Zobrazeno 1 - 8
of 8
pro vyhledávání: '"John R Dreier"'
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0167384 (2016)
Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosi
Externí odkaz:
https://doaj.org/article/4cbc3f76f7684e43958b2df227b38f53
Autor:
Elyza Kelly, Jonathan O. Lipton, Samantha M. Schaeffer, Stephen H.T. Lammers, Jill L. Silverman, Chloe E. Super, Lothar Lindemann, Alexander Rotenberg, John R. Dreier, Meera E. Modi, Mustafa Sahin, Michael Honer, Sameer C. Dhamne, David J. Kwiatkowski, Georg Jaeschke
Publikováno v:
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, vol 43, iss 6
Drugs targeting metabotropic glutamate receptor 5 (mGluR5) have therapeutic potential in autism spectrum disorders (ASD), including tuberous sclerosis complex (TSC). The question whether inhibition or potentiation of mGluR5 could be beneficial depend
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3afe43df944198059452f4ac8ac6fa
https://doi.org/10.1038/npp.2017.295
https://doi.org/10.1038/npp.2017.295
Autor:
Elizabeth P. Henske, Heng-Jia Liu, John R. Dreier, David J. Kwiatkowski, Chin-Lee Wu, Damir Khabibullin, Heng Du, Mahsa Zarei
Publikováno v:
Molecular Cancer Research. 18:B13-B13
Renal angiomyolipoma (AML) and cysts are seen in 70-80% of patients with the human tumor suppressor gene syndrome tuberous sclerosis complex (TSC). Renal cell carcinoma (RCC) also is relatively common in TSC. Although two-hit loss of TSC1/2 is establ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8ccc2e09425104e4efe5cbe9ceaad1c
https://doi.org/10.1158/1557-3125.pi3k-mtor18-b13
https://doi.org/10.1158/1557-3125.pi3k-mtor18-b13
Autor:
Wonji, Kim, Krinio, Giannikou, John R, Dreier, Sanghun, Lee, Magdalena E, Tyburczy, Edwin K, Silverman, Elżbieta, Radzikowska, Shulin, Wu, Chin-Lee, Wu, Elizabeth P, Henske, Gary, Hunninghake, Havi, Carel, Antonio, Roman, Miquel Angel, Pujana, Joel, Moss, Sungho, Won, David J, Kwiatkowski
Publikováno v:
The European respiratory journal. 53(6)
Lymphangioleiomyomatosis (LAM) occurs either associated with tuberous sclerosis complex (TSC) or as sporadic disease (S-LAM). Risk factors for development of S-LAM are unknown. We hypothesised that DNA sequence variants outside ofGenotyped and impute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c55d9ce2d292a9f76e718886dc7297d6
https://pubmed.ncbi.nlm.nih.gov/31249011
https://pubmed.ncbi.nlm.nih.gov/31249011
Publikováno v:
Human Molecular Genetics.
Hemangiopericytoma (HPC) is a rare vascular tumor, which is thought to originate from pericytes. However, no direct evidence for the cell of origin has been found, and the mechanism of HPC tumorigenesis is poorly understood. Here we report that loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::877dc4469969cfcfefe1f53886f085e2
https://doi.org/10.1093/hmg/ddy289
https://doi.org/10.1093/hmg/ddy289
Autor:
Elżbieta Radzikowska, Havi Carel, Magdalena E. Tyburczy, Elizabeth P. Henske, Gary M. Hunninghake, Shulin Wu, Krinio Giannikou, Wonji Kim, Sanghun Lee, David J. Kwiatkowski, Joel Moss, Edwin K. Silverman, Sungho Won, Miquel Angel Pujana, John R. Dreier, Antonio Roman, Chin-Lee Wu
Publikováno v:
European Respiratory Journal. 53:1900329
IntroductionLymphangioleiomyomatosis (LAM) occurs either associated with tuberous sclerosis complex (TSC) or as sporadic disease (S-LAM). Risk factors for development of S-LAM are unknown. We hypothesised that DNA sequence variants outside of TSC2/TS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f2588863a5385b065d4ab10747118f7
https://doi.org/10.1183/13993003.00329-2019
https://doi.org/10.1183/13993003.00329-2019
Autor:
Heng-Jia Liu, Mahsa Zarei, David J. Kwiatkowski, Chin-Lee Wu, John R. Dreier, Heng Du, Damir Khabibullin, Elizabeth P. Henske
Publikováno v:
Cancer Research. 78:5096-5096
Renal cell carcinoma (RCC) occurs in up to 4% of tuberous sclerosis complex (TSC) patients, often affecting children and young adults. The mechanisms of TSC-associated RCC are not well understood. We explored the pathogenesis of TSC-associated RCC us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa82f7c0d1b24da278dec9d73b9829e8
https://doi.org/10.1158/1538-7445.am2018-5096
https://doi.org/10.1158/1538-7445.am2018-5096
Autor:
Yinan Zhang, Scott B. Widenmaier, Brendan D. Manning, Gökhan S. Hotamisligil, Stéphane J. H. Ricoult, David J. Kwiatkowski, John R. Dreier, Justin W. Nicholatos
Eukaryotic cells coordinately control anabolic and catabolic processes to maintain cell and tissue homeostasis. Mechanistic target of rapamycin complex 1 (mTORC1) promotes nutrient-consuming anabolic processes, such as protein synthesis. Here we show
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7c96599565214b010ebde071219dd0
https://europepmc.org/articles/PMC4402229/
https://europepmc.org/articles/PMC4402229/
