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i(8)(q10) in ALL
Get PDFIsochromosomes are nonrandom chromosomal anomalies in acute lymphoblastic leukemia (ALL), but relatively few patients ALL and i(8)(q10) have been reported. In the majority of cases, i(8)(q10) was part of complex karyotypes, suggesting that it is a secondary chromosomal abnormality in ALL associated with clonal evolution
Myelodysplastic/myeloproliferative neoplasms
Get PDFOverview of myelodysplastic/myeloproliferative neoplasms detailing clinical, pathologic, cytogenetic, and molecular findings
t(11;17)(q23;q21) KMT2A/ACACA
Get PDFReview on t(11;17)(q23;q21), with data on clinics, and the genes involved
PNP (Purine Nucleoside Phosphorylase)
Get PDFThe purine nucleoside phosphorylase gene (PNP) encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. PNP is ubiquitously expressed in mammalian cells and tissues. PNP mutations cause nucleoside phosphorylase deficiency which result in defective T cell mediated immunity but can also affect B cell immunity and antibody responses
t(10;14)(q24;q32) NFKB2/IGH
Get PDFReview on t(10;14)(q24;q32) NFKB2/IGH, with data on clinics, and the genes involved
t(11;19)(q23;p13) KMT2A/MYO1F
Get PDFReview on t(11;19)(q23;p13), with data on clinics, and the genes involved
The bases of reflexotherapy : 1. Embryology
Get PDFAncien chargé de recherche du Dr René Bourdiol, au sein du Groupe d’Etude en Médecine Manuelle et Réflexe, le G.E.M.M.E.R., le docteur Philippe Malafosse a passé les connaissances acquises et les hypothèses émises au filtre de son activité professionnelle. Cette dernière se déroule aussi bien en cabinet privé qu’en milieu hospitalo-universitaire ainsi que dans le sport professionnel. Pour asseoir une pratique, il faut des bases solides, fiables, et validées. C’est la raison pour laquelle l’embryologie, l’anatomie et la physiologie seront les piliers des communications sur les fondements des réflexothérapies.Former research fellow in Dr René Bourdiol’s group, Doctor Philippe Malafosse checked his knowledge through his professional activity, in his office, in hospital setting, in university and in high level sport. To confirm a practice, strong accurate and validated foundations are needed. Embryology, anatomy and physiology will be the pillars of communication about reflexotherapy
PALB2 (partner and localizer of BRCA2)
Get PDFPALB2 (Partner and Localizer of BRCA2) was first identified as a BRCA2-interacting protein. Subsequently, PALB2 has been recognized as a cog in the cellular machinery for DNA repair by homologous recombination (HR). PALB2 also mediates S and G2 DNA damage checkpoints, and has an apparent function in protecting transcriptionally active genes from genotoxic stress. PALB2 also interacts with, is localized by, and functions downstream of BRCA1. Further, PALB2 interacts with other essential effector