Mark Nellist Selected Research

Tuberous Sclerosis (Bourneville's Disease)

8/2023	Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
1/2021	G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling.
1/2021	Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
1/2020	Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
1/2020	Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
1/2020	Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations.
12/2017	Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.
11/2017	Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
3/2017	TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
12/2016	Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

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Mark Nellist Research Topics

Disease

36	Tuberous Sclerosis (Bourneville's Disease) 08/2023 - 09/2002
8	Neoplasms (Cancer) 01/2021 - 09/2002
7	Hamartoma 01/2020 - 06/2005
5	Intellectual Disability (Idiocy) 01/2021 - 02/2008
5	Seizures (Absence Seizure) 03/2017 - 11/2006
3	Astrocytoma (Pilocytic Astrocytoma) 01/2021 - 01/2013
3	Epilepsy (Aura) 01/2021 - 01/2013
2	Inborn Genetic Diseases (Disease, Hereditary) 12/2022 - 04/2011
2	Brain Neoplasms (Brain Tumor) 01/2021 - 11/2017
2	Infantile Spasms (West Syndrome) 03/2015 - 01/2013
1	Neurodevelopmental Disorders 01/2023
1	Starvation 01/2021
1	Glioblastoma (Glioblastoma Multiforme) 01/2021
1	Glioma (Gliomas) 01/2021
1	Ganglioglioma 01/2021
1	Renal Cell Carcinoma (Grawitz Tumor) 01/2018
1	Disease Progression 12/2017
1	Hemorrhage 12/2017
1	Metrorrhagia (Spotting) 12/2017
1	Angiomyolipoma 12/2017
1	Autistic Disorder (Autism) 03/2017
1	Hypoglycemia (Reactive Hypoglycemia) 03/2015
1	Partial Epilepsies (Epilepsy, Partial) 02/2015
1	Neoplasm Metastasis (Metastasis) 10/2014
1	Uveal melanoma 10/2014
1	Inflammation (Inflammations) 01/2013
1	Neurocutaneous Syndromes (Phakomatoses) 10/2009
1	Focal Cortical Dysplasia 10/2009

Drug/Important Bio-Agent (IBA)

33	trans-sodium crocetinate (crocetin)IBA 08/2023 - 06/2005
9	Mechanistic Target of Rapamycin Complex 1IBA 01/2021 - 01/2013
5	Proteins (Proteins, Gene)FDA Link 01/2021 - 10/2002
4	Tuberous Sclerosis Complex 2 ProteinIBA 10/2016 - 09/2002
3	DNA (Deoxyribonucleic Acid)IBA 08/2023 - 06/2005
3	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 10/2016 - 09/2002
2	RNA (Ribonucleic Acid)IBA 01/2023 - 01/2021
2	Tuberous Sclerosis Complex 1 ProteinIBA 10/2009 - 10/2002
1	N-(4-isothiocyanatophenethyl)spiperoneIBA 08/2023
1	Amino Acids FDA Link 01/2021
1	Insulin (Novolin)FDA Link 01/2021
1	LipidsIBA 01/2021
1	TOR Serine-Threonine KinasesIBA 01/2021
1	Everolimus FDA Link 01/2018
1	Ribosomal Proteins (Ribosomal Protein)IBA 01/2018
1	MTOR InhibitorsIBA 01/2018
1	temsirolimus FDA Link 01/2018
1	Sunitinib (Sutent)FDA Link 01/2018
1	Lysine (L-Lysine)FDA Link 11/2016
1	Anticonvulsants (Antiepileptic Drugs)IBA 03/2015
1	Adrenocorticotropic Hormone (ACTH)FDA Link 03/2015
1	Glucose (Dextrose)FDA LinkGeneric 03/2015
1	Sirolimus (Rapamycin)FDA Link 10/2013
1	70-kDa Ribosomal Protein S6 Kinases (Ribosomal Protein S6 Kinases, 70 kDa)IBA 01/2013
1	Toll-Like Receptors (Toll-Like Receptor)IBA 01/2013
1	Proto-Oncogene Proteins c-mycIBA 01/2013
1	Biomarkers (Surrogate Marker)IBA 01/2013
1	Receptor for Advanced Glycation End ProductsIBA 01/2013
1	Codon (Codons)IBA 11/2006
1	Ribosomal Protein S6IBA 10/2002

Therapy/Procedure

1	Hysterectomy 12/2017
1	Salpingo-oophorectomy 12/2017
1	Kidney Transplantation 12/2017
1	Ketogenic Diet 03/2015