Results 31 to 40 of about 4,051 (207)
A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria [PDF]
, 2016 Objectives Alkaptonuria is a rare autosomal recessive condition resulting from inability to breakdown homogentisic acid (HGA); an intermediate in tyrosine degradation.
Bukhari, Marwan +3 more
core +1 more source
A Kuhnian revolution in molecular biology: Most genes in complex organisms express regulatory RNAs
BioEssays, Volume 45, Issue 9, September 2023., 2023 Abstract Thomas Kuhn described the progress of science as comprising occasional paradigm shifts separated by interludes of ‘normal science’. The paradigm that has held sway since the inception of molecular biology is that genes (mainly) encode proteins.
John S. Mattick
wiley +1 more source
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? [PDF]
, 2016 The hypothesis that is proposed is that tyrosinase, an enzyme widely found within the human body is implicated in the ochronosis that occurs in alkaptonuria; an autosomal recessive condition first used by Archibald Garrod to describe the theory of ...
Bleakley, Aaron +2 more
core +1 more source
Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients
International Journal of Molecular Sciences, 2023 Nitisinone has been approved for treatment of alkaptonuria (AKU). Non-invasive biomarkers of joint tissue remodelling could aid in understanding the molecular changes in AKU pathogenesis and how these can be affected by treatment. Serological and urinary
F. Genovese +8 more
semanticscholar +1 more source
Clinical Case Reports, Volume 11, Issue 9, September 2023., 2023 Key Clinical Message In this case report, total knee arthroplasty was performed in a patient with pigmented villonodular synovitis. During surgery, severe black discoloration of the articular cartilage and menisci was observed in the patient. According to literatures, this is the first case report of severe articular cartilage pigmentation in a patient
Mohammad Ayati Firoozabadi +4 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 806-816, September 2023., 2023 Abstract Medicine development for rare diseases, including inborn errors of metabolism (IEMs) is challenging. Many academic innovations fail to reach the patient, either by stranding in the translational stage or due to suboptimal patient access related to pricing or uncertain effectiveness.
Noa Rosenberg +8 more
wiley +1 more source
Frontiers in Surgery, 2023 Introduction Alkaptonuria is a rare autosomal recessive metabolic disorder which leads to accumulation of homogentisic acid in the body. Case Presentation We report a rare case of an alkaptonuria-related knee arthritis who underwent left total knee ...
Linfeng Wu, Yu Hu
semanticscholar +1 more source
Alkaptonuria Presenting With Lumbar Disc Herniation: A Case Report
Cureus, 2023 Alkaptonuria is a rare autosomal recessive trait. Symptomatic lumbar disc herniation warranting surgical intervention is a rare scenario in alkaptonuria and only a few cases have been described in the literature.
M. L. Bansal +3 more
semanticscholar +1 more source
Lumbar disc herniation in ochronosis
Indian Spine Journal, 2019 Alkaptonuria is a rare metabolic, autosomal recessive disorder caused by the deficiency of homogentisic acid oxidase and it is characterized by bluish-black discoloration of cartilages, skin (Ochronosis), degenerative changes in the articular, extra ...
Subbiah Jayakumar +2 more
doaj +1 more source
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria [PDF]
, 2017 This work was supported by the Medical Research Council (MR/L002876/1), the Royal College of Surgeons of England, Fondazione Telethon Italy (GGP10058), and Associazione Italiana Malati di Alcaptonuria (AimAKU ...
Bernardini +79 more
core +1 more source