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 OMIM

Items: 1 to 20 of 34

1.
PKG-Modified TSC2 Regulates mTORC1 Activity to Counter Adverse Cardiac Stress
Mark J. Ranek, Kristen M. Kokkonen-Simon, Anna Chen, Brittany L. Dunkerly-Eyring, Miguel Pinilla Vera, Christian U. Oeing, Chirag H. Patel, Taishi Nakamura, Guangshuo Zhu, Djahida Bedja, Masayuki Sasaki, Ronald J. Holewinski, Jennifer E. Van Eyk, Jonathan D. Powell, Dong Ik Lee, David A. Kass
Nature. Author manuscript; available in PMC 2019 Jul 30.
Published in final edited form as: Nature. 2019 Feb; 566(7743): 264–269. Published online 2019 Jan 30. doi: 10.1038/s41586-019-0895-y
PMCID:
PMC6426636
AbstractArticlePDF–3.7M
2.
A novel mouse model of hemangiopericytoma due to loss of Tsc2
Heng Du, John R Dreier, Mahsa Zarei, Chin-Lee Wu, Roderick W Bronson, David J Kwiatkowski
Hum Mol Genet. 2018 Dec 15; 27(24): 4169–4175. Published online 2018 Aug 14. doi: 10.1093/hmg/ddy289
PMCID:
PMC6276833
AbstractArticlePDF–49M
3.
Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex
Ebru Ercan, Juliette M. Han, Alessia Di Nardo, Kellen Winden, Min-Joon Han, Leonie Hoyo, Afshin Saffari, Andrew Leask, Daniel H. Geschwind, Mustafa Sahin
J Exp Med. 2017 Mar 6; 214(3): 681–697. doi: 10.1084/jem.20160446
PMCID:
PMC5339668
AbstractArticlePDF–2.8M
4.
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
Jae Seok Lim, Ramu Gopalappa, Se Hoon Kim, Suresh Ramakrishna, Minji Lee, Woo-il Kim, Junho Kim, Sang Min Park, Junehawk Lee, Jung-Hwa Oh, Heung Dong Kim, Chang-Hwan Park, Joon Soo Lee, Sangwoo Kim, Dong Seok Kim, Jung Min Han, Hoon-Chul Kang, Hyongbum (Henry) Kim, Jeong Ho Lee
Am J Hum Genet. 2017 Mar 2; 100(3): 454–472. Published online 2017 Feb 16. doi: 10.1016/j.ajhg.2017.01.030
PMCID:
PMC5339289
AbstractArticlePDF–3.3M
5.
Coordinated regulation of protein synthesis and degradation by mTORC1
Yinan Zhang, Justin Nicholatos, John R. Dreier, Stéphane J. H. Ricoult, Scott B. Widenmaier, Gökhan S. Hotamisligil, David J. Kwiatkowski, Brendan D. Manning
Nature. Author manuscript; available in PMC 2015 Apr 19.
Published in final edited form as: Nature. 2014 Sep 18; 513(7518): 440–443. Published online 2014 Jul 13. doi: 10.1038/nature13492
PMCID:
PMC4402229
AbstractArticlePDF–2.8M
6.
Mutations causing syndromic autism define an axis of synaptic pathophysiology
Benjamin D. Auerbach, Emily K. Osterweil, Mark F. Bear
Nature. Author manuscript; available in PMC 2012 Jun 1.
Published in final edited form as: Nature. 2011 Dec 1; 480(7375): 63–68. Published online 2011 Nov 23. doi: 10.1038/nature10658
PMCID:
PMC3228874
AbstractArticlePDF–1.0M
7.
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis
Cédric Le Caignec, David J Kwiatkowski, Sébastien Küry, Jean-Benoit Hardouin, Judith Melki, Albert David
Eur J Hum Genet. 2009 Sep; 17(9): 1165–1170. Published online 2009 Mar 4. doi: 10.1038/ejhg.2009.28
PMCID:
PMC2874752
AbstractArticlePDF–150K
8.
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/− mice
Jiumei Cao, Limin Gong, Dong-chuan Guo, Ulrike Mietzsch, Shao-Qing Kuang, Callie S. Kwartler, Hazim Safi, Anthony Estrera, Michael J. Gambello, Dianna M. Milewicz
Hum Mol Genet. 2010 May 15; 19(10): 1908–1920. Published online 2010 Feb 16. doi: 10.1093/hmg/ddq066
PMCID:
PMC2860890
AbstractArticlePDF–669K
9.
A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles
Kristen Pollizzi, Izabela Malinowska-Kolodziej, Cheryl Doughty, Charles Betz, Jian Ma, June Goto, David J. Kwiatkowski
Hum Mol Genet. 2009 Jul 1; 18(13): 2378–2387. Published online 2009 Apr 8. doi: 10.1093/hmg/ddp176
PMCID:
PMC2694688
AbstractArticlePDF–326K
10.
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis
Dan Ehninger, Sangyeul Han, Carrie Shilyansky, Yu Zhou, Weidong Li, David J Kwiatkowski, Vijaya Ramesh, Alcino J Silva
Nat Med. Author manuscript; available in PMC 2009 Apr 1.
Published in final edited form as: Nat Med. 2008 Aug; 14(8): 843–848. Published online 2008 Jun 22. doi: 10.1038/nm1788
PMCID:
PMC2664098
AbstractArticlePDF–1.3M
11.
Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse
Sharon W. Way, James McKenna, III, Ulrike Mietzsch, R. Michelle Reith, Henry Cheng-ju Wu, Michael J. Gambello
Hum Mol Genet. 2009 Apr 1; 18(7): 1252–1265. Published online 2009 Jan 15. doi: 10.1093/hmg/ddp025
PMCID:
PMC2655769
AbstractArticlePDF–974K
12.
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway
Tiffiney R. Hartman, Dongyan Liu, Jack T. Zilfou, Victoria Robb, Tasha Morrison, Terry Watnick, Elizabeth P. Henske
Hum Mol Genet. 2009 Jan 1; 18(1): 151–163. Published online 2008 Oct 9. doi: 10.1093/hmg/ddn325
PMCID:
PMC2644647
AbstractArticlePDF–869K
13.
Tuberous sclerosis complex proteins control axon formation
Yong-Jin Choi, Alessia Di Nardo, Ioannis Kramvis, Lynsey Meikle, David J. Kwiatkowski, Mustafa Sahin, Xi He
Genes Dev. 2008 Sep 15; 22(18): 2485–2495. doi: 10.1101/gad.1685008
PMCID:
PMC2546692
AbstractArticlePDF–819K
14.
Loss of the Tuberous Sclerosis Complex Tumor Suppressors Triggers the Unfolded Protein Response to Regulate Insulin Signaling and Apoptosis
Umut Ozcan, Lale Ozcan, Erkan Yilmaz, Katrin Düvel, Mustafa Sahin, Brendan D. Manning, Gökhan S. Hotamisligil
Mol Cell. Author manuscript; available in PMC 2009 Mar 14.
Published in final edited form as: Mol Cell. 2008 Mar 14; 29(5): 541–551. doi: 10.1016/j.molcel.2007.12.023
PMCID:
PMC2361721
AbstractArticlePDF–3.8M
15.
WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1–CUL4–ROC1 ligase
Jian Hu, Sima Zacharek, Yizhou Joseph He, Hyun Lee, Stuart Shumway, Robert J. Duronio, Yue Xiong
Genes Dev. 2008 Apr 1; 22(7): 866–871. doi: 10.1101/gad.1624008
PMCID:
PMC2279197
AbstractArticlePDF–442K
16.
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
E. P. Henske, B. W. Scheithauer, M. P. Short, R. Wollmann, J. Nahmias, N. Hornigold, M. van Slegtenhorst, C. T. Welsh, D. J. Kwiatkowski
Am J Hum Genet. 1996 Aug; 59(2): 400–406.
PMCID:
PMC1914733
SummaryPage BrowsePDF–1.2M
17.
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.
J. Bjornsson, M. P. Short, D. J. Kwiatkowski, E. P. Henske
Am J Pathol. 1996 Oct; 149(4): 1201–1208.
PMCID:
PMC1865172
SummaryPage BrowsePDF–2.4M
18.
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex
L. Khare, G. Strizheva, J. Bailey, K. Au, H. Northrup, M. Smith, S. Smalley, E. P. Henske
J Med Genet. 2001 May; 38(5): 347–349. doi: 10.1136/jmg.38.5.347
PMCID:
PMC1734876
SummaryPDF–143K
19.
Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis
A. Astrinidis, L. Khare, T. Carsillo, T. Smolarek, K. Au, H. Northrup, E. P. Henske
J Med Genet. 2000 Jan; 37(1): 55–57. doi: 10.1136/jmg.37.1.55
PMCID:
PMC1734439
SummaryPDF–86K
20.
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
J R Sampson, M M Maheshwar, R Aspinwall, P Thompson, J P Cheadle, D Ravine, S Roy, E Haan, J Bernstein, P C Harris
Am J Hum Genet. 1997 Oct; 61(4): 843–851. doi: 10.1086/514888
PMCID:
PMC1716004
SummaryPage BrowsePDF–2.2M

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