Works matching DE "HAMARTIN"

Results: 22

Congenital Segmental Lymphedema in Tuberous Sclerosis Complex With Associated Subependymal Giant Cell Astrocytomas Treated with Mammalian Target of Rapamycin Inhibitors.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 9, p. NP54, doi. 10.1177/0883073813499969

By:

Prato, Giulia;
Mancardi, Maria Margherita;
Baglietto, Maria Giuseppina;
Janis, Sara;
Vercellino, Nadia;
Rossi, Andrea;
Consales, Alessandro;
Raso, Alessandro;
Garrè, Maria Luisa

Publication type:

Article

Tuberous sclerosis complex: Recent advances in manifestations and therapy.

Published in:

International Journal of Urology, 2017, v. 24, n. 9, p. 681, doi. 10.1111/iju.13390

By:

Wataya‐Kaneda, Mari;
Uemura, Motohide;
Fujita, Kazutoshi;
Hirata, Haruhiko;
Osuga, Keigo;
Kagitani‐Shimono, Kuriko;
Nonomura, Norio

Publication type:

Article

Evidence of Ambiguous Differentiation and mTOR Pathway Dysregulation in Subependymal Giant Cell Astrocytoma.

Published in:

Turkish Journal of Pathology, 2012, v. 28, n. 2, p. 95, doi. 10.5146/tjpath.2012.01107

By:

Barrows, Brad D.;
Rutkowski, Martin J.;
Gültekin, Şakir Humayun;
Parsa, Andrew T.;
Tihan, Tarik

Publication type:

Article

Tsc1 is a Critical Regulator of Macrophage Survival and Function.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2015, v. 36, n. 4, p. 1406, doi. 10.1159/000430306

By:

Fang, Chunmin;
Yu, Juan;
Luo, Yuechen;
Chen, Song;
Wang, Weiqiang;
Zhao, Chunxiao;
Sun, Zhina;
Wu, Wantong;
Guo, Wei;
Han, Zhongchao;
Hu, Xiao;
Liao, Fang;
Feng, Xiaoming

Publication type:

Article

Tsc1 (hamartin) confers neuroprotection against ischemia by inducing autophagy.

Published in:

Nature Medicine, 2013, v. 19, n. 3, p. 351, doi. 10.1038/nm.3097

By:

Papadakis, Michalis;
Hadley, Gina;
Xilouri, Maria;
Hoyte, Lisa C;
Nagel, Simon;
McMenamin, M Mary;
Tsaknakis, Grigorios;
Watt, Suzanne M;
Drakesmith, Cynthia Wright;
Chen, Ruoli;
Wood, Matthew J A;
Zhao, Zonghang;
Kessler, Benedikt;
Vekrellis, Kostas;
Buchan, Alastair M

Publication type:

Article

A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report.

Published in:

2015

By:

Yuji Shinzato;
Yasukazu Ikehara

Publication type:

Case Study

13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasia.

Published in:

2013

By:

Ludwig Behnes, Carl;
Schütze, Gunther;
Engelke, Christoph;
Bremmer, Felix;
Gunawan, Bastian;
Radzun, Heinz-Joachim;
Schweyer, Stefan

Publication type:

Case Study

New avenues for anti-epileptic drug discovery and development.

Published in:

Nature Reviews Drug Discovery, 2013, v. 12, n. 10, p. 757, doi. 10.1038/nrd4126

By:

Löscher, Wolfgang;
Klitgaard, Henrik;
Twyman, Roy E.;
Schmidt, Dieter

Publication type:

Article

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62759-5

By:

Reyna-Fabián, Miriam E.;
Hernández-Martínez, Nancy L.;
Alcántara-Ortigoza, Miguel A.;
Ayala-Sumuano, Jorge T.;
Enríquez-Flores, Sergio;
Velázquez-Aragón, José A.;
Varela-Echavarría, Alfredo;
Todd-Quiñones, Carlos G.;
González-del Angel, Ariadna

Publication type:

Article

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Published in:

Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-5

By:

Bahl, Samira;
Chiang, Colby;
Beauchamp, Roberta L.;
Neale, Benjamin M.;
Daly, Mark J.;
Gusella, James F.;
Talkowski, Michael E.;
Ramesh, Vijaya

Publication type:

Article

Tuberous-sclerosis complex-related cell signaling in the pathogenesis of lung cancer.

Published in:

Diagnostic Pathology, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1746-1596-9-48

By:

Fuchs, Angela;
König, Katharina;
Heukamp, Lukas C.;
Fassunke, Jana;
Kirfel, Jutta;
Huss, Sebastian;
Becker, Albert J.;
Büttner, Reinhard;
Majores, Michael

Publication type:

Article

Endogenous neuroprotection: Hamartin modulates an austere approach to staying alive in a recession.

Published in:

International Journal of Stroke, 2013, v. 8, n. 6, p. 449, doi. 10.1111/ijs.12130

By:

Hadley, Gina;
De Luca, Gabriele C.;
Papadakis, Michalis;
Buchan, Alastair M.

Publication type:

Article

Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 4, p. 216, doi. 10.1038/jhg.2013.3

By:

Niida, Yo;
Wakisaka, Akiko;
Tsuji, Takanori;
Yamada, Hiroshi;
Kuroda, Mondo;
Mitani, Yusuke;
Okumura, Akiko;
Yokoi, Ayano

Publication type:

Article

Loss of Tsc1 accelerates malignant gliomagenesis when combined with oncogenic signals.

Published in:

Journal of Biochemistry, 2014, v. 155, n. 4, p. 227, doi. 10.1093/jb/mvt112

By:

Yamada, Daisuke;
Hoshii, Takayuki;
Tanaka, Shingo;
Hegazy, Ahmed M.;
Kobayashi, Masahiko;
Tadokoro, Yuko;
Ohta, Kumiko;
Ueno, Masaya;
Ali, Mohamed A.E.;
Hirao, Atsushi

Publication type:

Article

Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.

Published in:

2017

By:

Živčić-Ćosić, Stela;
Mayer, Karin;
Đorđević, Gordana;
Nellist, Mark;
Hoogeveen-Westerveld, Marianne;
Miletić, Damir;
Rački, Sanjin;
Klein, Hanns-Georg;
Trobonjača, Zlatko

Publication type:

Case Study

Tratamento da linfangioleiomiomatose e Camões.

Published in:

2015

By:

Rufino, Rogério

Publication type:

Editorial

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-00124-8

By:

Ahmad, Saba;
Manon, Luis;
Bhat, Gifty;
Machado, Jerry;
Zalan, Alice;
Mata-Machado, Nikolas;
Garzon, Steven;
Yoshii, Akira

Publication type:

Article

Tsc1-Tp53 loss induces mesothelioma in mice, and evidence for this mechanism in human mesothelioma.

Published in:

Oncogene, 2014, v. 33, n. 24, p. 3151, doi. 10.1038/onc.2013.280

By:

Guo, Y;
Chirieac, L R;
Bueno, R;
Pass, H;
Wu, W;
Malinowska, I A;
Kwiatkowski, D J

Publication type:

Article

Clinical manifestations of tuberous sclerosis complex.

Published in:

Eastern Journal of Medicine, 2013, v. 18, n. 2, p. 52

By:

Atay, Ahmet Engin;
Akbas, Halit;
Sakar, Nafi;
Pasa, Semir;
Ari, Seyhmus;
Ekin, Nazim

Publication type:

Article

Analysis of TSC1 mutation spectrum in mucosal melanoma.

Published in:

Journal of Cancer Research & Clinical Oncology, 2018, v. 144, n. 2, p. 257, doi. 10.1007/s00432-017-2550-z

By:

Ma, Meng;
Dai, Jie;
Xu, Tianxiao;
Yu, Sifan;
Yu, Huan;
Tang, Huan;
Yan, Junya;
Wu, Xiaowen;
Yu, Jiayi;
Chi, Zhihong;
Si, Lu;
Cui, Chuanliang;
Sheng, Xinan;
Kong, Yan;
Guo, Jun

Publication type:

Article

Tuberous Sclerosis Complex 1- Mechanistic Target of Rapamycin Complex 1 Signaling Determines Brown-to-White Adipocyte Phenotypic Switch.

Published in:

Diabetes, 2015, v. 64, n. 2, p. 519, doi. 10.2337/db14-0427

By:

Xinxin Xiang;
He Lan;
Hong Tang;
Fang Yuan;
Yanhui Xu;
Jing Zhao;
Yin Li;
Weizhen Zhang

Publication type:

Article

iNKT cells require TSC1 for terminal maturation and effector lineage fate decisions.

Published in:

2017

By:

Jinhong Wu;
Jialong Yang;
Kai Yang;
Hongxia Wang;
Gorentla, Balachandra;
Jinwook Shin;
Yurong Qiu;
Que, Loretta G.;
Foster, W. Michael;
Zhenwei Xia;
Hongbo Chi;
Xiao-Ping Zhong;
Wu, Jinhong;
Yang, Jialong;
Yang, Kai;
Wang, Hongxia;
Shin, Jinwook;
Qiu, Yurong;
Xia, Zhenwei;
Chi, Hongbo

Publication type:

journal article