Results 171 to 180 of about 40,807 (310)
Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT) [PDF]
, 1997 I van Bakel
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Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes +6 more
wiley +1 more source
Allelic Loss at the Tuberous Sclerosis (Tsc2) Gene Locus in Spontaneous Uterine Leiomyosarcomas and Pituitary Adenomas in the Eker Rat Model [PDF]
, 1995 Yoshiaki Kubo +5 more
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Hepatology Research, Volume 55, Issue 8, Page 1193-1203, August 2025.Hepatocellular carcinoma (HCC) in the hepatitis C virus (HCV)‐sustained virologic response (SVR) group was associated with alcohol consumption and metabolic diseases and showed significantly lower rates of ARID2 alterations and AXIN1 alterations compared to the HCV‐non‐SVR group, with a mutational profile resembling that of the steatotic liver disease ...
Fukiko Kawai‐Kitahata +21 more
wiley +1 more source
Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3. [PDF]
, 1996 Timothy C. Burn +6 more
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Journal of Cellular and Molecular Medicine, Volume 29, Issue 15, August 2025.ABSTRACT Doxorubicin (DOX) is an effective chemotherapy drug, but its use is limited by cardiotoxicity, known as DOX‐induced cardiomyopathy. The transcription factor FoxO3, which regulates autophagy and oxidative stress, has unclear mechanisms in this condition.
Zao‐Shang Chang +8 more
wiley +1 more source
Variants within TSC2 exons 25 and 31 are very unlikely to cause clinically diagnosable tuberous sclerosis [PDF]
, 2016 Inactivating mutations in TSC1 and TSC2 cause tuberous sclerosis complex (TSC). The 2012 international consensus meeting on TSC diagnosis and management agreed that the identification of a pathogenic TSC1 or TSC2 variant establishes a diagnosis of TSC ...
Dawson, NL +6 more
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Psychiatry and Clinical Neurosciences, Volume 79, Issue 8, Page 435-446, August 2025.Next‐generation sequencing has identified risk genes with large effect sizes for autism spectrum disorders (ASD). Although functional analysis of individual risk genes has progressed, the overall picture of ASD pathogenesis is unclear. Therefore, there is a need for morphological profiling of variants in these genes to fully comprehend their ...
Reza K. Arta +4 more
wiley +1 more source
TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth [PDF]
, 2001 Xinsheng Gao, Duojia Pan
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International Journal of Cancer, Volume 157, Issue 2, Page 305-316, 15 July 2025.What's new? Cervical cancer screening programmes could benefit from an accurate triage test for human papillomavirus‐positive women based on self‐sampling. This epigenome‐wide association study examined a large number of cervical cancers and cervical intraepithelial neoplasias grade 3 (CIN3) compared to controls using the 850 k EPIC methylation array ...
Sarah J. Bowden +9 more
wiley +1 more source