Results 101 to 110 of about 18,157 (223)

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity [PDF]

, 2023
Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent S. Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred F. J. van IJcken, Aglaia Vignoli, Gaetano Bulfamante, John C. Carey, Maria Paola Canevini   +23 more
openalex   +1 more source

microRNA-19a protects osteoblasts from dexamethasone via targeting TSC1

Oncotarget, 2017
Activation of mTOR complex 1 (mTORC1) could protect human osteoblasts from dexamethasone. Tuberous sclerosis complex 1 (TSC1) is mTORC1 upstream inhibitory protein. We demonstrate here that microRNA-19a ("miR-19a", -3p) targets the 3' untranslated regions of TSC1 mRNA.
Liu, Gang, Chen, Feng-Li, Ji, Feng, Fei, Hao-Dong, Xie, Yue, Wang, Shou-Guo   +5 more
openaire   +3 more sources

Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype—Phenotype Correlations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this paper, we describe a common recurrent founder variant in the BRCA gene that was observed in the native Qatari population among high‐risk individuals seen in the cancer genetic clinic at the National Center for Cancer Care and Research. BRCA gene is associated with Hereditary breast and ovarian cancer syndrome (HBOC); it is very common in Qatar ...
Salha Bujassoum Al‐Bader, Hajer Al‐Mulla, Hind Al‐Habish, Sitti Kusasi, Nema Abduo, Nawal Bakheet, Hafedh Ghazouani, Mariem Sidenna, Fatemeh Abbaszadeh, Reem Alsulaiman   +9 more
wiley   +1 more source

TSC1 and DEPDC5 regulate HIV-1 latency through the mTOR signaling pathway [PDF]

, 2018
Shan Jin, Qibin Liao, Jian Chen, Linxia Zhang, Qian He, Huanzhang Zhu, Xiaoyan Zhang, Jianqing Xu   +7 more
openalex   +1 more source

miR-926-3p influences myocardial injury in septic mice through regulation of mTOR signaling pathway by targeting TSC1 [PDF]

, 2023
Feng Yan, Qian Wang, Huiyu Yang, Hui Lv, Weiwei Qin   +4 more
openalex   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation [PDF]

, 1999
Marjon van Slegtenhorst, Senno Verhoef, A.M.P. Tempelaars, Lida Bakker, Qi Wang, Marja W. Wessels, Remco Bakker, Mark Nellist, Dick Lindhout, Dicky Halley, Ans van den Ouweland   +10 more
openalex   +1 more source

Hemangioblastoma of the Kidney—A Comprehensive Clinical, Pathological, and Genetic Analysis of Four Cases

APMIS, Volume 134, Issue 1, January 2026.
ABSTRACT Hemangioblastoma (HB) is a benign central nervous system (CNS) tumor associated with mutations in the von Hippel–Lindau (VHL) gene. Although rare outside the CNS, the pathological and genetic features remain poorly understood. We analyzed four renal hemangioblastomas (RHB). Demographics, clinical presentation, and follow‐up data were collected.
Boglárka Pósfai, Alex Jenei, Gertrúd Forika, Attila Fintha, Zoltán Sápi, Áron Somorácz, Borbála Dénes, Ferenc Salamon, Kornélia Veronika Eizler, Nándor Giba, Dávid Semjén, Ildikó Illyés, Kristóf Attila Kovács, Gyöngyi Munkácsy, János Papp, Fanni Sánta, Henriett Butz, Levente Kuthi   +17 more
wiley   +1 more source

Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex [PDF]

, 2004
James Brugarolas, Kui Lei, Rebecca L. Hurley, Brendan D. Manning, Jan H. Reiling, Ernst Hafen, Lee A. Witters, Leif W. Ellisen, William G. Kaelin   +8 more
openalex   +1 more source

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science, Volume 19, Issue 1, January 2026.
ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen, Benjamin Q. Duong, Jordan Brady, Pamela Arn   +3 more
wiley   +1 more source