Results 81 to 90 of about 4,953,128 (334)

Population medical genetics: translating science to the community

Genetics and Molecular Biology, 2019
Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients.
R. Giugliani, Fernanda Bender, R. Couto, A. Bochernitsan, A. Brusius-Facchin, M. Burin, Tatiana Amorim, A. Acosta, Antônio Purificação, Sandra Leistner-Segal, M. Saraiva-Pereira, L. Jardim, U. Matte, M. Riegel, A. C. Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, A. Tagliani‐Ribeiro, Selia Heck, Vanusa Dresch, L. Schuler‐Faccini, Francyne Kubaski   +21 more
semanticscholar   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

The morality of assisted reproduction and genetic manipulation

Cadernos de Saúde Pública
The author analyzes the pros and cons of various forms of assisted reproduction, including the use of so-called 'genetic manipulation'. He shows how in ethics the only arguments with any chance of reaching a consensus (or at least an agreement) are those
Maurizio Mori
doaj  

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]

F1000Research, 2017
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss.
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen   +18 more
doaj   +1 more source

Medical genetics and genomic medicine in Nigeria

Molecular Genetics & Genomic Medicine, 2018
Medical genetics and genomic medicine in Nigeria.
A. Adeyemo, O. Amodu, Ekanem Ekure, O. Omotade   +3 more
semanticscholar   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Identifying knowledge deficiencies in genetics education among medical students and interns in Saudi Arabia- A cross-sectional study

BMC Medical Education
Background Understanding genetics is crucial for medical students, particularly in Saudi Arabia, where genetic disorders are prevalent owing to high rates of consanguineous marriages.
Abeer F. Zakariyah, Sadin A. Alamri, Manal M. Alzahrani, Aseel A. Alamri, Muhammad A. Khan, Mehenaz A. Hanbazazh   +5 more
doaj   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Assessment of TSPO Gene Expression Levels in Colorectal Cancer Tumors: A Paired Sample Study

Cancer Reports
Background and Aim Colorectal cancer (CRC) is the second leading cause of cancer‐related deaths. Early detection through screening is crucial for improving treatment outcomes.
Hamidreza Karami Gorji, Mehdi Karimi, Masoud Mortezazadeh, Niyousha Shirsalimi, Sheyda Akhshabi, Alireza Yousefi Ladmakhi, Mehdi Kashani, Seyyed Taher Seyyed Mahmoudi, Abbas Mofidi, Abolhasan Rezaei   +9 more
doaj   +1 more source

Multi‐omic characterization of consensus molecular subtype 1 (CMS1) colorectal cancer with dampened immune response improves precision medicine

Molecular Oncology, EarlyView.
This study highlights the importance of multi‐omic analyses in characterizing colorectal cancers. Indeed, our analysis revealed a rare CMS1 exhibiting dampened immune activation, including reduced PD‐1 expression, moderate CD8+ T‐cell infiltration, and suppressed JAK/STAT pathway.
Livia Concetti, Manuel Scimeca, Julia Bischof, Jonathan Woodsmith, Massimiliano Agostini, Cristina Fiorani, Yufang Shi, Eleonora Candi, Gerry Melino, Alessandro Mauriello, Giuseppe S. Sica   +10 more
wiley   +1 more source