Results 101 to 110 of about 37,863 (256)

Mapping the mammalian ribosome quality control complex interactome using proximity labeling approaches. [PDF]

, 2018
Previous genetic and biochemical studies from Saccharomyces cerevisiae have identified a critical ribosome-associated quality control complex (RQC) that facilitates resolution of stalled ribosomal complexes.
Bennett, Eric J, Ghosh, Arit, Leonard, Marilyn, Liao, Jeffrey, Yang, Bing, Zuzow, Nathan   +5 more
core   +2 more sources

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

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

BMC Medical Genetics, 2008
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues.
Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky   +9 more
doaj   +1 more source

Ribosome profiling in mouse hippocampus: plasticity-induced regulation and bidirectional control by TSC2 and FMRP

Molecular Autism, 2020
Background Mutations in TSC2 are the most common cause of tuberous sclerosis (TSC), a disorder with a high incidence of autism and intellectual disability.
Annie Hien, Gemma Molinaro, Botao Liu, Kimberly M. Huber, Joel D. Richter   +4 more
doaj   +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

Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities

Stem Cell Reports, 2017
Summary: Tuberous sclerosis complex (TSC) is a disease featuring devastating and therapeutically challenging neurological abnormalities. However, there is a lack of specific neural progenitor cell models for TSC.
Yaqin Li, Jiqing Cao, Menglong Chen, Jing Li, Yiming Sun, Yu Zhang, Yuling Zhu, Liang Wang, Cheng Zhang   +8 more
doaj   +1 more source

Autophagy in DNA Damage Response [PDF]

, 2015
DNA damage response (DDR) involves DNA repair, cell cycle regulation and apoptosis, but autophagy is also suggested to play a role in DDR. Autophagy can be activated in response to DNA-damaging agents, but the exact mechanism underlying this activation ...
Elzbieta Pawlowska, Janusz Blasiak, Jolanta Bialkowska-Warzecha, Kai Kaarniranta, Piotr Czarny   +4 more
core   +2 more sources

LAT1/SLC7A5‐mediated amino acid uptake is regulated by redox signals triggered by formyl‐peptide receptor 2

The FEBS Journal, EarlyView.
FPR2 activation mediates NOX‐dependent LAT1 expression and, in turn, promotes mTORC1 signaling. Upon stimulation with WKYMVm, the FPR2‐NOX2‐ROS axis upregulates LAT1 via increased c‐Myc phosphorylation and decreased miR‐126. Additionally, it promotes CD98 translocation to the plasma membrane.
Myrhiam Cassese, Chiara Brignola, Stefano Marrone, Gabriella Esposito, Rosario Ammendola, Fabio Cattaneo   +5 more
wiley   +1 more source

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex [PDF]

, 2009
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
AC Jones, Ans van den Ouweland, David Kwiatkowski, DH Lee, Dicky Halley, DT Jones, ES Roach, IF Fokkema, J Huang, Johan T den Dunnen, Julian Sampson, K-S Au, LS Pymar, M Nellist, M Nellist, M Nellist, M Nellist, M Rosner, M van Slegtenhorst, M van Slegtenhorst, Marianne Hoogeveen-Westerveld, Mark Nellist, Melika Mozaffari, O Sancak, PC Ng, PC Ng, R Adamczak, R Coevoets, R Grantham, RG Cotton, Rosemary Ekong, S Henikoff, SL Cai, SL Dabora, Sue Povey, The European Chromosome 16 Tuberous Sclerosis Consortium, Y Li, Y Niida   +37 more
core   +7 more sources

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