Results 111 to 120 of about 46,855 (284)

Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: A Spanish expanded access trial [PDF]

, 2016
Background: Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/embolization.
Anido, Urbano, Carballido, Joaquín, Gómez-Ferrer, Álvaro, Herrera-Imbroda, Bernardo, Meseguer, Cristina, Morote, Juan, Nieto, Javier, Peces, Ramón, Pérez-Segura, Pedro, Robles, Nicolás Roberto, Torra, Roser, Valero, Marian, Villacampa, Felipe, Álvarez-Ossorio, Jose Luis   +13 more
core   +4 more sources

Epilepsy in Children with Tuberous Sclerosis Complex: A Prospective Observational Study in Bangladesh [PDF]

, 2020
Mohammed M. Rahman, Kanij Fatema
openalex   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Cardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia [PDF]

Journal of Cardio-Thoracic Medicine, 2015
Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex.
Anand Agarwal
doaj  

Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis [PDF]

, 2013
The protein products of the tuberous sclerosis complex (TSC) genes, TSC1 and TSC2, form a complex, which inhibits the small G-protein, Ras homolog enriched in brain (Rheb).
Henske, Elizabeth Petri, Neuman, Nicole A   +1 more
core   +1 more source

Analytical Approaches to Address Challenges in the Analysis of Cannabinoids in Vascular Matrices Using Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Phytocannabinoids are bioactive metabolites derived from the Cannabis sativa plant. They have garnered attention due to their recreational uses and therapeutic potential. Although various analytical strategies have been employed for their analysis, mass spectrometry (MS) coupled to chromatographic separation is superior due to its sensitivity ...
Radwa Mahmoud, Robert B. Laprairie, Anas El‐Aneed   +2 more
wiley   +1 more source

Tuberous Sclerosis Complex: A Roadmap for Future Research

Pediatric Neurology Briefs, 2016
Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state ...
Anna Jeong
doaj   +1 more source

Genetically engineered human cortical spheroid models of tuberous sclerosis. [PDF]

, 2018
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of mechanistic target of rapamycin complex 1 signaling. Hallmark pathologies of TSC are
Bateup, Helen, Blair, John, Hockemeyer, Dirk   +2 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex

Frontiers in Cell and Developmental Biology
BackgroundTuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%–90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants.
Jing Duan, Shirang Pan, Yuanzhen Ye, Zhanqi Hu, Li Chen, Dachao Liang, Tao Fu, Lintao Zhan, Zhuo Li, Jianxiang Liao, Xia Zhao   +10 more
doaj   +1 more source