Results 41 to 50 of about 5,440 (220)
, 2013 Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA).
Bukhari, Marwan +2 more
core +1 more source
Evaluation of polyphenol composition and biological activities of two samples from summer and winter seasons of Ligularia fischeri var. Spiciformis Nakai [PDF]
, 2015 Phenolic contents, antioxidant and antimicrobial activities were determined by two samples from summer (June) and winter (December) seasons of Ligularia fischeri var. spiciformis Nakai.
Rekha, Kaliyaperumal +2 more
core +1 more source
Alkaptonuria: A rare cause of recurrent severe back pain in the emergency department [PDF]
Journal of Emergency Medicine, Trauma and Acute Care, 2012 We report a 45 year-old male patient who presented to the emergency department of Hamad General Hospital with recurrent severe low back pain. Clinical examination revealed characteristic deposition of blue-brownish pigment in the sclera and ear.
MSeidahmed +2 more
doaj +1 more source
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
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
Medical Journal of Dr. D.Y. Patil University, 2015 Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and
Swapna S Khatu +4 more
doaj +1 more source
Knee ochronotic arthropathy and arthroscopic findings
Acta Orthopaedica et Traumatologica Turcica, 2020 Ochronotic arthropathy is a rare condition found in patients with alkaptonuria which is a hereditary metabolic disease associated with deposition of homogentisic acid derivatives in the articular cartilage, menisci, ligaments, and connective tissues due ...
Cemal Kural +4 more
doaj +1 more source
mCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistance. [PDF]
, 2016 The ability to predict how a mutation affects ligand binding is an essential step in understanding, anticipating and improving the design of new treatments for drug resistance, and in understanding genetic diseases.
Ascher, David B +2 more
core +3 more sources
Indian Journal of Dermatology, 2011 A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.
G K Tharini +4 more
doaj +1 more source
Plant Biotechnology Journal, Volume 24, Issue 4, Page 2204-2219, April 2026.ABSTRACT Plant biofortification with phytonutrients typically relies on metabolic engineering strategies known as ‘push’ (enhancing biosynthetic flux), ‘block’ (inhibiting competing pathways) and ‘pull’ (promoting metabolite storage). Here, we describe a novel synthetic compound, X57, that simultaneously targets biosynthesis, competition and storage to
Pablo Perez‐Colao +4 more
wiley +1 more source