Results 51 to 60 of about 1,282,741 (306)

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life [PDF]

, 2007
Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root ganglia (DRG) results in progressive ataxia.
Ramussen, A, De Biase, Irene, Monticelli, A, Bidichandani, Sanjay I., De Biase, I, Al-Mahdawi, S, Pook, Mark, Cocozza, S, Al-Mahdawi, Sahar, Pook, M A, Bidichandani, S, Monticelli, Antonella, Rasmussen, Astrid, Cardone MF, RASMUSSEN A, D'ADDABBO, PIETRO, Teti MG, POOK M, Misceo D, MONTICELLI A, ARCHIDIACONO, Nicoletta, VENTURA, MARIO, BIDICHANDANI SI, ROCCHI, Mariano, COCOZZA, SERGIO, Capozzi O, Lomiento M, DE BIASE I, AL MAHDAWI S, Roberto R   +29 more
core   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

Vacuum Instability

Foundations of Physics Letters, 2006
Following fresh attempts to resolve the problem of the energy density of the vacuum, we reconsider the case where the cosmological constant is derived from a higher-dimensional version of general relativity, and interpret the gauge-dependence of $Λ$ as a dynamical effect.
openaire   +2 more sources

Analysis of Surface Runoff and Ponding Infiltration Patterns Induced by Underground Block Caving Mining—A Case Study

Applied Sciences
Surface subsidence induced by underground mining in mining areas significantly alters surface topography and hydrogeological conditions, forming depressions and fissures, thereby affecting regional runoff-ponding processes and groundwater infiltration ...
Shihui Jiao, Yong Zhao, Tianhong Yang, Xin Wen, Qingshan Ma, Qianbai Zhao, Honglei Liu   +6 more
doaj   +1 more source

Inhibition of cyclin‐dependent kinases 12/13 using CT7439 as a treatment for colorectal cancer with CDK12 upregulation

Molecular Oncology, EarlyView.
The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington, Divya L. Dayanidhi, Mohammad Zokaasadi, John B. Mantyh, Pelumi D. Olawuni, Gabrielle Rupprecht, Jeremy M. Force, Shannon McCall, Ashwani K. Bahl, David S. Hsu, Jason A. Somarelli   +10 more
wiley   +1 more source

An in silico analysis identifies drugs potentially modulating the cytokine storm triggered by SARS-CoV-2 infection

Scientific Reports, 2022
The ongoing COVID-19 pandemic is one of the biggest health challenges of recent decades. Among the causes of mortality triggered by SARS-CoV-2 infection, the development of an inflammatory “cytokine storm” (CS) plays a determinant role.
Laura Sanchez-Burgos, Gonzalo Gómez-López, Fátima Al-Shahrour, Oscar Fernandez-Capetillo   +3 more
doaj   +1 more source

Cancer‐associated mutations in endometriosis reframe a benign disease through molecular oncology

Molecular Oncology, EarlyView.
This review aims to comprehensively analyse cancer‐associated somatic mutations (CAMs) present in endometriotic lesions, emphasizing their biological roles, spatial distribution and implications for translational applications in medicine. By contextualizing a benign state within a genomic framework, this analysis seeks to establish its value as a ...
Clarissa Mujacic, Maria Concetta Vitale, Rita Siino, Emilia Di Giovanni, Carla Ferrante Bannera, Enrico Di Marco, Andrea Gottardo, Tancredi Didier Bazan Russo, Nadia Barraco, Alessandro Perez, Valerio Gristina, Antonio Galvano, Giuseppe Badalamenti, Antonio Russo, Viviana Bazan, Lorena Incorvaia   +15 more
wiley   +1 more source

Integrated Physical Microstructure and Mechanical Performance Analysis of the Failure Mechanism of Weakly Cemented Sandstone Under Long-Term Water Immersion

Applied Sciences
The duration of water immersion significantly affects the mechanical response of rock materials. This study investigated the weakly cemented sandstone from the Wulagen Open-pit Mine to examine how varying immersion times affected the mineral composition,
Honglei Liu, Shixian Zhang, Wenxue Deng, Jinduo Li, Tianhong Yang, Jianhua Zhou   +5 more
doaj   +1 more source

A prediction model for surface deformation caused by underground mining based on spatio-temporal associations

Geomatics, Natural Hazards & Risk, 2022
Accurate predictions of the surface deformation caused by underground mining are crucial for the safe development of underground resources. Although surface deformation has been predicted by artificial intelligence (AI) methods, most AI models are ...
Min Ren, Guanwen Cheng, Wancheng Zhu, Wen Nie, Kai Guan, Tianhong Yang   +5 more
doaj   +1 more source