Results 181 to 190 of about 475,380 (299)

The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies. [PDF]

J Cardiovasc Dev Dis
Caputo V, Visconti VV, Marchionni E, Ferradini V, Balsano C, De Vico P, Calò L, Mango R, Novelli G, Sangiuolo F.   +9 more
europepmc   +1 more source

Natural Products as Geroprotective Modulators in Diabetic Nephropathy: A Mechanistic Framework Integrating Aging Hallmarks and the AMPK–SIRT1–Nrf2 Axis

Aging and Cancer, EarlyView.
Natural products target the aging kidney in diabetic nephropathy by restoring the AMPK–SIRT1–Nrf2 axis, reducing oxidative stress, inflammation, fibrosis, and cellular senescence while enhancing mitochondrial biogenesis and antioxidant defenses.
Sherif Hamidu, Latif Adams, Eunice Ampem‐Danso, Justice Kumi, Abigail Aning, Fatima Hamidu, Mustapha Abdul Mumin Mohammed, Ayuba Nii Darku Ankrah, Seth Kwabena Amponsah   +8 more
wiley   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Common on “Prenatal diagnosis of a de novo 16p11.2 microduplication of 16p11.2 BP4-5 copy number variants in a fetus with apparently normal phenotype”

Taiwanese Journal of Obstetrics & Gynecology
Jiaxuan Tan, Hongmei Shen
doaj   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics. [PDF]

Clin Genet
Birnbaum R, Slovik M, Zenvirt S, Livyatan I, Altman I, Gershon S, Rips J, Daum H, Rosenbluh C, Elpeleg O, Meiner V, Frumkin A, Mor-Shaked H, Harel T.   +13 more
europepmc   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Genomic copy-number variants drive apoptotic evasion underlying acquired resistance to immune checkpoint inhibitors. [PDF]

Immunity
Wu M, Yang S, Yang Z, Fan J, Lomeli SH, Dharanipragada P, Moriceau G, Damoiseaux R, Kelley MC, Prieto-Granada CN, Giubellino A, Nosrati M, Kashani-Sabet M, Kim KB, Johnson DB, Liu S, Lo RS.   +16 more
europepmc   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Exploring Copy Number Variants in a Cohort of Children Affected by ADHD: Clinical Investigation and Translational Insights. [PDF]

Genes (Basel)
Mirabella F, Finocchiaro V, Figura M, Galesi O, Elia M, Buono S, Barone R, Rizzo R.   +7 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source