Results 71 to 80 of about 20,510 (176)

Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome [PDF]

Japanese Journal of Clinical Oncology, 2014
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively.
Nur Farrah Dila, Ismail, Nik Mohd Ariff, Nik Abdul Malik, Jafar, Mohseni, Abdulqawee Mahyoob, Rani, Fatemeh, Hayati, Abdul Razak, Salmi, Mohd Yusof, Narazah, Z A M H, Zabidi-Hussin, Abdul Rashid, Silawati, Wee Teik, Keng, Lock Hock, Ngu, Teguh Haryo, Sasongko   +11 more
openaire   +2 more sources

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

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

Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.

PLoS ONE, 2010
Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited renal disorder caused by defects in the PKD1 or PKD2 genes. ADPKD is associated with significant morbidity, and is a major underlying cause of end-stage renal failure (ESRF ...
Ruhee Dere, Patricia D Wilson, Richard N Sandford, Cheryl Lyn Walker   +3 more
doaj   +1 more source

Molecular pathology of phyllodes tumours of the breast—much more than MED12

Histopathology, EarlyView.
Phyllodes tumours can develop from fibroadenomas bearing MED12 variants by the development of pTERT alterations (“MED12 pathway”) or de novo (“MED12 independent pathway”). Grade progression is associated with increasing genetic complexity including cancer driver gene aberrations. Molecular alterations can be useful in assigning grade and distinguishing
Jia‐Min B Pang, Kylie L Gorringe, Puay Hoon Tan, Stephen B Fox   +3 more
wiley   +1 more source

Hypoxia and hypercapnia elicit overlapping but distinct skeletal muscle toxicities

The Journal of Physiology, EarlyView.
Abstract figure legend Hypoxia and hypercapnia cause overlapping skeletal muscle phenotypes, including atrophy, change in myofibre metabolic profile and myogenic response to injury. Both signals operate via distinct cellular pathways. Abstract Skeletal muscle dysfunction is strongly associated with elevated mortality in acute and chronic pulmonary ...
Joseph Balnis, Ariel Jaitovich
wiley   +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

NSAID ingestion augments training‐induced muscle hypertrophy and differentially affects muscle mRNA expression, but not strength gains, in trained men

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic outlining the impact of NSAID ingestion on resistance exercise training‐induced changes in muscle morphology, function and gene networks relative to placebo ingestion in trained males. Abstract Non‐steroidal anti‐inflammatory drugs (NSAIDs) are widely overused in sports.
Joanne E. Mallinson, Tariq Taylor, Dumitru Constantin‐Teodosiu, Despina Constantin, Martino V. Franchi, Dorothee Auer, Paul L. Greenhaff   +6 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 800-806, April 2026.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
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