Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema

S Martin-Almedina, PS Mortimer… - Physiological …, 2021 - journals.physiology.org
Primary lymphedema is a long-term (chronic) condition characterized by tissue lymph
retention and swelling that can affect any part of the body, although it usually develops in the …

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

PQ Duy, SC Weise, C Marini, XJ Li, D Liang… - Nature …, 2022 - nature.com
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …

Vein of Galen aneurysmal malformation: rationalizing medical management of neonatal heart failure

MJ Cory, P Durand, R Sillero, L Morin, R Savani… - Pediatric …, 2023 - nature.com
Neonates who present in high output heart failure secondary to vein of Galen aneurysmal
malformation can be difficult to manage medically due to the complex physiology that results …

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

SC Jin, W Dong, AJ Kundishora, S Panchagnula… - Nature medicine, 2020 - nature.com
Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a
disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with …

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

S Zhao, KY Mekbib, MA van der Ent, G Allington… - Nature …, 2023 - nature.com
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …

[HTML][HTML] Angiogenesis depends upon EPHB4-mediated export of collagen IV from vascular endothelial cells

D Chen, ED Hughes, TL Saunders, J Wu… - JCI insight, 2022 - ncbi.nlm.nih.gov
Capillary malformation-arteriovenous malformation (CM-AVM) is a blood vascular anomaly
caused by inherited loss-of-function mutations in RASA1 or EPHB4 genes, which encode …

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

AJ Kundishora, G Allington, S McGee, KY Mekbib… - Nature medicine, 2023 - nature.com
Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of
developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an …

DIAPH1 variants in non–east asian patients with sporadic moyamoya disease

AJ Kundishora, ST Peters, A Pinard, D Duran… - JAMA …, 2021 - jamanetwork.com
Importance Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing
and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood …

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

AK Singh, G Allington, S Viviano, S McGee, E Kiziltug… - Brain, 2024 - academic.oup.com
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder
requiring brain surgery in children. Recent studies have implicated SMARCC1, a component …

Review of treatment and therapeutic targets in brain arteriovenous malformation

P Pan, S Weinsheimer, D Cooke… - Journal of Cerebral …, 2021 - journals.sagepub.com
Brain arteriovenous malformations (bAVM) are an important cause of intracranial
hemorrhage (ICH), especially in younger patients. The pathogenesis of bAVM are largely …