Diagnostic and therapeutic potential of RNASET2 in Crohn’s disease: Disease-risk polymorphism modulates allelic-imbalance in expression and circulating protein levels and recombinant-RNASET2 attenuates pro-inflammatory cytokine secretion

Autor: Eva Biener-Ramanujan, Florian Rosier, Simon G. Coetzee, Dermot D. P. McGovern, Dennis Hazelett, Stephan R. Targan, Rivkah Gonsky

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

Ribonuclease T2 gene (RNASET2) variants are associated in genome wide association studies (GWAS) with risk for several autoimmune diseases, including Crohn’s disease (CD). In T cells, a functional and biological relationship exists between TNFSF15-

Externí odkaz: https://doaj.org/article/f805e64266754b1e95e29caa4b3ed0b0

POLE-Mutant Colon Cancer Treated with PD-1 Blockade Showing Clearance of Circulating Tumor DNA and Prolonged Disease-Free Interval

Autor: Mihir Bikhchandani, Farin Amersi, Andrew Hendifar, Alexandra Gangi, Arsen Osipov, Karen Zaghiyan, Katelyn Atkins, May Cho, Francesca Aguirre, Dennis Hazelett, Rocio Alvarez, Lisa Zhou, Megan Hitchins, Jun Gong

Publikováno v: Genes, vol 14, iss 5

Colon cancer with high microsatellite instability is characterized by a high tumor mutational burden and responds well to immunotherapy. Mutations in polymerase ɛ, a DNA polymerase involved in DNA replication and repair, are also associated with an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3f86a1bf736bcd114ddc40c5668874
https://doi.org/10.3390/genes14051054

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

Autor: Weiva Sieh, Gerhard Coetzee, Paul James, Lambertus Kiemeney, Susanne Kjaer, Iain McNeish, Diana M Eccles, Jolanta Kupryjanczyk, Arif Ekici, Dennis Hazelett, Claus Høgdall, Iwona Krystyna Rzepecka, Allan Jensen, Melissa Southey, Camilla Krakstad, Graham Giles, Usha Menon, Thilo Dörk, Alvaro Monteiro, Kate Lawrenson, Ronny Drapkin, Diether Lambrechts, Douglas Levine, Rosalind Glasspool, Anna Jakubowska, Yin Ling Woo, Florian Heitz, Robert Vierkant, Suhn Rhie, Liisa Pelttari, Georgia Chenevix-Trench, Agnieszka Dansonka-Mieszkowska, Simon Gert Coetzee, Soo Teo, Jolanta Lissowska, Susan Ramus, Keitaro Matsuo, Keren Levanon, Jan Lubinski, Alexander Hein

Publikováno v: Human Molecular Genetics, 24, 13, pp. 3595-607
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Human Molecular Genetics, 24, 3595-607

Contains fulltext : 154725.pdf (Publisher’s version ) (Closed access) Understanding the regulatory landscape of the human genome is a central question in complex trait genetics. Most single-nucleotide polymorphisms (SNPs) associated with cancer ris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee887b3c4645a469def8ed3424464a1c
https://europepmc.org/articles/PMC4459387/