相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Hope Northrup et al.
PEDIATRIC NEUROLOGY (2021)
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
Sonia Barbosa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
Johann Philipp Zoellner et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex
Wardiya Afshar Saber et al.
MOLECULAR AUTISM (2020)
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants
Miriam E. Reyna-Fabian et al.
SCIENTIFIC REPORTS (2020)
Definitions and classification of malformations of cortical development: practical guidelines
Mariasavina Severino et al.
BRAIN (2020)
Introduction to phacomatoses (neurocutaneous disorders) in childhood
Martino Ruggieri et al.
CHILDS NERVOUS SYSTEM (2020)
SKEMPI 2.0: an updated benchmark of changes in protein-protein binding energy, kinetics and thermodynamics upon mutation
Justina Jankauskaite et al.
BIOINFORMATICS (2019)
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres et al.
NATURE GENETICS (2019)
iSEE: Interface structure, evolution, and energy-based machine learning predictor of binding affinity changes upon mutations
Cunliang Geng et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2019)
Neuronal mTORC1 Is Required for Maintaining the Nonreactive State of Astrocytes
Yue Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
Margot R. F. Reijnders et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
Lennart F. Johansson et al.
HUMAN MUTATION (2016)
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
Reuben J. Pengelly et al.
JOURNAL OF MEDICAL GENETICS (2016)
Mosaic Neurocutaneous Disorders and Their Causes
Martino Ruggieri et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2015)
Stromal Cell-Derived Factor-1α/C-X-C Chemokine Receptor Type 4 Axis Promotes Endothelial Cell Barrier Integrity via Phosphoinositide 3-Kinase and Rac1 Activation
Koji Kobayashi et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2014)
Selective Activation of mTORC1 Signaling Recapitulates Microcephaly, Tuberous Sclerosis, and Neurodegenerative Diseases
Hidetoshi Kassai et al.
CELL REPORTS (2014)
TSC1 Controls Distribution of Actin Fibers through Its Effect on Function of Rho Family of Small GTPases and Regulates Cell Migration and Polarity
Maki Ohsawa et al.
PLOS ONE (2013)
The TSC1-TSC2 complex: a molecular switchboard controlling cell growth
Jingxiang Huang et al.
BIOCHEMICAL JOURNAL (2008)
TSC2 modulates actin cytoskeleton and focal adhesion through TSC1-binding domain and the Rac1 GTPase
E Goncharova et al.
JOURNAL OF CELL BIOLOGY (2004)
分享论文
