Zebrafish disease models in drug discovery: from preclinical modelling to clinical trials

EE Patton, LI Zon, DM Langenau - Nature Reviews Drug Discovery, 2021 - nature.com
Numerous drug treatments that have recently entered the clinic or clinical trials have their
genesis in zebrafish. Zebrafish are well established for their contribution to developmental …

Detecting liquid remnants of solid tumors: circulating tumor DNA minimal residual disease

EJ Moding, BY Nabet, AA Alizadeh, M Diehn - Cancer discovery, 2021 - AACR
Growing evidence demonstrates that circulating tumor DNA (ctDNA) minimal residual
disease (MRD) following treatment for solid tumors predicts relapse. These results suggest …

Genetic basis and therapies for vascular anomalies

A Queisser, E Seront, LM Boon, M Vikkula - Circulation research, 2021 - Am Heart Assoc
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

Shaping 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 …

Novel targets, treatments, and advanced models for intracerebral haemorrhage

M Zille, TD Farr, RF Keep, C Römer, G Xi, J Boltze - EBioMedicine, 2022 - thelancet.com
Intracerebral haemorrhage (ICH) is the second most common type of stroke and a major
cause of mortality and disability worldwide. Despite advances in surgical interventions and …

[HTML][HTML] Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations

M Peyre, D Miyagishima, F Bielle… - … England Journal of …, 2021 - Mass Medical Soc
Abstract Background Cerebral cavernous malformations (CCMs) are common sporadic and
inherited vascular malformations of the central nervous system. Although familial CCMs are …

Somatic mutations in “benign” disease

S Mustjoki, NS Young - New England Journal of Medicine, 2021 - Mass Medical Soc
Somatic Mutations in “Benign” Disease DNA mutations occur in nearly every tissue
throughout the human life span and accumulate at various rates in different tissues …

Brain arteriovenous malformations: a review of natural history, pathobiology, and interventions

CJ Chen, D Ding, CP Derdeyn, G Lanzino… - Neurology, 2020 - AAN Enterprises
Brain arteriovenous malformations (AVMs) are anomalous direct shunts between cerebral
arteries and veins that convalesce into a vascular nidus. The treatment strategies for AVMs …

Childhood stroke

PB Sporns, HJ Fullerton, S Lee, H Kim, WD Lo… - Nature Reviews …, 2022 - nature.com
Stroke is an important cause of neurological morbidity in children; most survivors have
permanent neurological deficits that affect the remainder of their life. Stroke in childhood, the …

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations

D Lai, M Gade, E Yang, HY Koh, J Lu, NM Walley… - Brain, 2022 - academic.oup.com
Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical
development have emerged as important causes of focal epilepsies, particularly those due …