Results 71 to 80 of about 136,615 (295)

Age effect on retina and optic disc normal values [PDF]

, 2005
Purpose: To investigate retinal thickness and optic disc parameters by the Retinal Thickness Analyzer (RTA) glaucoma program in older normal subjects and to determine any age effect.
Aljoscha S. Neubauer, Anselm Kampik, Azuara-Blanco A, Bozkurt B, Christoph Hirneiss, Christos Chryssafis, Emi K, Garway-Heath DF, Harwerth RS, Hee MR, Huang D, Ioannis Tsinopoulos, Jonas JB, Jonas JB, Jonas JB, Kerrigan-Baumrind LA, Mardin CY, Martin Thiel, Neubauer AS, Pires I, Sanchez-Tocino H, Saruhan A, Vijaya L, Zeimer R, Zeimer RC   +24 more
core   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]

, 2018
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F, Coutts, Alexander W, Dahiya, Sonika, Dombi, Eva, Fahrenkrug, Scott C, Fisher, James, Giovannini, Marco, Gutmann, David H, Isakson, Sara H, Kirstein, Mark N, Largaespada, David A, Messiaen, Ludwine, Moertel, Christopher L, Pluhar, G Elizabeth, Ratner, Nancy, Rizvi, Tilat, Rizzardi, Anthony E, Stemmer-Rachamimov, Anat O, Vitte, Jeremie, Watson, Adrienne L, Widemann, Brigitte C, Williams, Kyle B   +21 more
core   +2 more sources

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Robust and interpretable unit level causal inference in neural networks for pediatric myopia

npj Digital Medicine
Understanding causal mechanisms in deep learning is essential for clinical adoption, where interpretability and reliability are critical. Most existing AI systems act as black boxes, limiting transparency in medicine.
Zihui Jin, Mengtian Kang, Wuyan Zhao, Wenjin Gui, He Li, Yongfang Tu, Yongjun Huo, Canqing Yu, Weihua Song, Ningli Wang, Xu Yang, Shi-Ming Li   +11 more
doaj   +1 more source

TRPV1 Tunes Optic Nerve Axon Excitability in Glaucoma

Frontiers in Physiology, 2020
The transient receptor potential vanilloid member 1 (TRPV1) in the central nervous system may contribute to homeostatic plasticity by regulating intracellular Ca2+, which becomes unbalanced in age-related neurodegenerative diseases, including Alzheimer’s
Nolan R. McGrady, Michael L. Risner, Victoria Vest, David J. Calkins   +3 more
doaj   +1 more source

NKCC1: A key regulator of glioblastoma progression

Molecular Oncology, EarlyView.
Glioblastoma (GBM) progression is driven by disrupted chloride cotransporter homeostasis. NKCC1 is highly expressed in stem‐like, astrocytic, and progenitor cells, correlating with earlier recurrence, while overall survival remains unaffected. NKCC1 serves as a prognostic marker and potential therapeutic target, linking chloride transporter imbalance ...
Anja Thomsen, Diana Freitag, Madlen Haase, Christian Senft, Falko Schwarz, Silke Keiner   +5 more
wiley   +1 more source

Distribution of choline acetyltransferase (ChAT) immunoreactivity in the brain of the teleost cyprinus carpio [PDF]

, 2018
Cholinergic systems play a role in basic cerebral functions and its dysfunction is associated with deficit in neurodegenerative disease. Mechanisms involved in human brain diseases, are often approached by using fish models, especially cyprinids, given ...
Casini, Arianna, Cioni, Carla, Toni, Mattia, Vaccaro, Rosa   +3 more
core   +2 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Pharmacogenetics of ophthalmic topical β-blockers [PDF]

, 2008
Glaucoma is the second leading cause of blindness worldwide. The primary glaucoma risk factor is elevated intraocular pressure. Topical β-blockers are affordable and widely used to lower intraocular pressure.
McCarty, Catherine A., Patchett, Richard, Sidjanin, Duska J., Smith, Edward M., Wilke, Russell A.   +4 more
core   +1 more source