Results 161 to 170 of about 1,415,866 (266)

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

Frontiers in Genetics
Lidia Larizza, Christopher M. Watson, Christopher M. Watson, Madelyn A. Gillentine, Palma Finelli, Palma Finelli   +5 more
doaj   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]

J Inherit Metab Dis
Veitia RA, Zschocke J, Birchler JA.
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

Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases. [PDF]

Clin Transl Sci
Allen JD, Duong BQ, Brady J, Arn P.
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

Therapeutic Application of mRNA for Genetic Diseases. [PDF]

Wiley Interdiscip Rev Nanomed Nanobiotechnol
Schürmann PJL, van Breda Vriesman SPE, Castro-Alpízar JA, Kooijmans SAA, Nieuwenhuis EES, Schiffelers RM, Fuchs SA.   +6 more
europepmc   +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

Diagnosis and treatment of complement-mediated thrombotic microangiopathies: consensus of the Genetic Diseases Committee of the Chilean Society of Nephrology. [PDF]

BMC Nephrol
Musalem P, Bascur N, Sepúlveda RA, Krall P, Lazcano A, Navarro G, Rojo A, Grandy J.   +7 more
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

Genetic diseases underlying a spectrum of fetal effusions. [PDF]

Am J Obstet Gynecol
Gulrajani NB, Lianoglou BR, Tick K, Sahin-Hodoglugil NN, Hodoglugil U, Devine P, Van Ziffle J, Norton ME, Sparks TN.   +8 more
europepmc   +1 more source