Results 51 to 60 of about 37,863 (256)

Hypoxia-inducible factor-1α polymorphisms and TSC1/2 mutations are complementary in head and neck cancers

Molecular Cancer, 2006
Background Polymorphisms or mutations in hypoxia inducible factor-1 alpha (HIF-1alpha) that increases its activity and stability under normoxia have recently been identified.
Nikitakis Nikolaos G, Ord Robert A, Parashar Pallavi, Norris Kathleen, Hebert Carla, Sauk John J   +5 more
doaj   +1 more source

Vascular Growth in the Fetal Lung [PDF]

, 2011
The structure of the lung is truly remarkable. It is primarily composed of three branched tubular networks (the airway, pulmonary artery and vein, bronchial artery and vein) which supply blood and air to the site of gas exchange and which maintain ...
Land, Stephen
core   +4 more sources

Modeling Autistic Features in Animals [PDF]

, 2011
A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
core   +1 more source

Exosomes originating from neural stem cells undergoing necroptosis participate in cellular communication by inducing TSC2 upregulation of recipient cells following spinal cord injury

Neural Regeneration Research
We previously demonstrated that inhibiting neural stem cells necroptosis enhances functional recovery after spinal cord injury. While exosomes are recognized as playing a pivotal role in neural stem cells exocrine function, their precise function in ...
Shiming Li, Jianfeng Li, Guoliang Chen, Tao Lin, Penghui Zhang, Kuileung Tong, Ningning Chen, Shaoyu Liu   +7 more
doaj   +1 more source

Exome sequencing of Saudi Arabian patients with ADPKD

Renal Failure, 2019
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP)
Fahad A. Al-Muhanna, Abdullah M. Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A. Alali, Afnan F. Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S. Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B. Lanktree, Amein K. Al-Ali   +19 more
doaj   +1 more source

Upregulation of acid ceramidase contributes to tumor progression in tuberous sclerosis complex

JCI Insight, 2023
Tuberous sclerosis complex (TSC) is characterized by multisystem, low-grade neoplasia involving the lung, kidneys, brain, and heart. Lymphangioleiomyomatosis (LAM) is a progressive pulmonary disease affecting almost exclusively women.
Aristotelis Astrinidis, Chenggang Li, Erik Y. Zhang, Xueheng Zhao, Shuyang Zhao, Minzhe Guo, Tasnim Olatoke, Ushodaya Mattam, Rong Huang, Alan G. Zhang, Lori Pitstick, Elizabeth J. Kopras, Nishant Gupta, Roman Jandarov, Eric P. Smith, Elizabeth Fugate, Diana Lindquist, Maciej M. Markiewski, Magdalena Karbowniczek, Kathryn A. Wikenheiser-Brokamp, Kenneth D. R. Setchell, Francis X. McCormack, Yan Xu, Jane J. Yu   +23 more
doaj   +1 more source

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex

Human Genomics, 2023
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder.
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda   +8 more
doaj   +1 more source

Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

Cell Reports, 2022
Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A. Flood, William L. Stanford   +3 more
doaj   +1 more source

Repurposing metformin for cancer treatment: current clinical studies. [PDF]

, 2016
In recent years, several studies have presented evidence suggesting a potential role for metformin in anti-cancer therapy. Preclinical studies have demonstrated several anticancer molecular mechanisms of metformin including mTOR inhibition, cytotoxic ...
Altman, Jessica K, Arya, Ayush, Carneiro, Benedito, Chae, Young Kwang, Chandra, Sunandana, Giles, Francis, Kalyan, Aparna, Kaplan, Jason, Malecek, Mary-Kate, Platanias, Leonidas, Shin, Daniel Sanghoon   +10 more
core   +1 more source

Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. [PDF]

, 2015
BACKGROUND: Tuberous sclerosis complex is a multisystem genetic disease, caused by mutation in the TSC1 or TSC2 genes, associated with many features, including intellectual disability (ID).
de Vries, Petrus J, Howe, Christopher J, Lewis, Julia C, McCartney, Deborah L, Sampson, Julian R, Wong, Ho Tin   +5 more
core   +2 more sources