Adelec S.A.Business Directories,Company Directories

Company Name: Corporate Name:	Adelec S.A.
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Company Address:	31, Rue Hamelin,93440 Dugny,,France
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Germline Jak2-R1063H mutation interferes with normal . . . - Nature
We previously identified the JAK2-R1063H germline variant, which contributes to hereditary MPN and increased disease severity in essential thrombocythemia
Expression of Jak2 R1063H Leads to Altered Epor Tpor Signaling, Changes . . .
In conclusion, our results confirm a direct effect of germline Jak2 R1063H mutation on EpoR TpoR signaling but also on HSC biology, suggesting that the variant may represent a risk factor for BM remodeling in the process of myeloid cell transformation
JAK2 Mutation-Related Disease and Thrombosis - The Blood Project
JAK2 ective validation has not been provided yet In this review, we discuss about potential mechanisms that link mutated JAK2 with the thrombotic propensity of MPN and the clinical correlates; hopefully, novel informati
Germline Jak2-R1063H mutation interferes with normal hematopoietic . . .
Our study, which involves a mouse model and a cohort of 200 MPN patients, characterizes the JAK2-R1063H germline mutation as a risk factor for MPN development, thrombotic complications, and leukemic transformation
Co-occurring JAK2 V617F and R1063H mutations increase JAK2 signaling . . .
Fourteen out of 390 JAK2 V617F-positive MPN patients were found to carry concurrently JAK2 V617F and R1063H mutations
Myeloproliferative neoplasms: caused by somatic activating JAK STAT . . .
Pathogenic truncating mutations in CSF3R have been reported in myeloid neoplasms but the VAF of this variant is more suspicious of a germline variant
Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary . . .
Because the germ line JAK2 mutations emerged as the main disease-causing event in our patient, we created a cellular model: Ba F3-EPOR cells expressing JAK2_E846D and JAK2_R1063H
Germline Jak2-R1063H mutation interferes with normal hematopoietic . . .
Our study, which involves a mouse model and a cohort of 200 MPN patients, characterizes the JAK2 -R1063H germline mutation as a risk factor for MPN development, thrombotic complications, and leukemic transformation
THROMBOTIC COMPLICATIONS OF CHRONIC MYELOPROLIFERATIVE NEOPLASMS
etinal veins, DVT of lower limbs, and pulmonary thromboembolism The incidence of such complications in MPN is similar to the percentage of thrombotic events in the general population 15 MPN cases diagnosed with Budd-Chiari syndrome present a higher incidence of this mutation compared to MPN patients with DVT 13 Arterial thrombosis is more