Results 181 to 190 of about 42,109 (300)
Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Su Liu,1,2,* Jun-Li Yao,1,3,* Xin-Xin Wan,1,* Zhi-Jing Song,1 Shuai Miao,1,2 Ye Zhao,1,2 Xiu-Li Wang,1,2 Yue-Peng Liu4 1Jiangsu Province Key Laboratory of Anesthesiology, Xuzhou Medical University, Xuzhou, Jiangsu, China; 2Department of Anesthesiology ...
Liu Y +7 more
core
Novel genes regulated by Sonic Hedgehog in pluripotent mesenchymal cells
Sonic Hedgehog is a secreted morphogen involved in patterning a wide range of structures in the developing embryo. Disruption of the Hedgehog signalling cascade leads to a number of developmental disorders and plays a key role in the formation of a range
Forrest, A. R. +9 more
core +1 more source
Plaque‐type trichoblastoma and its siblings: A (follicular tumour) family history
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Ines Bertlich +4 more
wiley +1 more source
Etymology and entomology: The semiotics and ethics of multispecies gene nomenclatures
Abstract This article examines controversies surrounding gene names that are perceived as humorous in the context of fruit flies but are considered rude in the clinical context of human medicine. Drawing on ethnographic fieldwork in insect laboratories, interviews with entomologists and geneticists, and an analysis of scientific and clinical ...
Colin M. E. Halverson
wiley +1 more source
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski +9 more
wiley +1 more source
The role of GLI2 in human basal cell carcinoma tumourigenesis
PhDAbnormal Sonic Hedgehog (SHH) signalling leads to increased transcriptional activation of its downstream effector, GLI2, which is implicated in the pathogenesis of a variety of human tumours, including human basal cell carcinoma (BCC).
Pantazi, Eleni
core
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria +1 more
wiley +1 more source
Sonic Hedgehog and Bone Morphogenetic Protein Regulate Interneuron Development from Dorsal Telencephalic ProgenitorsIn Vitro [PDF]
Alexandra Gulácsi, Laura Lillien
openalex +1 more source

