Results 221 to 230 of about 1,556,401 (272)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

open access: yesFEBS Open Bio, EarlyView.
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

A Roadmap for Accelerating Research in Intellectual and Developmental Disabilities Using PCORnet®. [PDF]

open access: yesMed Care
Franklin MS   +14 more
europepmc   +1 more source

ATP13A2 is involved in intracellular polyamine transport in lung epithelial cells

open access: yesFEBS Open Bio, EarlyView.
Spermidine transport in lung epithelial cells involves the polyamine transporter ATP13A2. Cell proliferation is associated with the upregulation of ATP13A2. Polyamines are present in all living cells and are implicated in various crucial cellular processes such as proliferation, apoptosis and autophagy.
Yuta Hatori   +8 more
wiley   +1 more source

TMC4 localizes to multiple taste cell types in the mouse taste papillae

open access: yesFEBS Open Bio, EarlyView.
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

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

open access: yesFEBS Open Bio, EarlyView.
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

Evaluation of in vitro toxicity of common phytochemicals included in weight loss supplements using 1H NMR spectroscopy

open access: yesFEBS Open Bio, EarlyView.
We investigated the toxicity of 12 active compounds commonly found in herbal weight loss supplements (WLS) using human liver and colon cell models. Epigallocatechin‐3‐gallate was the only compound showing significant toxicity. Metabolic profiling revealed protein degradation, disrupted energy and lipid metabolism suggesting that the inclusion of EGCG ...
Emily C. Davies   +3 more
wiley   +1 more source

Patient-reported outcome measures for use in patients with alpha-1-antitrypsin deficiency: results of a systematic selection process. [PDF]

open access: yesBMJ Open Respir Res
Müller K   +9 more
europepmc   +1 more source

It is all about value now: The data you need to collect and how to do it [PDF]

open access: yes, 2018
Bozic, Kevin J   +3 more
core   +1 more source

KLK7 overexpression promotes an aggressive phenotype and facilitates peritoneal dissemination in colorectal cancer cells

open access: yesFEBS Open Bio, EarlyView.
KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani   +6 more
wiley   +1 more source

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