Results 211 to 220 of about 21,042 (237)

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder. [PDF]

JIMD Rep
Sabir MS, Pollard L, Wolfe L, Adams DR, Ciccone C, Leoyklang P, Platt FM, Huizing M, Gahl WA, Malicdan MCV.   +9 more
europepmc   +1 more source

Pleiotropy and the Increasing Complexity of Parkinson's Disease Genetics. [PDF]

Ann Neurol
Kim J, Shulman JM.
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

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management. [PDF]

JIMD Rep
Terrell A, Sapp K, Graham B, McPheron M, Wetherill L.   +4 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

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

D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders

Maria De Risi, Linda Cusimano, Xabier Bujanda Cundin, Mariateresa Pizzo, Ylenia Gigante, Mariagrazia Monaco, Chiara Di Eugenio, Elvira De Leonibus   +7 more
openalex   +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

Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty. [PDF]

Clin Case Rep
Khadayat R, Tuladhar S, Kc SR, Shresth B, Shrestha S, Gautam T, Basnet R, Thapa S, Magrati D.   +8 more
europepmc   +1 more source

Muscle wasting in cancer cachexia: Mechanisms and the role of exercise

Experimental Physiology, EarlyView.
Abstract Cancer cachexia (CC) is a multifactorial disease marked by a severe and progressive loss of lean muscle mass and characterized further by inflammation and a negative energy/protein balance, ultimately leading to muscle atrophy and loss of muscle tissue.
Zoe P. Libramento, Louisa Tichy, Traci L. Parry   +2 more
wiley   +1 more source