BMC Medical Genetics, 2020 Background Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variable penetrance.
Sarah K. Macklin- Mantia +7 more
doaj +1 more source
Olfactory Neuroblastoma: Surgical Treatment Experience of 42 Cases
Frontiers in Surgery, 2022 ObjectiveOur purpose was to estimate the safety and effectiveness of the endoscopic endonasal approach (EEA) in olfactory neuroblastoma (ONB) and determine whether preservation of the dura and olfactory bulb could be considered in selected patients ...
Xiao Cai +23 more
doaj +1 more source
Image findings of cranial nerve pathology on [18F]-2- deoxy-D-glucose (FDG) positron emission tomography with computerized tomography (PET/CT): a pictorial essay. [PDF]
, 2015 This article aims to increase awareness about the utility of (18)F -FDG-PET/CT in the evaluation of cranial nerve (CN) pathology. We discuss the clinical implication of detecting perineural tumor spread, emphasize the primary and secondary (18)F -FDG-PET/
Muzaffar, Razi +3 more
core +1 more source
Hippocampal neuronal cells that accumulate α-synuclein fragments are more vulnerable to Aβ oligomer toxicity via mGluR5--implications for dementia with Lewy bodies. [PDF]
, 2014 BackgroundIn dementia with Lewy bodies (DLB) abnormal interactions between α-synuclein (α-syn) and beta amyloid (Aβ) result in selective degeneration of neurons in the neocortex, limbic system and striatum.
Cartier, Anna +9 more
core +3 more sources
Physiological Electrical Signals Promote Chain Migration of Neuroblasts by Up-Regulating P2Y1 Purinergic Receptors and Enhancing Cell Adhesion [PDF]
, 2014 Acknowledgments This work was supported by a grant from NHS Grampian. Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the ...
Cao, Lin +4 more
core +2 more sources
Molecular Aspects of Secretory Granule Exocytosis by Neurons and Endocrine Cells [PDF]
, 1994 Neuronal communication and endocrine signaling are fundamental for integrating the function of tissues and cells in the body. Hormones released by endocrine cells are transported to the target cells through the circulation.
Ahnert-Hilger G. +28 more
core +1 more source
Medicina, 2020 A possible cause of hypophosphatemia is paraneoplastic secretion of fibroblast growth factor 23 (FGF-23). Tumors secreting FGF-23 are rare, mostly of mesenchymal origin, usually benign, and may be located anywhere in the body, including hands and feet ...
Cornelia Then +6 more
doaj +1 more source
Delivery of the 135kb human frataxin genomic DNA locus gives rise to different frataxin isoforms [PDF]
, 2015 © 2015 Elsevier Inc. Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression ...
Díaz-Nido, Javier +4 more
core +1 more source
Craniofacial resection due to esthesioneuroblastoma: A case report
Turkish Archives of Otorhinolaryngology, 2011 Esthesioneuroblastoma is a rare, malignant tumor originating from the olfactory neuroepithelium in the nasal cavity. This tumor has been called olfactory neuroblastoma, olfactory esthesioneuroblastoma and neuroendocrine carcinoma in the literatüre ...
Muhlis Bal +5 more
doaj +1 more source
Effects of Tributyltin Chloride on Human Neuronal Differentiation and Mice Brain Development
Environmental Toxicology, EarlyView.ABSTRACT According to the developmental origins of health and disease hypothesis, perinatal exposure to an environmental toxicant during the development of the nervous system could cause a permanent cellular modification that may promote the appearance of neurodegenerative diseases at an older age.
Ester López‐Gallardo +10 more
wiley +1 more source