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
Incidence Proportions From Random-Effects Meta-Analyses of Rare Events With Large Cluster Heterogeneity, Including Sensitivity to the Normal Distribution Assumption. [PDF]
Dexter F, Sondekoppam R, Bayman EO.
europepmc +1 more source
Modeling observations with a detection limit using a truncated normal distribution with censoring. [PDF]
Williams JR, Kim HW, Crespi CM.
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
Obtaining a Bayesian Estimate of Coefficient Alpha Using a Posterior Normal Distribution. [PDF]
DelosReyes JMV, Padilla MA.
europepmc +1 more source
Expectation and variance of the estimator of the maximized selection response of linear selection indices with normal distribution. [PDF]
Cerón-Rojas JJ, Crossa J.
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 near normal distribution of IQ in Fragile X Syndrome. [PDF]
Schmitt LM +3 more
europepmc +1 more source
Transformation of Non-Normal Frequency Distributions Into Normal Distributions
openaire +3 more sources
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava +3 more
wiley +1 more source

