Results 141 to 150 of about 8,105,978 (263)

The human genome

Anales del Sistema Sanitario de Navarra, 2009
openaire   +3 more sources

National Human Genome Research Institute

The National Human Genome Research Institute (NHGRI) has many accolades to its credit, not the least being their work on sequencing the human genome. They have made substantial contributions to every sector of genomic research since their founding in ...

core  

The tale of the human genome

, 2002
review of THE COMMON THREAD: A STORY OF SCIENCE, POLITICS, ETHICS AND THE HUMAN GENOME, by John Sulston and Georgina ...
Brenner, Sydney
core  

Profiling neoadjuvant therapy response in rectal cancer using meta‐analysis of publicly available transcriptomic RNA‐seq datasets

Molecular Oncology, EarlyView.
This study integrates publicly available transcriptomic datasets to identify molecular signatures associated with response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer. By analyzing a combination of multiple cohorts with bioinformatics approaches, we reveal biological pathways and immune‐related features that may improve ...
Aleksandra Stanojevic, Rafael Stroggilos, Mladen Marinkovic, Ana Djuric, Suzana Stojanovic‐Rundic, Radmila Jankovic, Sergi Castellvi‐Bel, Remond J.A. Fijneman, Antonia Vlahou, Jerome Zoidakis, Milena Cavic   +10 more
wiley   +1 more source

A Fast and Sensitive Algorithm for Aligning ESTs to the Human Genome

, 2002
Introduction The Human Genome Project is an international collaboration, designed to investigate the genetic complexity of humans. Initially, the roughly three billion nucleotides of the human genome were elucidated (Celera Genomics , International ...
Jun Ogasawara, To The Human Genome, Shinichi Morishita   +2 more
core  

Regulation of the lncRNA NEAT1 by p53‐ΔNp63 crosstalk modulates the DNA damage response and therapeutic efficacy in HNSCC

Molecular Oncology, EarlyView.
In head and neck squamous cell carcinoma (HNSCC) p53 and p63 exert opposite roles on the transcription regulation of the lncRNA NEAT1. Under basal conditions, p53 levels are low and p63 represses NEAT1 expression. Upon genotoxic stress, p53 is rapidly induced, displacing p63 from the NEAT1 promoter leading to NEAT1 transcriptional activation and ...
Sara De Domenico, Veronica La Banca, Silvia D'Amico, Stefano Scalera, Sara Nicolai, Angelo Peschiaroli   +5 more
wiley   +1 more source

O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Genetics in Medicine Open
Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli   +11 more
doaj   +1 more source

APOBEC3 activity and DNA polymerase‐ε deficiency are associated with distinct IDH1 R132 hotspot mutations

Molecular Oncology, EarlyView.
Isocitrate dehydrogenase 1 (IDH1) mutations are highly recurrent in multiple human cancer types, including cholangiocarcinoma and glioma. IDH1 R132C is the most common IDH1 mutation in cholangiocarcinoma and likely arises from APOBEC3A‐ or APOBEC3B‐mediated deamination.
Kelly E. Butler, Bilal A. Lone, Ecem Unal, A. Rouf Banday   +3 more
wiley   +1 more source

P023: Using genomic databases to estimate rare disease prevalence: Application to disorders of propionyl-CoA oxidation

Genetics in Medicine Open
Jennifer Sloan, Camryn Hall, Irini Manoli, Charles Venditti   +3 more
doaj   +1 more source

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

Molecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault, Capucine Heraud, Mélissa Correia de Oliveira, Véronique Neaud, Valérie Valesco, Valérie Prouzet‐Mauleon, Béatrice Turcq, Jean‐William Dupuy, Anne‐Aurélie Raymond, Sabrina Croce, Frédéric Saltel, Valérie Lagrée, Violaine Moreau   +12 more
wiley   +1 more source