Results 211 to 220 of about 42,118 (292)

Drug induced phospholipidosis: an acquired lysosomal storage disorder. [PDF]

Biochim Biophys Acta, 2013
Shayman JA, Abe A.
europepmc   +1 more source

A practical framework to approach the development and evaluation of patient registries for rare diseases. [PDF]

Orphanet J Rare Dis
Vaishnaw MS, Richesson R.
europepmc   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency. [PDF]

J Inherit Metab Dis
Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G.   +20 more
europepmc   +1 more source

Antibiotic‐mediated immune modulation in periodontitis

Periodontology 2000, EarlyView.
Abstract Periodontitis is a chronic inflammatory disease affecting the supporting structures of the teeth. Although initiated by dysbiotic microbial communities, its progression is largely driven by the host's uncontrolled inflammatory response. While antibiotics have conventionally been employed in periodontitis therapy for their antimicrobial ...
Lina J. Suárez, R. M. Arce, Camila Pinheiro Furquim, Cristiane Gonçalves, Alpdogan Kantarci, Magda Feres, Nidia C. Castro dos Santos   +6 more
wiley   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

Locomotor muscle dysfunction and rehabilitative exercise training in fibrotic interstitial lung disease: Where are we at and where could we go?

Experimental Physiology, EarlyView.
Abstract Exercise limitation is a cardinal feature of fibrotic interstitial lung disease arising from pulmonary gas exchange, respiratory mechanical and cardio‐circulatory abnormalities. More recently, it has been recognized that impairment in locomotor muscle function (e.g., reduced muscle mass/strength or heightened fatigability) might also play a ...
Sarah Thivent, J. Alberto Neder, Anne‐Catherine Bernard, Marie Coudurier, Michel Guinot, Frédéric Hérengt, Samuel Verges, Mathieu Marillier   +7 more
wiley   +1 more source

Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in <i>AP3B1</i> and <i>TRAPPC9</i>. [PDF]

Genes (Basel)
Then A, Welly R, Bullock G, Chevallier L, Katz ML.   +4 more
europepmc   +1 more source

PEG-lipid micelles enable cholesterol efflux in Niemann-Pick Type C1 disease-based lysosomal storage disorder. [PDF]

Sci Rep, 2016
Brown A, Patel S, Ward C, Lorenz A, Ortiz M, DuRoss A, Wieghardt F, Esch A, Otten EG, Heiser LM, Korolchuk VI, Sun C, Sarkar S, Sahay G.   +13 more
europepmc   +1 more source

Role of RIPK1/RIPK3/MLKL signalling pathway in sepsis‐associated acute kidney injury

Experimental Physiology, EarlyView.
Abstract Sepsis‐associated acute kidney injury (SA‐AKI) is a common clinical syndrome in critically ill patients, and its high mortality rate is closely related to complex pathological mechanisms. Existing studies have shown that the pathophysiological process of SA‐AKI involves complex multi‐mechanism interactions, including an uncontrolled systemic ...
Huijun Yin, Jingyi Wang, Huirong Han
wiley   +1 more source