Genetics of human brain development

Y Zhou, H Song, G Ming - Nature Reviews Genetics, 2024 - nature.com
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …

mTOR: Role in cancer, metastasis and drug resistance

AK Murugan - Seminars in cancer biology, 2019 - Elsevier
Mammalian target of rapamycin (mTOR) is a serine/threonine kinase that gets inputs from
the amino acids, nutrients, growth factor, and environmental cues to regulate varieties of …

The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission

I Najm, D Lal, M Alonso Vanegas, F Cendes… - …, 2022 - Wiley Online Library
Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous
research and consensus agreement to improve disease definition and classification. An …

Lineage recording in human cerebral organoids

Z He, A Maynard, A Jain, T Gerber, R Petri, HC Lin… - Nature …, 2022 - nature.com
Induced pluripotent stem cell (iPSC)-derived organoids provide models to study human
organ development. Single-cell transcriptomics enable highly resolved descriptions of cell …

Human glioblastoma arises from subventricular zone cells with low-level driver mutations

JH Lee, JE Lee, JY Kahng, SH Kim, JS Park, SJ Yoon… - Nature, 2018 - nature.com
Glioblastoma (GBM) is a devastating and incurable brain tumour, with a median overall
survival of fifteen months,. Identifying the cell of origin that harbours mutations that drive …

mTOR and neuroinflammation in epilepsy: implications for disease progression and treatment

T Ravizza, M Scheper, R Di Sapia, J Gorter… - Nature Reviews …, 2024 - nature.com
Epilepsy remains a major health concern as anti-seizure medications frequently fail, and
there is currently no treatment to stop or prevent epileptogenesis, the process underlying the …

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

S Baldassari, T Ribierre, E Marsan… - Acta …, 2019 - Springer
Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …

The genetics of epilepsy

P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Human embryonic genetic mosaicism and its effects on development and disease

SM Waldvogel, JE Posey, MA Goodell - Nature Reviews Genetics, 2024 - nature.com
Nearly every mammalian cell division is accompanied by a mutational event that becomes
fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant …

Role of mTOR in glucose and lipid metabolism

Z Mao, W Zhang - International journal of molecular sciences, 2018 - mdpi.com
The mammalian target of rapamycin, mTOR is the master regulator of a cell's growth and
metabolic state in response to nutrients, growth factors and many extracellular cues. Its …