Results 41 to 50 of about 199,597 (317)

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

Molecular Genetics & Genomic Medicine, 2020
Background Neural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete.
Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley‐Koch, Alanna C. Morrison, Hope Northrup, Kit Sing Au   +8 more
doaj   +1 more source

Gender Disparity and Mutation Burden in Metastatic Melanoma [PDF]

Journal of the National Cancer Institute, 2015
Gender differences in melanoma incidence and outcome have been consistently observed but remain biologically unexplained. We hypothesized that tumors are genetically distinct between men and women and analyzed the mutation spectra in 266 metastatic melanomas (102 women and 164 men) from The Cancer Genome Atlas (TCGA).
Sameer, Gupta, Mykyta, Artomov, William, Goggins, Mark, Daly, Hensin, Tsao   +4 more
openaire   +2 more sources

m6A‐Mediated Methylation Patterns and Their Association With Obstructive Sleep Apnea in Lung Adenocarcinoma

Cancer Reports
Background Epigenetic regulation significantly affects immune responses in lung adenocarcinoma (LUAD). However, the role of RNA N6‐methyladenosine (m6A) modification, especially in obstructive sleep apnea‐hypopnea syndrome (OSAHS) within LUAD, is not ...
Lei Xia, Zhuodong Chai, Xiaoying Wei, Yuan Wei, Daxiong Zeng, Junhong Jiang, Jing Li   +6 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Prevalence and mutational determinants of high tumor mutation burden in breast cancer [PDF]

Annals of Oncology, 2019
Abstract Background High tumor mutation burden (TMB) has been associated with benefit to immunotherapy in multiple tumor types. However, the prevalence of hypermutated breast cancer is not well described.
Barroso-Sousa, R., Jain, E., Cohen, O., Kim, D., Buendia-Buendia, J., Winer, E., Lin, N., Tolaney, S.M., Wagle, N.   +8 more
openaire   +2 more sources

Genomic and immunologic correlates of LAG-3 expression in cancer

OncoImmunology, 2020
Immune checkpoint blockade leads to unprecedented responses in many cancers. Although currently available agents mostly target the PD-1 and CTLA-4 pathways, agents targeting the immune checkpoint protein LAG-3 are under active clinical development, and ...
Anshuman Panda, Jeffrey A. Rosenfeld, Eric A. Singer, Gyan Bhanot, Shridar Ganesan   +4 more
doaj   +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

Accumulating Heterozygous Deleterious Mutations in Conserved Soybean Germplasm over Successive Regenerations

Plants
More than 5.9 million plant germplasm accessions currently conserved in over 850 national genebanks worldwide will accumulate deleterious mutations over long-term conservation.
Yong-Bi Fu, Carolee Horbach
doaj   +1 more source

TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study

Frontiers in Oncology, 2022
Limited data exists to show the correlation of (tumour protein 53) TP53 mutation detected by Next generation sequencing (NGS) and the presence/absence of deletions of 17p13 detected by FISH. The study which is the largest series to date includes 2332 CLL
Mark A. Catherwood, Dorte Wren, Laura Chiecchio, Doriane Cavalieri, David Donaldson, Sarah Lawless, Ezzat ElHassadi, Amjad Hayat, Mary R. Cahill, Derville O’Shea, Jeremy Sargent, Peter Stewart, Manisha Maurya, John Quinn, Philip Murphy, David Gonzalez de Castro, Ken Mills, Nicholas C. P. Cross, Nicholas C. P. Cross, Francesco Forconi, Sunil Iyengar, Anna Schuh, Patrick Thornton   +22 more
doaj   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source