Results 101 to 110 of about 2,026,261 (344)

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Data‐driven discovery of gene expression markers distinguishing pediatric acute lymphoblastic leukemia subtypes

Molecular Oncology, EarlyView.
This study investigates gene expression differences between two major pediatric acute lymphoblastic leukemia (ALL) subtypes, B‐cell precursor ALL, and T‐cell ALL, using a data‐driven approach consisting of biostatistics and machine learning methods. Following analysis of a discovery dataset, we find a set of 14 expression markers differentiating the ...
Mona Nourbakhsh, Nikola Tom, Anna Schrøder Lassen, Helene Brasch Lind Petersen, Ulrik Kristoffer Stoltze, Karin Wadt, Kjeld Schmiegelow, Matteo Tiberti, Elena Papaleo   +8 more
wiley   +1 more source

Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype

Journal of Rare Diseases
Introduction Wilms tumor 1 (WT1)-related disorders are a group of hereditary disorders caused by alterations in the WT1 gene. WT1 expression is critical for the maturation of many organs, such as the gonads, kidneys, and spleen.
Heba A. Hassan, Inas Mazen, Mona K. Mekkawy, Aya Elaidy, Alaa Kamel, Mona L. Essawi   +5 more
doaj   +1 more source

MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells

Epigenetics & Chromatin, 2019
Background The MAPK/ERK signaling pathway is an essential regulator of numerous cell processes that are crucial for normal development as well as cancer progression.
Temesgen D. Fufa, Laura L. Baxter, Julia C. Wedel, Derek E. Gildea, NISC Comparative Sequencing Program, Stacie K. Loftus, William J. Pavan   +6 more
doaj   +1 more source

MicroRNA 196a contributes to the aggressiveness of esophageal adenocarcinoma through the MYC/TERT/NFκB axis

Molecular Oncology, EarlyView.
mir‐196a promotes Esophagus Adenocarcinoma aggressiveness. On one hand, mir‐196a targets the valosin‐containing protein (VCP) mRNA, causing the accumulation of c‐MYC protein that leads to high amounts of TERT. On the other hand, mir‐196a targets the inhibitor of NFκB (NFKBIA).
Jesús García‐Castillo, Carlos M. Martínez‐Cáceres, Manuel Bernabé‐García, Vicente Munitiz, David Ruiz de Angulo, Pascual Parrilla, Ángeles Ortiz, Luisa F. Martínez de Haro, María L. Cayuela   +8 more
wiley   +1 more source

Diffusion Approximations for Demographic Inference: DaDi [PDF]

, 2010
Models of demographic history (population sizes, migration rates, and divergence times) inferred from genetic data complement archeology and serve as null models in genome scans for selection. Most current inference methods are computationally limited to
Carlos D. Bustamante, Ryan D. Hernandez, Ryan N. Gutenkunst, Scott H. Williamson   +3 more
core   +1 more source

P035: Estimating the carrier frequency and prevalence of inborn errors of propionate and cobalamin metabolism using population databases

Genetics in Medicine Open, 2023
Jennifer Sloan, Irini Manoli, Charles Venditti   +2 more
doaj   +1 more source

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

Egyptian Journal of Medical Human Genetics, 2020
Background Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease.
Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury, Mona Lotfi Essawi   +4 more
doaj   +1 more source

Comprehensive omics‐based classification system in adult patients with B‐cell acute lymphoblastic leukemia

Molecular Oncology, EarlyView.
The COMBAT classification system, developed through multi‐omics integration, stratifies adult patients with B‐cell acute lymphoblastic leukemia(B‐ALL) into three molecular subtypes with distinct surface antigen patterns, immune landscape, methylation patterns, biological pathways and prognosis.
Yang Song, Ting Liu, Qishan Hao, Qiuyun Fang, Xiaoyuan Gong, Yan Li, Zheng Tian, Hui Wei, Min Wang, Jianxiang Wang, Tao Cheng, Yingchang Mi   +11 more
wiley   +1 more source

Underlying Mathematics in Diversification of Human Olfactory Receptors in Different Loci [PDF]

, 2010
As per conservative estimate, approximately (51-105) Olfactory Receptors (ORs) loci are present in human genome occurring in clusters. These clusters are apparently unevenly spread as mosaics over 21 pair of human chromosomes.
Arunava Goswami, Pabitra Pal Choudhury, Sk. Sarif Hassan   +2 more
core   +1 more source