Associated Papers
Atypical teratoid rhabdoid tumor with extraneural metastases: a case report with genomic analysis.
Yaqoob N et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Autophagosome-lysosome mediated secretion of the thrombopoietin receptor is modulated by distinct driver mutations of myeloproliferative neoplasm.
Chowdhury S et al.
Leukemia, 2025
Biallelic OSM deficiency presents with juvenile myelodysplastic syndrome and response to treatment.
Alfalah AH et al.
The Journal of Clinical Investigation, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.
Mir R et al.
Discovery Medicine, 2024
Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study.
Alsehli H et al.
Scientific Reports, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Outcome heterogeneity of TP53-mutated myeloid neoplasms and the role of allogeneic hematopoietic cell transplantation.
Pasca S et al.
Haematologica, 2024
Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.
Borsani O et al.
Experimental Hematology, 2024
Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.
Kimura H et al.
Annals of Hematology, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.
Kimura H et al.
Platelets, 2023
In Silico Evaluation of Coding and Non-Coding nsSNPs in the Thrombopoietin Receptor (MPL) Proto-Oncogene: Assessing Their Influence on Protein Stability, Structure, and Function.
Al-Nakhle HH et al.
Current Issues in Molecular Biology, 2023
Structure of the thrombopoietin-MPL receptor complex is a blueprint for biasing hematopoiesis.
Tsutsumi N et al.
Cell, 2023
Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients.
Al-Jumaan M et al.
Genome Medicine, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Structural modeling of cytokine-receptor-JAK2 signaling complexes using AlphaFold Multimer.
Pogozheva ID et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic basis and molecular profiling in myeloproliferative neoplasms.
Luque Paz D et al.
Blood, 2023
Clonal evolution in hereditary thrombocytosis with MPL T487A mutation.
Vasseur L et al.
Pediatric Blood & Cancer, 2023
Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis.
Alzahrani M et al.
Platelets, 2022
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
Qatar genome: Insights on genomics from the Middle East.
Mbarek H et al.
Human Mutation, 2022
Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.
Andrés-Zayas C et al.
Molecular Oncology, 2021
Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation-associated familial thrombocytosis: a review of 64 paediatric and adult patients.
Al-Harbi T et al.
British Journal of Haematology, 2021
Hereditary thrombocytosis: the genetic landscape.
Han EY et al.
British Journal of Haematology, 2021
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Stockklausner C et al.
Annals of Hematology, 2021
Molecular pathogenesis of the myeloproliferative neoplasms.
Greenfield G et al.
Journal of Hematology & Oncology, 2021
Functional Consequences of Mutations in Myeloproliferative Neoplasms.
Constantinescu SN et al.
Hemasphere, 2021
The Thrombopoietin Receptor, MPL, Is a Therapeutic Target of Opportunity in the MPN.
Spivak JL et al.
Frontiers in Oncology, 2021
C-Cbl regulates c-MPL receptor trafficking and its internalization.
Märklin M et al.
Journal of Cellular and Molecular Medicine, 2020
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Novel drivers and modifiers of MPL-dependent oncogenic transformation identified by deep mutational scanning.
Bridgford JL et al.
Blood, 2020
Thrombopoietin is required for full phenotype expression in a JAK2V617F transgenic mouse model of polycythemia vera.
Spivak JL et al.
Plos One, 2020
Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.
McMullin MF
Hematology. American Society of Hematology. Education Program, 2019
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
Concomitant and noncanonical JAK2 and MPL mutations in JAK2V617F- and MPLW515 L-positive myelofibrosis.
Schulze S et al.
Genes, Chromosomes & Cancer, 2019
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 2019
Calreticulin mutants as oncogenic rogue chaperones for TpoR and traffic-defective pathogenic TpoR mutants.
Pecquet C et al.
Blood, 2019
Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.
Al-Dewik N et al.
Gene, 2019
MPL Y252H anMd PL F126fs mutations in essential thrombocythemia: Case series and review of literature.
Elsayed AG et al.
Hematology Reports, 2019
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
Alsultan A et al.
Genetic Testing and Molecular Biomarkers, 2018
Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.
Rumi E et al.
British Journal of Haematology, 2017
The Thrombopoietin Receptor: Structural Basis of Traffic and Activation by Ligand, Mutations, Agonists, and Mutated Calreticulin.
Varghese LN et al.
Frontiers in Endocrinology, 2017