Children's Medical Research Institute

AAV8-PDE6B with 3’UTR provides rescue of photoreceptor structure and function in the rd10 mouse model of retinitis pigmentosa

Abstract Retinitis pigmentosa (RP), a leading cause of inherited blindness, results in a subset of cases from phosphodiesterase 6 (PDE6) deficiency. We evaluated a novel gene therapy construct, AAV8-RK- PDE6B -3′UTR, in the rd10 mouse model which has a homozygous missense variant...

Vision and Hearing Access in Informed Consent Practice for Clinical Research: A Systematic Literature Review

Providing accessible communication and information during informed consent is critical to promoting autonomy and self-determination. Clinical research staff need to be aware of strategies that can be used to tailor consent practices to meet diverse communication preferences and i...

Applying Proteogenomics to Characterize Molecular Features Associated With a High‐Risk HOXB13 Gene Variant in Prostate Cancer Tumors

ABSTRACT The rare HOXB13 G84E variant is one of few established high‐risk prostate cancer (PrCa) variants, yet the underlying molecular mechanisms by which it drives tumor development remain unknown. Prostate tumors from six heterozygous G84E variant carriers and 18 non‐carriers...

Benefits and Harms of Herbal Medicines for Preventing and Treating Acute Respiratory Infections: An Overview of Systematic Reviews

ABSTRACT Hundreds of herbal medicines are currently marketed for the management of acute respiratory infections (ARIs). However, there is uncertainty about their benefits and harms, and clinical guidance remains unclear. Our objective was to evaluate the benefits and harms of her...

Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients

Glycosylphosphatidylinositol-anchored proteins (GPI-APs) are essential for neuronal development, synaptic organization and signaling. Defects in GPI-anchor biosynthesis or remodeling cause rare neurodevelopmental disorders, including post-GPI attachment to proteins 1 (PGAP1) defi...

Management of Soft Tissue and Visceral Leiomyosarcomas

Importance Leiomyosarcoma is a rare and heterogeneous malignant mesenchymal neoplasm associated with substantial morbidity and mortality. Given recent advances in biologic understanding and the complexity of leiomyosarcoma, a consensus-driven approach is needed to harmonize manag...

Mechanosensitive Stanniocalcin-1 Suppresses Pulmonary Artery Smooth Muscle Cell Proliferation and Attenuates Experimental Pulmonary Hypertension

BACKGROUND: Idiopathic pulmonary arterial hypertension (IPAH) is driven by progressive vascular remodeling, particularly smooth muscle cell (SMC) proliferation. Current combination vasodilator therapies have markedly improved outcomes; however, prognosis remains poor in subgroups...

MUTYH Activity Maintains Telomere Stability in Response to Chronic Telomeric 8-Oxoguanine Damage in Cancer Cells

Telomeres are highly susceptible to oxidative DNA damage, particularly 8-oxoguanine (8-oxoG), which is processed by glycosylase-initiated base excision repair (BER). OGG1 removes 8-oxoG opposite C, and MUTYH removes A misinserted opposite 8-oxoG to prevent mutations. While OGG1 h...