Results 141 to 150 of about 1,357,403 (269)

Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience. [PDF]

Langenbecks Arch Surg
Burkart S, Sailer S, Körfer D, Marbach F, Spanjaard M, Hirsch S, Brennenstuhl H, Valentin I, Hinderhofer K, Dennig J, Kaufmann L, Schaaf CP, Böckler D, Dikow N, Hempel M, Erhart P.   +15 more
europepmc   +1 more source

ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma‐cfDNA of advanced breast cancer patients: A feasibility proof‐of‐concept study

Molecular Oncology, EarlyView.
Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou, Athina Markou, Eleonora Nicolo, Mara S Serafini, Qiang Zhang, Youbin Zhang, Lorenzo Gerratana, Andrew A. Davis, Huiping Liu, William J Gradishar, Carolina Reduzzi, Massimo Cristofanilli, Evi Lianidou   +12 more
wiley   +1 more source

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing. [PDF]

J Genet Couns
Hansen A, Luca S, Moran O, Babul-Hirji R, Coe TB, Wilk K, Assamad D, Fooks K, Venkataramanan V, Shickh S, Yan J, Wu V, Badalato L, Balci TB, Ladouceur VB, Chad L, Chisholm C, Gillespie MK, Huang L, Jarinova O, Lau L, Lee W, Mackley MP, Marshall CR, Mendoza-Londono R, Morel CF, Richer J, Sawyer S, Stavropoulos DJ, Szuto A, Tarnopolsky M, Villani A, Zahavich L, Somerville MJ, Boycott KM, Ungar WJ, Hayeems RZ.   +36 more
europepmc   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Correction: ATRA-induced cellular differentiation and CD38 expression inhibits acquisition of BCR-ABL mutations for CML acquired resistance. [PDF]

PLoS Genetics, 2015
PLOS Genetics Staff
doaj   +1 more source

Proteasome inhibitor, ixazomib prevents topoisomerase‐I degradation and reverses irinotecan resistance in colorectal cancer

Molecular Oncology, EarlyView.
Ixazomib inhibits proteasome‐mediated degradation of topoisomerase I induced by irinotecan, thereby restoring drug sensitivity and promoting tumor cell death in colorectal cancer. Irinotecan, a topoisomerase I (topoI) inhibitor, is widely used for colorectal cancer, but resistance remains a major clinical challenge.
Yuho Ebata, Koji Ando, Hirofumi Hasuda, Koshi Mimori, Elizabeth C. Unan, Siddhartha Pulukuri, Aahana Tiku, Allison Berger, Eiji Oki, Ajit Bharti, Tomoharu Yoshizumi   +10 more
wiley   +1 more source

Correction: fitness landscape transformation through a single amino acid change in the rho terminator.

PLoS Genetics, 2015
PLOS Genetics Staff
doaj   +1 more source

Correction: Altered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution. [PDF]

PLoS Genetics, 2015
PLOS Genetics Staff
doaj   +1 more source

Advanced Research in Forensic Genetics. [PDF]

Genes (Basel)
Pesaresi M, Bernini Di Michele A.
europepmc   +1 more source

Metastasis on pause: How dormant tumor cells stay hidden within the tumor microenvironment and evade immune surveillance

Molecular Oncology, EarlyView.
Dormant cancer cells can hide in distant organs for years, evading treatment and the immune system. This review highlights how signals from the surrounding tissue and immune environment keep these cells inactive or trigger their reawakening. Understanding these mechanisms may help develop therapies to eliminate or control dormant cells and prevent ...
Kanishka Tiwary, Jose Javier Bravo‐Cordero   +1 more
wiley   +1 more source