Results 261 to 270 of about 5,585,577 (379)
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Laparoscopic Retrieval of Foreign Body in the Kidney: An Unusual Case Report and Literature Review. [PDF]
Bedaiwi AK +6 more
europepmc +1 more source
TMC4 localizes to multiple taste cell types in the mouse taste papillae
Transmembrane channel‐like 4 (TMC4), a voltage‐dependent chloride channel, plays a critical role in amiloride‐insensitive salty taste transduction. TMC4 is broadly expressed in all mature taste cell types, suggesting a possible involvement of multiple cell types in this pathway.
Momo Murata +6 more
wiley +1 more source
Bilateral hypoplasia of the intracranial internal carotid arteries: A case report and literature review. [PDF]
Fu W, Zhang C, Liang Y, Deng D.
europepmc +1 more source
SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl +13 more
wiley +1 more source
A Rare Case of Malignant Phyllodes Tumor of the Breast in a Patient With a History of Recurrent Fibroadenomas: A Case Report and Literature Review. [PDF]
Vignaroli KA +4 more
europepmc +1 more source
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid +3 more
wiley +1 more source
Phytobezoar-An Unusual Cause of Small Bowel Obstruction in Pediatric Age Group: A Case Report and Literature Review. [PDF]
Pandit A, Koirala M, Panta A, Kandel N.
europepmc +1 more source

