Results 141 to 150 of about 54,719 (217)
Hemostasis and Type 1 Neurofibromatosis
Jeremy Niddam, MD +4 more
doaj +1 more source
LKB1–AMPK Signaling Pathway in Cardiovascular and Other Diseases
The LKB1–AMPK pathway has a central regulatory role in various diseases. Dysfunction of this pathway can lead to pathological processes in cardiovascular diseases (atrial fibrillation, myocardial infarction, myocardial hypertrophy, atherosclerosis), metabolic diseases (diabetes and kidney disease), neurodegenerative diseases (Alzheimer's disease ...
Zhuo Chen, Qin Yang, Guo‐Wei He
wiley +1 more source
Our findings indicate that a pediatric/AYA‐specific targeted panel deployed in a hospital can deliver rapid, clinically actionable molecular insights with high diagnostic and prognostic yield. This complements larger sequencing platforms by offering speed, focused content, and easier interpretation.
Masato Kojima +8 more
wiley +1 more source
Merlin Phosphorylation by p21-activated Kinase 2 and Effects of Phosphorylation on Merlin Localization [PDF]
The Nf2 tumor suppressor gene product merlin is related to the membrane-cytoskeleton linker proteins of the band 4.1 superfamily, including ezrin, radixin, and moesin (ERMs). Merlin is regulated by phosphorylation in a Rac/cdc42-dependent fashion.
Eckman, Matthew S. +3 more
core +1 more source
Background Neurofibromatosis type 1 is a neurocutaneous genetic disorder caused by mutations in the NF1 gene, resulting in the formation of benign tumors called neurofibromas.
Imen Sassi +4 more
doaj +1 more source
Neurofibromatosis type 1 with unusual oral manifestations
Neurofibromatosis (NF) is a genetically transmitted autosomal dominant disorder with variable penetrance and about 50% of cases representing new mutations.
Raghavendra Kini +4 more
doaj
[Pheochromocytoma in Neurofibromatosis Type 1]. [PDF]
Rebrova DV +17 more
europepmc +1 more source
Neurofibromatosis type 1 with unilateral macrodactyly-like overgrowth: a case report. [PDF]
Klaus L +6 more
europepmc +1 more source

