Results 181 to 190 of about 42,109 (300)

Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

open access: yesClinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.
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

Sonic hedgehog signaling in spinal cord contributes to morphine-induced hyperalgesia and tolerance through upregulating brain-derived neurotrophic factor expression

open access: yes, 2018
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

open access: yes, 2002
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

open access: yes
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

open access: yesJournal of Linguistic Anthropology, Volume 36, Issue 2, August 2026.
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

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

open access: yesPediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
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

open access: yes, 2010
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  

Primary cilia–extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential

open access: yesAlzheimer's &Dementia, Volume 22, Issue 7, July 2026.
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

Home - About - Disclaimer - Privacy