Results 171 to 180 of about 140,652 (287)

Iron and Other Metal Ions in Human Health and Disease

open access: yesMedComm, Volume 7, Issue 10, October 2026.
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

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

open access: yesMovement Disorders Clinical Practice, Volume 13, Issue 10, Page 2405-2418, October 2026.
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

Clinical Practice of Single‐Molecule Real‐Time Sequencing in the Diagnosis of Spinal Muscular Atrophy

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
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

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

open access: yesPrenatal Diagnosis, Volume 46, Issue 11, Page 1732-1745, October 2026.
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

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

open access: yesPrenatal Diagnosis, Volume 46, Issue 11, Page 1752-1759, October 2026.
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

A Novel Insight Into Luspatercept: Therapeutic Implications in Myelodysplastic Syndrome Patients With Elevated Pulmonary Artery Systolic Pressure

open access: yesPulmonary Circulation, Volume 16, Issue 4, October 2026.
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

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