Results 201 to 210 of about 42,400 (289)

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Guiseppa de Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source

Bilateral Adrenal Calcifications as an Imaging Clue to Wolman Disease in Early Infancy: A Case Report. [PDF]

Cureus
Niño JC, Caicedo CA, Cárdenas J.
europepmc   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions. [PDF]

Traffic
Jiang S, Fu J, Li S, Li Z, Zhao Q, Yin Y, Yang M, Wang Y.   +7 more
europepmc   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

A new glucocerebrosidase chaperone reduces α-synuclein and glycolipid levels in iPSC-derived dopaminergic neurons from patients with gaucher disease and parkinsonism [PDF]

, 2016
et al,, Fujiwara, Hideji, Ory, Daniel S, Sidhu, Rohini   +3 more
core   +1 more source

Genetic Susceptibility to Periodontitis

Journal of Periodontal Research, EarlyView.
Aim: The aim of this narrative review was to identify genes carrying risk alleles associated with an increased risk of periodontitis and to place them in a biological context. Methods: The literature was reviewed based on predefined criteria. Results: The identified genes largely fall into functions linking immune response with tissue repair. The genes
Gesa M. Richter, Arne S. Schaefer
wiley   +1 more source

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study [PDF]

, 2016
et al,, Pestronk, Alan
core   +1 more source

The Role of Oxidative Stress in Periodontitis

Journal of Periodontal Research, EarlyView.
Oxidative stress is involved in multiple chemical reactions that take place in different intracellular organelles: mitochondria, rough endoplasmic reticulum, peroxisomes, autophagy, and aging, and can be influenced by exogenous factors: nutrition, physical activity, psychological status, environmental conditions, microbiome, and drugs.
Pedro Bullon, Francesca Giampieri, Beatriz Bullon, Maurizio Battino   +3 more
wiley   +1 more source