Results 201 to 210 of about 21,042 (237)

Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque

International Journal of Dermatology, EarlyView.
ABSTRACT Stiff skin syndrome (SSS) is a rare connective tissue disease manifesting as a progressive, non‐inflammatory fibrosis that causes the skin and soft tissues to harden. It can result in restricted joint movement, particularly affecting the shoulder and pelvic girdle. A segmental variant with a better prognosis has been described.
Marian Fernández Martínez, Frida Paola Rivera Lira, Rodrigo Roldán‐Marín, Sonia Toussaint‐Caire   +3 more
wiley   +1 more source

Economic burden of Sanfilippo syndrome in the United States. [PDF]

Arch Public Health
Ashby F, Park H, Svensson M, Heldermon CD.   +3 more
europepmc   +1 more source

Nbeal2 Inactivation Triggers Abl1 Stabilisation and Dysregulated Subcellular Localisation of the Multi‐Drug‐Resistant Protein MDR1 (ABCB1) in Mast Cells

Immunology, EarlyView.
(A) Proposed model for Abl1 degradation via Nbeal2. Nbeal2 interacts with Abl1 with its WDR domain. This results in proteasomal degradation by a yet unidentified ubiquitin ligase. Therefore, Nbeal2 inactivation stabilises Abl1, which supports mast cell (MC) degeneration. (B) In wt MCs, the Abl1 protein level is controlled by Nbeal2. Furthermore, Nbeal2
Raphaela Marquardt, Nico Andreas, Ronja Herrnberger, Claudia Küchler, Katrin Hornung, Bernhard Nieswandt, Marco Groth, Paul M. Jordan, Oliver Werz, Julia Drube, Sebastian Drube   +10 more
wiley   +1 more source

A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders

, 2015
Jeffrey A. Rappaport, Rachel L. Manthe, Melani Solomon, Carmen Garnacho, Silvia Muro   +4 more
openalex   +2 more sources

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

Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model. [PDF]

MicroPubl Biol
Sabir MS, Huizing M, Gahl WA, Platt FM, Malicdan MCV.   +4 more
europepmc   +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

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. [PDF]

PLoS One, 2015
Clark LN, Chan R, Cheng R, Liu X, Park N, Parmalee N, Kisselev S, Cortes E, Torres PA, Pastores GM, Vonsattel JP, Alcalay R, Marder K, Honig LL, Fahn S, Mayeux R, Shelanski M, Di Paolo G, Lee JH.   +18 more
europepmc   +1 more source

Target of rapamycin signaling in pea embryos is dependent on glutamine but detached from seed storage protein biosynthesis

New Phytologist, EarlyView.
Summary Target of rapamycin (TOR) kinase is the hub of a eukaryotic master signaling network that integrates nutritional and hormonal signals into cellular activities. Most studies on TOR in plants have focused on seedlings, where TOR is most responsive to light and sucrose.
Brendan M. O'Leary, Suvi Honkanen, Vinti Kumari, Christoph Rampitsch, Eiji Nambara, A. Harvey Millar   +5 more
wiley   +1 more source

High‐Efficiency and Eco‐Friendly Management of Multiple Fungal Diseases by a Novel Carbon Dots sCDP Delivered RNA Nano‐Pesticides

Plant Biotechnology Journal, EarlyView.
ABSTRACT RNA‐based pesticides represent a transformative approach in agricultural disease management, offering an environmentally sustainable alternative to conventional chemical fungicides. However, key challenges such as rapid RNA degradation in the environment and inefficient uptake hinder widespread adoption.
Chunhao Jiang, Jijie Cui, Yumeng Wang, Ziyi Zhang, Yi Yang, Tao Tang, Junjie Wang, Daijing Li, Zihan Zhao, Kuaibing Wang, Dongdong Niu   +10 more
wiley   +1 more source