Results 191 to 200 of about 49,600 (309)

P2-purigenic receptors regulate phospholipase C and adenylate cyclase activities in immortalized Schwann cells [PDF]

open access: green, 1996
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

open access: yesInternational Journal of Developmental Neuroscience, Volume 85, Issue 6, October 2025.
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

Spontaneous Malignant Peripheral Nerve Sheath Tumour in a Captive Rhesus Macaque (Macaca mulatta)

open access: yesJournal of Medical Primatology, Volume 54, Issue 5, October 2025.
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]

open access: yesBiomedicines
Martinez Moreno M   +7 more
europepmc   +1 more source

Functional Gap Junctions in the Schwann Cell Myelin Sheath [PDF]

open access: bronze, 1998
Rita J. Balice‐Gordon   +2 more
openalex   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

open access: yesAnnals of Neurology, Volume 98, Issue 3, Page 561-572, September 2025.
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

Home - About - Disclaimer - Privacy