Results 81 to 90 of about 2,003,726 (300)
Scientific ReportsX-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase.
Daniel Jové-Solavera +12 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Diabetes‐Associated Cognitive Impairment: Pathophysiology and Emerging Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Diabetes‐associated cognitive impairment (DACI) is a common yet underrecognized condition, manifesting along a spectrum from mild cognitive impairment to dementia. DACI encompasses patients who develop vascular dementia (VaD) or Alzheimer's disease (AD) with diabetes as a risk factor; however, in certain patients, particularly those lacking ...
Osman Corbali +4 more
wiley +1 more source
Subjective Cognitive Concerns and Cognitive Trajectories in Parkinson's Disease: Biomarker Impact
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the relationship of subjective cognitive concerns (SCC) with biomarkers of Alzheimer's disease (AD), neurodegeneration, and Parkinson's disease (PD) and domain‐specific cognitive trajectories among cognitively unimpaired persons with de novo PD. Method Cognitively unimpaired participants with SCC (n = 294) and without SCC (
Francesca V. Lopez +5 more
wiley +1 more source
Iron metabolism in cancer progression
, 2020 Iron is indispensable for cell metabolism of both normal and cancer cells. In the latter, several disruptions of its metabolism occur at the steps of tumor initiation, progression and metastasis.
Greco L. +14 more
core +2 more sources
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Regulation of hepcidin and hemojuvelin expression and their role in iron homeostasis [PDF]
, 2010 Hepcidin is the key regulator of iron homeostasis acting as a negative regulator of intestinal iron absorption. Several proteins have recently been identified to act as upstream regulators of hepcidin expression, such as HFE and hemojuvelin (HJV ...
Salama, M.F.I.
core
Iron transport: From enterocyte to mitochondria
Turkish Journal of Hematology, 2010 Transport of iron to tissues is of vital importance. Remarkable advances have been made concerning the mechanisms involving iron metabolism after its absorption.
Namık Özbek
doaj +3 more sources
Arthritis Care &Research, EarlyView.Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source