Microphthalmia‐associated transcription factor mutations are associated with white‐spotted coat color in swamp buffalo [PDF]
, 2015 Yulnawati Yusnizar +7 more
openalex +1 more source
Autophagosome marker, LC3, is released extracellularly via several distinct pathways
FEBS Open Bio, EarlyView.This study establishes a novel HiBiT‐tagging system for ultrasensitive detection of LC3, revealing multiple pathways for its extracellular secretion. It demonstrates that LC3 is released via both autophagy‐dependent and ‐independent mechanisms, including a novel route for nonlipidated LC3‐I.
Koki Saito +3 more
wiley +1 more source
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies
Frontiers in Neurology, 2019 The white matter disease spectrum is associated with many genetic diseases, including AARS2, CADASIL, ALD, and others. In this study, to determine the novel alanyl-tRNA synthetase 2 mutation implicated in white matter disease, several families with an ...
Xingao Wang +21 more
doaj +1 more source
DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling
FEBS Open Bio, EarlyView.Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang +7 more
wiley +1 more source
Functional analysis of KIT gene structural mutations causing porcine dominant white phenotype by using genome edited mouse models [PDF]
, 2019 Guangjie Sun +9 more
openalex +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS 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
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features [PDF]
, 2019 Amin Ziaei +11 more
openalex +1 more source
FEBS 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
LETHALITY PATTERNS AND MORPHOLOGY OF SELECTED LETHAL AND SEMI-LETHAL MUTATIONS IN THE ZESTE-WHITE REGION OF DROSOPHILA MELANOGASTER [PDF]
, 1972 M P Shannon +3 more
openalex +1 more source
Mapping and CRISPR homology-directed repair of a recessive white eye mutation in Plodia moths [PDF]
, 2022 Christa Heryanto +4 more
openalex +1 more source