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The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.
Eur Arch Paediatr Dent
January 2025
Dental School, The University of Western Australia, 17 Monash Avenue, Nedlands, WA, 6009, Australia.
Purpose: This systematic review aims to consolidate existing genetic and clinical data on non-syndromic dentinogenesis imperfecta (DI) to enhance understanding of its etiology.
Methods: Electronic databases were searched for genetic familial linkage studies published in English without time restrictions. Genetic familial linkage studies that reported cases of Shield's classifications: DI-II, DI-III or DD-II were included.
Single-cell transcriptomics in a child with coenzyme Q10 nephropathy: potential of single-cell RNA sequencing in pediatric kidney disease.
Pediatr Nephrol
January 2025
Department of Translational Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Background: Coenzyme Q10 (CoQ10) nephropathy is a well-known cause of hereditary steroid-resistant nephrotic syndrome, primarily impacting podocytes. This study aimed to elucidate variations in individual cell-level gene expression in CoQ10 nephropathy using single-cell transcriptomics.
Methods: We conducted single-cell sequencing of a kidney biopsy specimen from a 5-year-old boy diagnosed with a CoQ10 nephropathy caused by a compound heterozygous COQ2 mutation complicated with immune complex-mediated glomerulonephritis.
Insights into eye genetics and recent advances in ocular gene therapy.
Mol Cell Probes
January 2025
Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland, Mittlere Strasse 91, CH-4031. Electronic address:
The rapid advancements in the field of genetics have significantly propelled the development of gene therapies, paving the way for innovative treatments of various hereditary disorders. This review focuses on the genetics of ophthalmologic conditions, highlighting the currently approved ophthalmic gene therapy and exploring emerging therapeutic strategies under development. Inherited retinal dystrophies represent a heterogeneous group of genetic disorders that manifest across a broad spectrum from infancy to late middle age.
View Article and Find Full Text PDFDisrupted homeostasis in sickle cells: Expanding the comprehension of metabolism adaptation and related therapeutic strategies.
Tissue Cell
January 2025
Department of Biology, Universidade Estadual Paulista (UNESP), São Paulo, Brazil; Campus de Três Lagoas, Universidade Federal de Mato Grosso do Sul (CPTL/UFMS), Mato Grosso do Sul, Brazil. Electronic address:
Sickle cell disease (SCD) is a hereditary hemolytic anemia associated with the alteration of the membrane composition of the sickle erythrocytes, the loss of glycolysis, dysregulation of the pyruvate phosphatase pathway, and changes in nucleotide metabolism of the sickle red blood cell (RBC). This review provides a comprehensive overview of the impact of the presence of Hb S, which leads to the disruption of the normal RBC metabolism. The intricate interplay between the redox and energetic balance in erythrocytic cells, where the glycolysis, pentose phosphate pathway, and methemoglobin reductase pathways are all altered in sickle RBC, is a key focus.
View Article and Find Full Text PDFClinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography.
J Neuroophthalmol
November 2024
Ophthalmology Department (AC-C, MF-R, SA-A, RA, BS-D), Seu Maternitat, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain; Faculty of Medicine and Health Sciences (AC-C, SA-A, BS-D), Universitat de Barcelona, Barcelona, Spain; Fundació Per La Recerca Biomèdica-IDIBAPS (MF-R, SA-A, BS-D), Barcelona, Spain; and Ophthalmology Department (MS-G), Consorci Mar Parc de Salut de Barcelona, Barcelona, Spain.
Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography (OCT) and explored potential clinical biomarkers.
Methods: A cross-sectional, case-control observational study included 27 patients with ADOA and 27 age- and sex-matched healthy controls.
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