Results 141 to 150 of about 4,051 (207)
Frontiers in GeneticsBackgroundAlkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by homogentisate 1,2-dioxygenase (HGD) deficiency, leading to pigment deposition and progressive ochronotic arthropathy (OchA), which may mimic chronic inflammatory or ...
Zhicheng Liu +9 more
doaj +1 more source
The benefits of exploiting rare genetic disorders to better understand human health and disease [PDF]
, 2016 Tee, Andrew
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Functional amyloid formation in LPS activated cells from invertebrates to vertebrates [PDF]
, 2014 LPS stimulation provokes serious cellular stress with an increase of cytoplasmic reactive oxygen species (ROS). We have investigated, among the different cellular defenses, amyloidogenesis as common physiological response to attenuate oxidative stress ...
de Eguileor, M. +7 more
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Ochronotic Arthropathy of the Shoulder – A Rare Case Report
Journal of Orthopaedic Case ReportsIntroduction: Alkaptonuria is a metabolic disorder due to accumulation of homogentisic acid, leading to destruction of major joints. Very few cases of ochronosis with shoulder involvement have been reported in literature. Case Report: We report a 31-year-
Ayyappan V Nair +5 more
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Clinical Genetics in Britain: Origins and development [PDF]
, 2010 Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
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Proteomic analysis of osteoblasts secretome provides new insights in mechanisms underlying osteoarthritis subchondral bone sclerosis [PDF]
, 2018 Comblain, Fanny +5 more
core +1 more source