Mustafa Sahin, Ph.D., M.D.
This page shows the publications co-authored by Mustafa Sahin and David Kwiatkowski.
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2021 Oct; 23(10):2022.
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279.
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643.
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240.
mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465.
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 07; 60:1-12.
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov; 11(11):e1005637.
A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res. 2015 Mar; 13(3):548-55.
Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014 Jul 15; 23(14):3865-74.
Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav Genet. 2013 Jan; 43(1):51-9.
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A. 2011 Nov 08; 108(45):E1070-9.
Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009 May 06; 29(18):5926-37.
Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci. 2008 May 21; 28(21):5422-32.
A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci. 2007 May 23; 27(21):5546-58.
Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012 Oct 01; 21(19):4286-300.
Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008 Sep 15; 22(18):2485-95.
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