Results 71 to 80 of about 18,157 (223)

The TSC1 gene product, hamartin, negatively regulates cell proliferation [PDF]

Human Molecular Genetics, 2000
Tuberous sclerosis is an autosomal dominant hereditary disease caused by mutations in either the TSC1 or the TSC2 tumor suppressor gene. The TSC1 gene on chromosome 9q34 encodes a 130 kDa protein named hamartin, and the TSC2 gene on chromosome 16p13.3 codes for tuberin, a 200 kDa protein.
Miloloza, A, Rosner, M, Nellist, Mark, Halley, Dicky, Bernaschek, G, Hengstschläger, M   +5 more
openaire   +3 more sources

Pathogenesis of Age‐Related Hearing Loss and Therapeutic Strategies

Sensory Neuroscience, EarlyView.
ABSTRACT Age‐related hearing loss (ARHL) is a degenerative disorder of the auditory system, characterized by bilateral symmetrical sensorineural hearing loss that occurs with aging. As a highly prevalent age‐related condition worldwide, ARHL significantly impairs both the quality of life and mental health of the elderly.
Yu Xiao, Jiaxin Liu, Xiaohan Zhang, Miao Chang, Cheng Cheng, Yunhao Wu, Xiaolong Fu   +6 more
wiley   +1 more source

Loss of macrophage TSC1 exacerbates sterile inflammatory liver injury through inhibiting the AKT/MST1/NRF2 signaling pathway

Cell Death and Disease
Tuberous sclerosis complex 1 (TSC1) plays important roles in regulating innate immunity. However, the precise role of TSC1 in macrophages in the regulation of oxidative stress response and hepatic inflammation in liver ischemia/reperfusion injury (I/R ...
Ming Ni, Jiannan Qiu, Guoqing liu, Xiaohu Sun, Wenjie Zhu, Peng Wu, Zheng Chen, Jiajing Qiu, Ziming Wu, Yang Zhang, Feng Zhang, Changyong Li, Yuan Gao, Jun Zhou, Qiang Zhu   +14 more
doaj   +1 more source

Stochastic Model of Tsc1 Lesions in Mouse Brain

PLoS ONE, 2013
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder due to mutations in either TSC1 or TSC2 that affects many organs with hamartomas and tumors. TSC-associated brain lesions include subependymal nodules, subependymal giant cell astrocytomas and tubers.
Shilpa, Prabhakar, June, Goto, Xuan, Zhang, Xuan, Zuang, Miguel, Sena-Esteves, Roderick, Bronson, Jillian, Brockmann, Davide, Gianni, Gregory R, Wojtkiewicz, John W, Chen, Anat, Stemmer-Rachamimov, David J, Kwiatkowski, Xandra O, Breakefield   +12 more
openaire   +5 more sources

Synergistic antiviral activity against human adenovirus through combination of itraconazole and brincidofovir

British Journal of Pharmacology, EarlyView.
Background and Purpose Human adenovirus (HAdV) causes respiratory or gastrointestinal tract infections depending on the virus subtype. While HAdV infections are generally self‐limiting in immunocompetent people, they can result in significant morbidity and mortality in immunocompromised adults and children.
Mohamed Zamzamy, Sophie Post, Wing Hang Ip, Elin Hahlin, Sebastian Kühn, Andrea Pirosu, Christian Conze, Martin Baumdick, Hamburg Intestinal Study Group, Madeleine J. Bunders, Britta F. Zecher, Angelique Hoelzemer, Stephan Linder, Niklas Arnberg, Thomas Dobner, Marcus Altfeld, Sebastian Schloer   +16 more
wiley   +1 more source

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

Clinical outcomes following stereotactic MRI‐guided laser ablation in children with tuberous sclerosis complex and intractable epilepsy

Epilepsia, EarlyView.
Abstract Objective In children with tuberous sclerosis complex (TSC) and drug‐resistant epilepsy (DRE), magnetic resonance imaging–guided stereotactic laser ablation (SLA) therapy offers less‐invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long‐term outcomes in patients with TSC‐related DRE who have ...
Chelsey Ortman, Rohini Coorg, Irfan Ali, Dave Clarke, Gloria Diaz‐Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M. Ravindra, James J. Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T. Freiling, Karen Evankovich, Yingchao Yuan, Kalman A. Katlowitz, Daniel Curry, Howard L. Weiner, Anne Anderson   +23 more
wiley   +1 more source

Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts [PDF]

, 2021
Jasbir Dalal, Kellen D. Winden, Catherine L. Salussolia, Maria Sundberg, Achint K. Singh, Pingzhu Zhou, William T. Pu, Meghan T. Miller, Mustafa Şahin   +8 more
openalex   +1 more source

Adult granulosa cell tumours of the testis analogous to ovarian counterparts are exceptionally rare: analysis of a multicentric series and review of the literature

Histopathology, EarlyView.
Assessment of twenty testicular AGCTs with two different next‐generation sequencing (NGS) panels reveals differences with ovarian AGCTs, including absence of hotspot FOXL2 variants. Aims Testicular adult granulosa cell tumours (AGCTs) are rare and show several clinical–pathological differences with their ovarian counterparts.
Costantino Ricci, Dario de Biase, Thais Maloberti, Agnese Orsatti, Thomas M Ulbright, Muhammad T Idrees, Esther Oliva, Kristine Cornejo, João Lobo, Kvetoslava Michalova, Maria Rosaria Raspollini, Sean R Williamson, Geert JLH van Leenders, Chia‐Sui Kao, Fiona Maclean, Ankur R Sangoi, Adeboye O Osunkoya, Michelangelo Fiorentino, Antonio De Leo, Giovanni Tallini, Andres Martin Acosta   +20 more
wiley   +1 more source

Papillary renal cell carcinoma, formerly known as Type 2: a single institutional study addressing histologic and molecular features

Histopathology, EarlyView.
Papillary renal cell carcinoma (pRCC) accounts for 15%–20% of RCC cases and is the second most common histologic subtype of RCC. In contrast to other common RCC subtypes, there continues to be ongoing debate about how to classify RCCs with papillary architecture and eosinophilic cytoplasm, given the heterogeneity of histologic, IHC and molecular ...
Melissa Yuwono Tjota, Jung Woo Kwon, Pankhuri Wanjari, Tatjana Antic   +3 more
wiley   +1 more source