Introduction: Hemophilia A (HA) is an X-linked bleeding disorder caused by factor VIII (FVIII) deficiency or dysfunction due to F8 gene mutations. HA carriers are usually asymptomatic because their FVIII levels correspond to approximately half of the concentration found in healthy individuals. Howev...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dardik, Rima, Avishai, Einat, Lalezari, Shadan, Barg, Assaf A., Levy-Mendelovich, Sarina, Budnik, Ivan, Barel, Ortal, Khavkin, Yulia, Kenet, Gili, Livnat, Tami
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396640/ https://www.ncbi.nlm.nih.gov/pubmed/34445777 http://dx.doi.org/10.3390/ijms22169074

Ejemplares similares

Management of surgery in persons with hemophilia A receiving emicizumab prophylaxis: data from a national hemophilia treatment center
por: Cohen, Omri, et al.
Publicado: (2023)

Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions
por: Dardik, Rima, et al.
Publicado: (2023)

Women with Hemophilia: Case Series of Reproductive Choices and Review of Literature
por: Lalezari, Shadan, et al.
Publicado: (2021)

Real-World Data on Bleeding Patterns of Hemophilia A Patients Treated with Emicizumab
por: Levy-Mendelovich, Sarina, et al.
Publicado: (2021)

Factor VIII inhibitors in hemophilia A treated with emicizumab: longitudinal follow-up of outcomes
por: Levy-Mendelovich, Sarina, et al.
Publicado: (2023)

Association between Thrombin Generation and Clinical Characteristics in COVID-19 Patients
por: Cohen, Omri, et al.
Publicado: (2023)

Activated Protein C (APC) and 3K3A-APC-Induced Regression of Choroidal Neovascularization (CNV) Is Accompanied by Vascular Endothelial Growth Factor (VEGF) Reduction
por: Livnat, Tami, et al.
Publicado: (2021)

3K3A-Activated Protein C Prevents Microglia Activation, Inhibits NLRP3 Inflammasome and Limits Ocular Inflammation
por: Palevski, Dahlia, et al.
Publicado: (2022)

3K3A-Activated Protein C Inhibits Choroidal Neovascularization Growth and Leakage and Reduces NLRP3 Inflammasome, IL-1β, and Inflammatory Cell Accumulation in the Retina
por: Weinberger, Yehonatan, et al.
Publicado: (2023)

Most impactful COVID‐19 articles in the field of thrombosis and hemostasis literature
por: Klang, Eyal, et al.
Publicado: (2022)

Possible involvement of NETosis in inflammatory processes in the eye: Evidence from a small cohort of patients
por: Barliya, Tilda, et al.
Publicado: (2017)

Population pharmacokinetic (PopPK) modelling indicates that patients switching to BAY 81‐8973 from rFVIII‐FS can continue their dosing schedule with improved protection
por: Solms, Alexander, et al.
Publicado: (2020)

Skewed Inactivation of X Chromosome: A Cause of Hemophilia Manifestation in Carrier Females
por: Shoukat, Hafiz Muhammad Hassan, et al.
Publicado: (2020)

Thrombin generation and implications for hemophilia therapies: A narrative review
por: Sidonio, Robert F., et al.
Publicado: (2022)

Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients
por: Shen, Ming-Ching, et al.
Publicado: (2022)

Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization
por: Cassel, Aliza, et al.
Publicado: (2021)

Mode of delivery in hemophilia: vaginal delivery and Cesarean section carry similar risks for intracranial hemorrhages and other major bleeds
por: Andersson, Nadine G., et al.
Publicado: (2019)

Long‐term safety and efficacy of N8‐GP in previously treated pediatric patients with hemophilia A: Final results from pathfinder5
por: Šaulytė Trakymienė, Sonata, et al.
Publicado: (2020)

The safety and efficacy of N8-GP (turoctocog alfa pegol) in previously untreated pediatric patients with hemophilia A
por: Male, Christoph, et al.
Publicado: (2022)

Skewed X-chromosome inactivation in patients with esophageal carcinoma
por: Li, Gang, et al.
Publicado: (2013)

Genetic Architecture of Skewed X Inactivation in the Laboratory Mouse
por: Calaway, John D., et al.
Publicado: (2013)

Skewed X-inactivation is common in the general female population
por: Shvetsova, Ekaterina, et al.
Publicado: (2018)

Risk Factors for High-Titer Inhibitor Development in Children with Hemophilia A: Results of a Cohort Study
por: Halimeh, Susan, et al.
Publicado: (2013)

The small tellurium-based compound SAS suppresses inflammation in human retinal pigment epithelium
por: Dardik, Rima, et al.
Publicado: (2016)

A Longitudinal Twin Study of Skewed X Chromosome-Inactivation
por: Wong, Chloe Chung Yi, et al.
Publicado: (2011)

BEXCIS: Bayesian methods for estimating the degree of the skewness of X chromosome inactivation
por: Yu, Wen-Yi, et al.
Publicado: (2022)

Gene-Based Methods for Estimating the Degree of the Skewness of X Chromosome Inactivation
por: Li, Meng-Kai, et al.
Publicado: (2022)

Recombinant porcine factor VIII corrects thrombin generation in vitro in plasma from patients with congenital hemophilia A and inhibitors
por: Négrier, Claude, et al.
Publicado: (2022)

BAY 81-8973 Efficacy and Safety in Previously Untreated and Minimally Treated Children with Severe Hemophilia A: The LEOPOLD Kids Trial
por: Ljung, Rolf, et al.
Publicado: (2023)

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
por: Shaikh, M G, et al.
Publicado: (2008)

Skewed X-chromosomal inactivation impacts T regulatory cell function in systemic sclerosis
por: Broen, JCA, et al.
Publicado: (2010)

A statistical measure for the skewness of X chromosome inactivation based on family trios
por: Xu, Si-Qi, et al.
Publicado: (2018)

Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age
por: Zito, Antonino, et al.
Publicado: (2019)

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations
por: Usman, Muhammad, et al.
Publicado: (2023)

Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases
por: Chabchoub, Ghazi, et al.
Publicado: (2009)

A statistical measure for the skewness of X chromosome inactivation based on case-control design
por: Wang, Peng, et al.
Publicado: (2019)

Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II
por: Kim, Hwa Young, et al.
Publicado: (2022)

Age acquired skewed X chromosome inactivation is associated with adverse health outcomes in humans
por: Roberts, Amy L, et al.
Publicado: (2022)

SkewIT: The Skew Index Test for large-scale GC Skew analysis of bacterial genomes
por: Lu, Jennifer, et al.
Publicado: (2020)

Inhibitor incidence in an unselected cohort of previously untreated patients with severe hemophilia B: a PedNet study
por: Male, Christoph, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_7up2kd5l0hno8i0lrctt54lnc7