Results 111 to 120 of about 9,465 (268)
Evolutionary history of the Nesophontidae, the last unplaced Recent mammal family [PDF]
, 2016 The mammalian evolutionary tree has lost several major clades through recent human-caused extinctions. This process of historical biodiversity loss has particularly affected tropical island regions such as the Caribbean, an area of great evolutionary ...
Barnes, I +6 more
core +1 more source
Advanced Science, Volume 13, Issue 1, 5 January 2026.The Bimetallic Nanozyme Amplifier (PEG@AuCZ@CC) to maximize hydrogen peroxide production and reprogram tumor metabolism from glycolysis to oxidative phosphorylation. This shift enhances ferroptotic/cuproptotic signaling cascades and creates a glucose‐enriched but lactate‐depleted tumor microenvironment (TME), effectively overcoming immune tolerance in ...
Jianzhang Luo +9 more
wiley +1 more source
Novel ATP7A gene mutation in a patient with Menkes disease.
The application of clinical genetics, 2018 Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.We describe an infant with developmental delay, neurologic degeneration, and kinky hair.
Caicedo-Herrera, Gabriela +5 more
openaire +2 more sources
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum
European Journal of Medical Genetics, 2020 ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal ...
Melanie Fradin +14 more
openaire +2 more sources
Targeted next generation sequencing for newborn screening of Menkes disease
Molecular Genetics and Metabolism Reports, 2020 Purpose: Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by
Richard B. Parad +5 more
doaj +1 more source
Kandidatengenstudien bei Fokaler Idiopathischer Torsionsdystonie (F-ITD) [PDF]
, 2005 Bei der fokalen idiopathischen Torsionsdystonie (F-ITD) handelt es sich um die häufigste Form der Dystonien, wobei die Ätiologie dieser Erkrankung bisher nicht geklärt ist.
Bandmann, Oliver (PD Dr. med.) +1 more
core +1 more source
Small Science, Volume 6, Issue 1, January 2026.A microneedle dressing incorporating copper nanocluster‐decorated magnesium silicate nanoparticles has been fabricated for treating infected diabetic wounds through initial antibacterial effects, subsequent microenvironment regulation via simultaneous hypoxia mitigation, reactive oxygen species scavenging, and angiogenesis promotion, and fibroblast ...
Shuo Tan +6 more
wiley +1 more source
Disease Models & Mechanisms, 2016 The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of
Hille Fieten +20 more
doaj +1 more source
Sublethal concentrations of waterborne copper induce cellular stress and cell death in zebrafish embryos and larvae [PDF]
, 2011 http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602011000100002&lng=es&nrm=isoCopper is an essential ion that forms part of the active sites of many proteins.
Allende, Miguel +5 more
core +3 more sources
International Journal of Molecular SciencesOvarian cancer (OC), particularly high-grade serous carcinoma (HGSC), is a leading cause of gynecological cancer mortality due to late diagnosis and chemoresistance.
David Lukanović +4 more
semanticscholar +1 more source