Results 281 to 290 of about 4,570,575 (370)

Elucidating prognostic significance of purine metabolism in colorectal cancer through integrating data from transcriptomic, immunohistochemical, and single‐cell RNA sequencing analysis

Molecular Oncology, EarlyView.
Low expression of five purine metabolism‐related genes (ADSL, APRT, ADCY3, NME3, NME6) was correlated with poor survival in colorectal cancer. Immunohistochemistry analysis showed that low NME3 (early stage) and low ADSL/NME6 (late stage) levels were associated with high risk.
Sungyeon Kim, Myunghee Kang, Soyeon Jeong, Jisup Kim, Kyoung Oh Kim, Won‐Suk Lee, Jeong‐Heum Baek, Jung Ho Kim, Seungyoon Nam   +8 more
wiley   +1 more source

Common Genetic Variants in Rare Disorders: Hematology and Beyond. [PDF]

Curr Issues Mol Biol
Evangelidis P, Gavriilaki M, Kotsiou N, Gavriilaki E.   +3 more
europepmc   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

The Frequency and Potential Implications of HFE Genetic Variants in Children With Cystic Fibrosis. [PDF]

Pediatr Pulmonol
Huang L, Lai HJ, Furuya KN, Antos NJ, Asfour F, Boyne KL, Howenstine M, Rock MJ, Sawicki GS, Gaffin JM, Worthey EA, Farrell PM.   +11 more
europepmc   +1 more source

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

Molecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu, Jianchao Wang, Fuqing Chen, Xuefeng Wang, Bin Lan, Ruyi Fu, Hong Wen, Fangfang Chen, Wei Hong, Tian‐Yu Tang, Ying He, Gang Chen, Jianyin Zhou, Hai‐Long Piao, Di Chen, Shu‐Yong Lin   +15 more
wiley   +1 more source

Rare genetic variants involved in increased risk of paroxysmal atrial fibrillation in a Japanese population. [PDF]

Sci Rep
Tabata K, Sudo T, Nagata Y, Ihara K, Asada K, Kinoshita A, Tanaka Y, Yamauchi Y, Sasaki T, Hachiya H, Imai Y, Fujita H, Sasano T, Furukawa T, Iwata T, Tanaka T.   +15 more
europepmc   +1 more source

A Genetic Linkage Map of Rat Chromosome 9 with a New Locus for Variant Activity of Liver Aldehyde Oxidase.

, 1999
Tetsuo Kunieda, Eiji Kobayashi, Motokazu TACHIBANA, Hiroshi Ikadai   +3 more
openalex   +2 more sources

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

Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients. [PDF]

Acta Derm Venereol
Skystad Kvernebo M, Grayson C, Stylianou IM, Woloshen V, Radomski C, Mørk C, Kvernebo K.   +6 more
europepmc   +1 more source

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

Molecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair, Philip König, Milena Mijović, Jessica Kalla, Anil Baskan, Loan Tran, Kristina Draganić, Pedro Morata Saldaña, Carlos Uziel Pérez Malla, Janette Pfneissl, Andreas Tiefenbacher, Julijan Kabiljo, Velina S. Atanasova, Lisa Wozelka‐Oltjan, Leonhard Müllauer, Michael Bergmann, Raheleh Sheibani‐Tezerji, Gerda Egger   +17 more
wiley   +1 more source