Results 51 to 60 of about 227,823 (308)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

When moments matter: Finding answers with rapid exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients.
Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda M. Randolph, Meghan Towne, Jesse Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang   +13 more
doaj   +1 more source

Potential Candidate Gene and Underlying Molecular Mechanism Involving in Tumorigenesis of Endometriosis-Associated Ovarian Cancer (EAOC) in Asian Populations

Medical Sciences Forum, 2023
Molecular aberrations in endometriosis were known to be associated with an increased risk of epithelial ovarian cancer (EOCs), especially endometrioid ovarian cancer (EnOC) and ovarian clear cell carcinoma (OCCC).
Rut Christine Inggriani, Che-Chang Chang, Wei-Chung Yang   +2 more
doaj   +1 more source

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization [PDF]

, 2017
Background: Whole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis. Results:
ANGLANI, FRANCA, BERTOLDI, LORIS, BIROLO, GIOVANNI, D'AVANZO, FRANCESCA, DE PASCALE, FABIO, Faulkner, Georgine, FELTRIN, ERIKA, FORCATO, CLAUDIO, NEGRISOLO, SUSANNA, SCHIAVON, RICCARDO, TOMANIN, ROSELLA, VALLE, GIORGIO, VEZZI, ALESSANDRO, VITULO, NICOLA, ZANETTI, ALESSANDRA   +14 more
core   +3 more sources

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Clinical significance of the whole-exome studies in myeloid neoplasms using next-generation sequencing

Клиническая онкогематология, 2013
The application of next generation sequencing (NGS) to study myeloid neoplasms pathogenesis is considered in this review. Analysis of tumor cell’s exome in patients with different forms of hematopoietic myeloid tumors revealed new recurrent mutations ...
S. A. Smirnikhina, A. V. Lavrov, E. P. Adilgereeva, A. G. Turkina, S. I. Kutsev   +4 more
doaj   +1 more source

Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres [PDF]

, 2019
Background: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings.
De Baere, Elfride, Devisch, Ignaas, Mertes, Heidi, Moerenhout, Tania, Saelaert, Marlies   +4 more
core   +2 more sources

Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer

Molecular Oncology, EarlyView.
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann, Eduardo García‐Galea, Alice O'Farrell, Zak Kinsella, Maxime Meylan, Florent Petitprez, Ingrid Arijs, Tom Venken, Hari Ps, Adrian Lärkeryd, Ian Miller, Janick Selves, Nadja Meindl‐Beinker, Fiorella Ruiz‐Pace, Elena Élez, Raquel Comas‐Navarro, Frank Lincoln, Dirk Fey, Gift Nyamundanda, Aoife Nolan, Joern Lewin, Raquel Perez‐Lopez, Jonathan Briody, Kathleen Bennett, Walter Kolch, David Matallanas, Alexander Kel, Enrique Arenas, Joaquín Arribas, Bart Ghesquière, Josep Tabernero, Julie Meilleroux, Deborah McNamara, Ray McDermott, Marvin Lim, Mary O'Reilly, Brian Bird, Lisa Stack, Lucia Moloney, Patrick Morris, Keith Egan, Maciej Milewski, Lars Scheuer, Joachim Behringer, Georg Bolz, Ramon Salazar, Cristina Santos, Andrea Ruiz, Orla Casey, Verena Murphy, Matthias Ebert, Livio Trusolino, Diether Lambrechts, Anguraj Sadanandam, Catherine Sautès‐Fridman, Jochen Prehn, Paolo Nuciforo, Jacques Fieschi, Florence Monville, Darran O'Connor, Wolf Fridman, Annette Byrne   +61 more
wiley   +1 more source

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Frontiers in Genetics, 2022
Laterality defects are defined by the perturbed left–right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left–right patterning,
Dinu Antony, Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Han G. Brunner, Peter Walentek, Peter Walentek, Sebastian J. Arnold, Sebastian J. Arnold, Rolf Backofen, Rolf Backofen, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts   +20 more
doaj   +1 more source

Somatic mutations render human exome and pathogen DNA more similar

, 2019
Immunotherapy has recently shown important clinical successes in a substantial number of oncology indications. Additionally, the tumor somatic mutation load has been shown to associate with response to these therapeutic agents, and specific mutational ...
Cristescu, Razvan, Ebrahimzadeh, Ehsan, Engler, Maggie, Tchamkerten, Aslan, Tse, David   +4 more
core   +1 more source