Results 221 to 230 of about 1,618,966 (304)

Implantable Systems for Cardiovascular Treatment and Monitoring: Comparative Insights From Intracardiovascular and Extracardiovascular Technologies

Advanced Intelligent Systems, EarlyView.
A unifying device–cardiovascular interface framework is presented to classify implantable cardiovascular technologies as intracardiovascular blood‐contacting systems or extracardiovascular tissue‐only and blood‐handling architectures. Cross‐class comparison across shared semiquantitative criteria, including blood‐contact burden, biomimicry ...
Bergo Nicolò, Semproni Federica, Maselli Martina, Colli Andrea, Cianchetti Matteo, Ciuti Gastone, Stefanini Cesare, Menciassi Arianna   +7 more
wiley   +1 more source

AI‐Based Mitochondrial Network Characterization as a Biomarker for DNM1L‐Related Disease Diagnosis

Advanced Intelligent Systems, EarlyView.
This work provides proof‐of‐concept that AI‐based analysis of mitochondrial network morphology in patient‐derived fibroblasts can identify a phenotypic signature associated with DNM1L deficiency. This automated approach may ultimately provide a complementary functional readout for the interpretation of novel DNM1L variants following genetic testing ...
Uliana Musokhranova, Ioannis Georvasilis, Sofía Illescas, Matina Saritzoglou, Marcos Frías, Mònica Roldán, Anna Ardissone, Isabella Moroni, Àngels García‐Cazorla, Alfonso Oyarzábal   +9 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Regulation of Cerebral Energy Metabolism

, 2000
Magistretti, P. J., Pellerin, L.
openaire   +2 more sources

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source