Results 21 to 30 of about 1,633 (163)
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
Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria. [PDF]
PLoS ONE, 2014 BACKGROUND: Alkaptonuria, caused by a deficiency of homogentisate 1,2-dioxygenase, results in the accumulation of homogentisic acid (2,5-dihydroxyphenylacetic acid, HGA) in the urine.
Yasunori Tokuhara +16 more
doaj +1 more source
Living with alkaptonuria [PDF]
BMJ, 2011 Simon Laxon, who was diagnosed with a rare genetic disorder, alkaptonuria, soon after birth, describes his journey in understanding the condition and finding hope for a cure I was born in 1966, and within a few days of my birth my parents knew that something was wrong.
Simon, Laxon +2 more
openaire +2 more sources
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
Ophthalmological Manifestations of Alkaptonuria
Oftalʹmologiâ, 2022 Alkaptonuria is rare autosomal recessive multisystem disease, caused by mutations in the homogentisine oxidase gene, which leads to the deposition of metabolites of homogentisic acid in organs and tissues (ochronosis).The purpose: to study spectrum of ...
E. V. Denisova, A. V. Kuzin
doaj +1 more source
Neurology International, 2017 Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. The main objective of
Omar Alrawashdeh +3 more
doaj +1 more source
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status. [PDF]
J Inherit Metab DisABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Flaharty KA +10 more
europepmc +2 more sources
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