Results 141 to 150 of about 2,355,082 (334)

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

The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox

Frontiers in Cell and Developmental Biology, 2022
Swetha Ramadesikan, Jennifer Lee, Ruben Claudio Aguilar   +2 more
doaj   +1 more source

Clinical Spectrum, Diagnosis, and Management of TANGO2 Deficiency Disorder: A Comprehensive Review

Quality in Sport
TANGO2 deficiency disorder is an autosomal recessive disease caused by biallelic pathogenic variants in the TANGO2 gene. First described in 2016, the disorder is characterized by acute metabolic crises, neurological dysfunctions, developmental delays ...
Marcin Dołęga, Piotr Gacka, Olgierd Dróżdż, Joanna Gołda, Julia Mężyk, Aleksandra Snopkowska   +5 more
doaj   +1 more source

Hyperlipidemia in Coronary Heart Disease III. EVALUATION OF LIPOPROTEIN PHENOTYPES OF 156 GENETICALLY DEFINED SURVIVORS OF MYOCARDIAL INFARCTION [PDF]

, 1973
William R. Hazzard, Joseph L. Goldstein, Helmut G. Schrott, Arno G. Motulsky, Edwin L. Bierman   +4 more
openalex   +1 more source

Sex-Biased Gene Flow Among Elk in the Greater Yellowstone Ecosystem [PDF]

, 2014
We quantified patterns of population genetic structure to help understand gene flow among elk populations across the Greater Yellowstone Ecosystem.
Anderson, Neil, Beja-Pereira, Albano, Chen, Shanyuan, Cross, Paul C., Ebinger, Michael, Edwards, Hank, Garrott, Robert A., Hand, Brian K., Kardos, Marty D., Kauffman, Matt, Landguth, Erin L., Luikart, Gordon, Middleton, Arthur, Schwartz, Michael K., Scurlock, Brandon, White, P.J., Zager, Pete   +16 more
core   +1 more source

Chemoresistome mapping in individual breast cancer patients unravels diversity in dynamic transcriptional adaptation

Molecular Oncology, EarlyView.
This study used longitudinal transcriptomics and gene‐pattern classification to uncover patient‐specific mechanisms of chemotherapy resistance in breast cancer. Findings reveal preexisting drug‐tolerant states in primary tumors and diverse gene rewiring patterns across patients, converging on a few dysregulated functional modules. Despite receiving the
Maya Dadiani, Gilgi Friedlander, Gili Perry, Nora Balint‐Lahat, Shlomit Gilad, Dana Morzaev‐Sulzbach, Anjana Shenoy, Noa Bossel Ben‐Moshe, Anya Pavlovsky, Rinat Bernstein‐Molho, Eytan Domany, Iris Barshack, Tamar Geiger, Bella Kaufman, Einav Nili Gal‐Yam   +14 more
wiley   +1 more source

Prenatal Diagnosis of Genetic Disease [PDF]

, 1978

openalex   +1 more source

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

Molecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes   +17 more
wiley   +1 more source

Individuals at risk in families with genetic disease. [PDF]

, 1971
Caroline L. Smith, Susan M. Holloway, Alan E H Emery   +2 more
openalex   +1 more source

Expression and DNA methylation of 20S proteasome subunits as prognostic and resistance markers in cancer

Molecular Oncology, EarlyView.
Comprehensive analysis of genomic mutations, gene expression, DNA methylation, and pathway analysis of TCGA data was carried out to define cancer types in which proteasome subunits expression is associated with worse survival. Albeit the effect of specific proteasome subunits on cellular function, the main role of the proteasome is better evaluated ...
Ruba Al‐Abdulla, Simone Venz, Ruslan Al‐Ali, Martin Wendlandt, Mandy Radefeldt, Elke Krüger   +5 more
wiley   +1 more source