Results 131 to 140 of about 390,058 (293)

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History

Kidney International Reports
Introduction: Recently, the monoallelic loss-of-function IFT140 variant was identified as a causative gene for autosomal dominant polycystic kidney disease (ADPKD).
Takuya Fujimaru, Takayasu Mori, Akinari Sekine, Motoko Chiga, Shintaro Mandai, Hiroaki Kikuchi, Yutaro Mori, Yu Hara, Tamami Fujiki, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Ryoichi Hanazawa, Akihiro Hirakawa, Toshio Mochizuki, Tatsuya Suwabe, Yoshifumi Ubara, Shinichi Uchida, Eisei Sohara   +19 more
doaj   +1 more source

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients

Cancer Medicine, 2019
Background Lynch syndrome (LS) is the commonest inherited cancer syndrome caused by pathogenic variants of germline DNA mismatch repair (g.MMR) genes. Genome‐wide sequencing is now increasingly applied for tumor characterization, but not for g.MMR.
Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Yasue Horiuchi, Satomi Higashigawa, Takuma Oishi, Masato Abe, Sumiko Ohnami, Kenichi Urakami, Takeshi Nagashima, Masatoshi Kusuhara, Hidehiko Miyake, Ken Yamaguchi   +11 more
doaj   +1 more source

A targeted gene panel that covers coding, non-coding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases [PDF]

, 2019
Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a ...
Au, Wing Chi, Chan, Anne Yin-Yan, Chan, Ho Yin Edwin, Chan, Larry W L, Chan, Ting-Fung, Cheng, Timothy H T, Li, Jing-Woei, Lin, Xiao, Mok, Vincent C T, Yim, Aldrin Kay-Yuen, Yu, Allen Chi-Shing, Yuen, Liz Y P   +11 more
core   +1 more source

Glycosylated LGALS3BP is highly secreted by bladder cancer cells and represents a novel urinary disease biomarker

Molecular Oncology, EarlyView.
Urinary LGALS3BP is elevated in bladder cancer patients compared to healthy controls as detected by the 1959 antibody–based ELISA. The antibody shows enhanced reactivity to the high‐mannose glycosylated variant secreted by cancer cells treated with kifunensine (KIF).
Asia Pece, Giulio Lovato, Ilaria Cela, Arianna Mercatelli, Benedetta Ferro, Jussi Nikkola, Sara Pagotto, Tommaso Grottola, Vincenzo De Laurenzi, Rossella Cicchetti, Antonio Marchetti, Luigi Schips, Rossano Lattanzio, Stefano Iacobelli, Emily Capone, Peter Black, Mads Daugaard, Michele Marchioni, Gianluca Sala   +18 more
wiley   +1 more source

Molecular diagnosis of haemophilia A: four novel variants identified in five patients [PDF]

, 2020
Aims/Context: Haemophilia A (HMA) is an X-linked bleeding disorder caused by reduced levels of the coagulation factor VIII (FVIII) due to alterations in the F8 gene. Decreased levels of FVIII activity leads to a loss of clotting activity and to bleeding (
Antunes, Ema, Certã, Rita, Cruz, Eugénia, Diniz, Maria João, Gonçalves, João, Kjollerstrom, Paula, Morais, Sara, Moreira, Isabel   +7 more
core  

Liquid biopsy epigenetics: establishing a molecular profile based on cell‐free DNA

Molecular Oncology, EarlyView.
Cell‐free DNA (cfDNA) fragments in plasma from cancer patients carry epigenetic signatures reflecting their cells of origin. These epigenetic features include DNA methylation, nucleosome modifications, and variations in fragmentation. This review describes the biological properties of each feature and explores optimal strategies for harnessing cfDNA ...
Christoffer Trier Maansson, Anders Lade Nielsen, Boe Sandahl Sorensen   +2 more
wiley   +1 more source

Class IIa HDACs forced degradation allows resensitization of oxaliplatin‐resistant FBXW7‐mutated colorectal cancer

Molecular Oncology, EarlyView.
HDAC4 is degraded by the E3 ligase FBXW7. In colorectal cancer, FBXW7 mutations prevent HDAC4 degradation, leading to oxaliplatin resistance. Forced degradation of HDAC4 using a PROTAC compound restores drug sensitivity by resetting the super‐enhancer landscape, reprogramming the epigenetic state of FBXW7‐mutated cells to resemble oxaliplatin ...
Vanessa Tolotto, Nicolò Gualandi, Ylenia Cortolezzis, Raffaella Picco, Monica Colitti, Francesca D'Este, Mariachiara Gani, Wayne W. Hancock, Giovanni Terrosu, Cristina Degrassi, Francesca Agostini, Claudio Brancolini, Luigi E. Xodo, Eros Di Giorgio   +13 more
wiley   +1 more source

Germline variants of the MMR/EPCAM genes in Russian patients with Lynch syndrome

Russian Open Medical Journal
Objective — Lynch syndrome is the most common hereditary cancer syndrome caused by pathogenic variants in the MMR/EPCAM genes. Our goal was to study the germline variants of these genes in the largest sample of patients with Lynch syndrome in Russia ...
Aleksey S. Tsukanov, Aleksey A. Barinov, Vitaly P. Shubin, Anna N. Loginova, Dmitry Yu. Pikunov, Dmitry G. Shakhmatov, Yuri A. Shelygin, Sergey I. Achkasov   +7 more
doaj   +1 more source

In vitro models of cancer‐associated fibroblast heterogeneity uncover subtype‐specific effects of CRISPR perturbations

Molecular Oncology, EarlyView.
Development of therapies targeting cancer‐associated fibroblasts (CAFs) necessitates preclinical model systems that faithfully represent CAF–tumor biology. We established an in vitro coculture system of patient‐derived pancreatic CAFs and tumor cell lines and demonstrated its recapitulation of primary CAF–tumor biology with single‐cell transcriptomics ...
Elysia Saputra, Shamsudheen Karuthedath Vellarikkal, Lixia Li, Hong Sun, Khoa Nguyen, Amber Montano, Suchitra Natarajan, Federica Piccioni, Alex Michael Tamburino, Xin Yu, Aleksandra Katarzyna Olow   +10 more
wiley   +1 more source