U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 50

1.
Seizure reduction in TSC2‐mutant mouse model by an mTOR catalytic inhibitor
Sameer C. Dhamne, Meera E. Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E. Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M. McTighe, Sarika Gurnani, Sheryl Anne D. Vermudez, Daniel Curtis, Christopher J. Wilson, Mustafa Q. Hameed, Angelica D'Amore, Alexander Rotenberg, Mustafa Sahin
Ann Clin Transl Neurol. 2023 Oct; 10(10): 1790–1801. Published online 2023 Aug 6. doi: 10.1002/acn3.51868
PMCID:
PMC10578885
ArticlePubReaderPDF–1.9MCite
2.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Nurhuda Mohamad Ansor, Hilary Sito, Pritha Prasad, Kwame Anyane-Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna C E Hurst, Anna C Jansen, Melissa A Kelly, Ian Krantz, Claudine Rieubland, Meredith Ross, Natasha L Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G Kazanietz, Tom H Millard
Brain. 2022 Dec; 145(12): 4232–4245. Published online 2022 Feb 10. doi: 10.1093/brain/awac049
PMCID:
PMC9762944
ArticlePubReaderPDF–1.3MCite
3.
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion
Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily Bryant, Divakar S Mithal, Irena Bellinski, Lisa Kinsley, Mona Grimmel, Eva M C Schwaibold, Constance Smith-Hicks, Anna Chassevent, Marcello Scala, Andrea Accogli, Annalaura Torella, Pasquale Striano, Valeria Capra, Lynne M Bird, Issam Ben-Sahra, Nina Ekhilevich, Tova Hershkovitz, Karin Weiss, John Millichap, Elizabeth E Gerard, Gemma L Carvill
Brain. 2022 Jun; 145(6): 1939–1948. Published online 2022 Jun 3. doi: 10.1093/brain/awab451
Correction in:
Brain. 2023 Aug; 146(8): e61.
PMCID:
PMC9630660
ArticlePubReaderPDF–727KCite
4.
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex
Sumihito Togi, Hiroki Ura, Hisayo Hatanaka, Yo Niida
Int J Mol Sci. 2022 Oct; 23(19): 11175. Published online 2022 Sep 22. doi: 10.3390/ijms231911175
PMCID:
PMC9569560
ArticlePubReaderPDF–3.0MCite
5.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David Murphy, Flora Maria Murru, Caterina Zanus, Andrea Magnolato, Martina La Bianca, Agnese Feresin, Giorgia Girotto, Paolo Gasparini, Paola Costa, Marco Carrozzi
Am J Med Genet A. 2022 Sep; 188(9): 2652–2665. Published online 2022 Jun 7. doi: 10.1002/ajmg.a.62852
Correction in:
Am J Med Genet A. 2023 Mar; 191(3): 910.
PMCID:
PMC9541101
ArticlePubReaderPDF–2.6MCite
6.
SOD1 mediates lysosome-to-mitochondria communication and its dysregulation by amyloid-β oligomers
Andrés Norambuena, Xuehan Sun, Horst Wallrabe, Ruofan Cao, Naidi Sun, Evelyn Pardo, Nutan Shivange, Dora Bigler Wang, Lisa A. Post, Heather A. Ferris, Song Hu, Ammasi Periasamy, George S. Bloom
Neurobiol Dis. Author manuscript; available in PMC 2022 Jul 18.
Published in final edited form as: Neurobiol Dis. 2022 Jul; 169: 105737. Published online 2022 Apr 20. doi: 10.1016/j.nbd.2022.105737
PMCID:
PMC9291271
ArticlePubReaderPDF–3.6MCite
7.
The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth
Sandra Schrötter, Christopher J. Yuskaitis, Michael R. MacArthur, Sarah J. Mitchell, Aaron M. Hosios, Maria Osipovich, Margaret E. Torrence, James R. Mitchell, Gerta Hoxhaj, Mustafa Sahin, Brendan D. Manning
Cell Rep. Author manuscript; available in PMC 2022 Jun 8.
Published in final edited form as: Cell Rep. 2022 May 17; 39(7): 110824. doi: 10.1016/j.celrep.2022.110824
PMCID:
PMC9175135
ArticlePubReaderPDF–1.0MCite
8.
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
Leonie von Elsner, Guoliang Chai, Pauline E Schneeberger, Frederike L Harms, Christian Casar, Minyue Qi, Malik Alawi, Ghada M H Abdel-Salam, Maha S Zaki, Florian Arndt, Xiaoxu Yang, Valentina Stanley, Maja Hempel, Joseph G Gleeson, Kerstin Kutsche
Brain. 2022 Apr; 145(4): 1551–1563. Published online 2021 Oct 25. doi: 10.1093/brain/awab403
PMCID:
PMC9128818
ArticlePubReaderPDF–1013KCite
9.
Upregulation of the pathogenic transcription factor SPI1/PU.1 in tuberous sclerosis complex and focal cortical dysplasia by oxidative stress
Till S. Zimmer, Anatoly Korotkov, Susan Zwakenberg, Floor E. Jansen, Fried J. T. Zwartkruis, Nicholas R. Rensing, Michael Wong, Angelika Mühlebner, Erwin A. van Vliet, Eleonora Aronica, James D. Mills
Brain Pathol. 2021 Sep; 31(5): e12949. Published online 2021 Mar 30. doi: 10.1111/bpa.12949
PMCID:
PMC8412124
ArticlePubReaderPDF–2.3MCite
10.
Suppressed Expression of Autophagosomal Protein LC3 in Cortical Tubers of Tuberous Sclerosis Complex
Hiroaki Miyahara, Manabu Natsumeda, Atsushi Shiga, Hiroshi Aoki, Yasuko Toyoshima, Yingjun Zheng, Ryoko Takeuchi, Hiroatsu Murakami, Hiroshi Masuda, Shigeki Kameyama, Tatsuro Izumi, Yukihiko Fujii, Hitoshi Takahashi, Akiyoshi Kakita
Brain Pathol. 2013 May; 23(3): 254–262. Published online 2012 Oct 23. doi: 10.1111/j.1750-3639.2012.00634.x
PMCID:
PMC8029364
ArticlePubReaderPDF–1.2MCite
11.
Tuberous sclerosis: a review of the past, present, and future
Sanem Pınar UYSAL, Mustafa ŞAHİN
Turk J Med Sci. 2020; 50(7): 1665–1676. Published online 2020 Nov 3. doi: 10.3906/sag-2002-133
PMCID:
PMC7672342
ArticlePubReaderPDF–712KCite
12.
Mutations in the exocyst component EXOC2 cause severe defects in human brain development
Nicole J. Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, Mark Cowley, Annalisa Vetro, Russell C. Dale, Daniella H. Hock, Christian de Caestecker, Minal Menezes, Sean Massey, Gladys Ho, Tiziana Pisano, Seana Glover, Jovanka Gusman, David A. Stroud, Marcel Dinger, Renzo Guerrini, Ian G. Macara, John Christodoulou
J Exp Med. 2020 Oct 5; 217(10): e20192040. Published online 2020 Jul 8. doi: 10.1084/jem.20192040
PMCID:
PMC7537385
ArticlePubReaderPDF–3.9MCite
13.
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
Thomas Rosengren, Santoesha Nanhoe, Luis Gustavo Dufner de Almeida, Bitten Schönewolf-Greulich, Lasse Jonsgaard Larsen, Caroline Amalie Brunbjerg Hey, Morten Dunø, Jakob Ek, Lotte Risom, Mark Nellist, Lisbeth Birk Møller
Sci Rep. 2020; 10: 9909. Published online 2020 Jun 18. doi: 10.1038/s41598-020-66588-4
PMCID:
PMC7303179
ArticlePubReaderPDF–1.6MCite
14.
Posterior neocortex-specific regulation of neuronal migration by CEP85L identifies maternal centriole dependent activation of CDK5
Andrew Kodani, Connor Kenny, Abbe Lai, Dilenny M Gonzalez, Edward Stronge, Gabrielle M Sejourne, Laura Isacco, Jennifer N Partlow, Anne O’Donnell, Kirsty McWalter, Alicia B Byrne, A James Barkovich, Edward Yang, R Sean Hill, Pawel Gawlinski, Wojciech Wiszniewski, Julie S Cohen, S Ali Fatemi, Kristin W Baranano, Mustafa Sahin, David G Vossler, Christopher J. Yuskaitis, Christopher A. Walsh
Neuron. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Neuron. 2020 Apr 22; 106(2): 246–255.e6. Published online 2020 Feb 24. doi: 10.1016/j.neuron.2020.01.030
PMCID:
PMC7255387
ArticlePubReaderPDF–1.6MCite
15.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
Tadahiro Mitani, Jaya Punetha, Ibrahim Akalin, Davut Pehlivan, Mateusz Dawidziuk, Zeynep Coban Akdemir, Sarenur Yilmaz, Ezgi Aslan, Jill V. Hunter, Hadia Hijazi, Christopher M. Grochowski, Shalini N. Jhangiani, Ender Karaca, Jawid M. Fatih, Piotr Iwanowski, Tomasz Gambin, Pawel Wlasienko, Alicja Goszczanska-Ciuchta, Monika Bekiesinska-Figatowska, Masoumeh Hosseini, Sanaz Arzhangi, Hossein Najmabadi, Jill A. Rosenfeld, Haowei Du, Dana Marafi, Susan Blaser, Ronni Teitelbaum, Rachel Silver, Baylor-Hopkins Center for Mendelian Genomics, Jennifer E. Posey, Hans-Hilger Ropers, Richard A. Gibbs, Wojciech Wiszniewski, James R. Lupski, David Chitayat, Kimia Kahrizi, Pawel Gawlinski
Am J Hum Genet. 2019 Nov 7; 105(5): 1005–1015. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.017
PMCID:
PMC6848995
ArticlePubReaderPDF–2.3MCite
16.
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece
Socratis Avgeris, Florentia Fostira, Andromachi Vagena, Yiannis Ninios, Angeliki Delimitsou, Radek Vodicka, Radek Vrtel, Sotirios Youroukos, Dimitrios J. Stravopodis, Metaxia Vlassi, Aristotelis Astrinidis, Drakoulis Yannoukakos, Gerassimos E. Voutsinas
Sci Rep. 2017; 7: 16697. Published online 2017 Dec 1. doi: 10.1038/s41598-017-16988-w
PMCID:
PMC5711901
ArticlePubReaderPDF–1.4MCite
17.
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa
PLoS One. 2017; 12(8): e0181791. Published online 2017 Aug 7. doi: 10.1371/journal.pone.0181791
PMCID:
PMC5546575
ArticlePubReaderPDF–4.9MCite
18.
Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex
Joshua A. Samuels
Clin J Am Soc Nephrol. 2017 Jul 7; 12(7): 1196–1202. Published online 2017 Mar 16. doi: 10.2215/CJN.08150816
PMCID:
PMC5498351
ArticlePubReaderCite
19.
The genomic landscape of tuberous sclerosis complex
Katie R. Martin, Wanding Zhou, Megan J. Bowman, Juliann Shih, Kit Sing Au, Kristin E. Dittenhafer-Reed, Kellie A. Sisson, Julie Koeman, Daniel J. Weisenberger, Sandra L. Cottingham, Steven T. DeRoos, Orrin Devinsky, Mary E. Winn, Andrew D. Cherniack, Hui Shen, Hope Northrup, Darcy A. Krueger, Jeffrey P. MacKeigan
Nat Commun. 2017; 8: 15816. Published online 2017 Jun 15. doi: 10.1038/ncomms15816
PMCID:
PMC5481739
ArticlePubReaderPDF–1.7MCite
20.
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation
Ronak M. Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T. Lu, V. Reid Sutton, Susan D. Fernbach, Mahshid Azamian, Lisa White, Jane C. Edmond, Evelyn A. Paysse, John W. Belmont, Donna Muzny, James R. Lupski, Richard A. Gibbs, Richard Alan Lewis, Brendan H. Lee, Seema R. Lalani, Philippe M. Campeau
Cold Spring Harb Mol Case Stud. 2017 Mar; 3(2): a000984. doi: 10.1101/mcs.a000984
PMCID:
PMC5334472
ArticlePubReaderPDF–1.5MCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center