Results 171 to 180 of about 140,652 (287)
Iron and Other Metal Ions in Human Health and Disease
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley +1 more source
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source
Prevalence and factors associated with anemia among patients with type 2 diabetes mellitus in northeastern Thailand: A cross-sectional study. [PDF]
Yooyen K +5 more
europepmc +1 more source
SMRT sequencing accurately resolves SMN1 and SMN2 copy numbers, revealing an SMA carrier frequency of 2.33% and gene distribution patterns. Integrated with case analysis, it provides critical insights for clinical diagnosis and genetic counseling.
Hua Wei +6 more
wiley +1 more source
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source
Diagnostic Challenges of Hemoglobin (Hb) Hekinan with deletional α<sup>0</sup>-thalassemia and β<sup>0</sup>-thalassemia During Prenatal Screening for Fetal Hb E/β-Thalassemia Risk. [PDF]
Chumnumsiriwath P +7 more
europepmc +1 more source
Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett +11 more
wiley +1 more source
Delayed recognition and significant morbidity in adults with non-transfusion-dependent thalassemia. [PDF]
Cheng AN +4 more
europepmc +1 more source
ABSTRACT Luspatercept enhances late‐stage erythroid maturation by sequestering transforming growth factor‐β superfamily ligands and attenuating pathological signaling, with a mechanism highly analogous to that of sotatercept, a breakthrough therapeutic agent for pulmonary hypertension (PH).
Qi Jin +9 more
wiley +1 more source
Contemporary Management of Thalassemia: A Perspective on Current Standards and the Emergence of FDA-Approved Oral Therapy. [PDF]
Zainab F, Hasan AH, Abid MH, Abid MA.
europepmc +1 more source

