P2-purigenic receptors regulate phospholipase C and adenylate cyclase activities in immortalized Schwann cells [PDF]
Liliana N. Berti‐Mattera+3 more
openalex +1 more source
Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene
Initial germline NF1 splice‐site mutation c.3113 + 1G > A followed by tumour‐specific somatic second‐hit mutation c.2033dup (p.Ile679Aspfs*21) exemplifies Knudson's two‐hit hypothesis, driving uncontrolled cell proliferation. ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, with plexiform neurofibromas occurring in ...
Song Su+7 more
wiley +1 more source
Unveiling the Role of Schwann Cell Plasticity in the Pathogenesis of Diabetic Peripheral Neuropathy. [PDF]
Abd Razak NH+5 more
europepmc +1 more source
Prosaptide activates the MAPK pathway by a G‐protein‐dependent mechanism essential for enhanced sulfatide synthesis by Schwann cells [PDF]
W. Marie Campana+2 more
openalex +1 more source
Spontaneous Malignant Peripheral Nerve Sheath Tumour in a Captive Rhesus Macaque (Macaca mulatta)
ABSTRACT Spontaneous peripheral nerve sheath tumors (PNSTs) are rare and often benign neoplasms in veterinary species and humans. This report describes the clinical, gross, histopathological, and immunological findings of a spontaneous malignant PNST embedded deep within the soft tissue in the forearm of a 4‐year‐old captive male rhesus macaque (Macaca
Marietta V. Barro+4 more
wiley +1 more source
Role of the Egr2 Promoter Antisense RNA in Modulating the Schwann Cell Chromatin Landscape. [PDF]
Martinez Moreno M+7 more
europepmc +1 more source
Functional Gap Junctions in the Schwann Cell Myelin Sheath [PDF]
Rita J. Balice‐Gordon+2 more
openalex +1 more source
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker+79 more
wiley +1 more source
Immortalized Schwann cell lines as useful tools for pathogenesis-based therapeutic approaches to diabetic peripheral neuropathy. [PDF]
Sango K, Yako H, Niimi N, Takaku S.
europepmc +1 more source