ISSVA classification of vascular anomalies and molecular biology
K Kunimoto, Y Yamamoto, M **nin - International journal of molecular …, 2022 - mdpi.com
Vascular anomalies include various diseases, which are classified into two types according
to the International Society for the Study of Vascular Anomalies (ISSVA) classification …
to the International Society for the Study of Vascular Anomalies (ISSVA) classification …
Seizures and epilepsy: an overview for neuroscientists
CE Stafstrom, L Carmant - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
Epilepsy is one of the most common and disabling neurologic conditions, yet we have an
incomplete understanding of the detailed pathophysiology and, thus, treatment rationale for …
incomplete understanding of the detailed pathophysiology and, thus, treatment rationale for …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Genetic basis and therapies for vascular anomalies
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …
of inherited and somatic mutations in important signaling pathways, including the PI3K …
Sha** the brain vasculature in development and disease in the single-cell era
T Wälchli, J Bisschop, P Carmeliet, G Zadeh… - Nature Reviews …, 2023 - nature.com
The CNS critically relies on the formation and proper function of its vasculature during
development, adult homeostasis and disease. Angiogenesis—the formation of new blood …
development, adult homeostasis and disease. Angiogenesis—the formation of new blood …
Genetics and genomics of congenital heart disease
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …
in medical and surgical management, there are now more adults living with congenital heart …
New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
An insight into GPCR and G-proteins as cancer drivers
PK Chaudhary, S Kim - Cells, 2021 - mdpi.com
G-protein-coupled receptors (GPCRs) are the largest family of cell surface signaling
receptors known to play a crucial role in various physiological functions, including tumor …
receptors known to play a crucial role in various physiological functions, including tumor …
[HTML][HTML] Hippo-independent activation of YAP by the GNAQ uveal melanoma oncogene through a trio-regulated rho GTPase signaling circuitry
Mutually exclusive activating mutations in the GNAQ and GNA11 oncogenes, encoding
heterotrimeric Gαq family members, have been identified in∼ 83% and∼ 6% of uveal and …
heterotrimeric Gαq family members, have been identified in∼ 83% and∼ 6% of uveal and …
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the
cerebral cortex characterized by dysmorphic neurons, dyslamination and medically …
cerebral cortex characterized by dysmorphic neurons, dyslamination and medically …