Results 41 to 50 of about 1,638,747 (268)

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

Three-year safety, efficacy, and renal outcomes of mitapivat treatment in sickle cell disease: results from the phase 2 open-label study

Haematologica
Not available.
Geoffrey Z.L. Kuppens, Maria Armila D. Ruiz, Myrthe J. van Dijk, Minke A.E. Rab, Cleo Derichs, Joline Saes, Anita W. Rijneveld, Marjon H. Cnossen, Erfan Nur, Bart J. Biemond, Marije Bartels, Santosh L. Saraf, Eduard J. van Beers   +12 more
doaj   +1 more source

Benign lymphadenopathies [PDF]

Modern Pathology, 2013
Benign lymphadenopathy is a common biopsy finding, and may often be confused with malignant lymphoma. It may be separated into major morphologic patterns, each with its own differential diagnosis with certain types of lymphoma. Most cases of reactive follicular hyperplasia is easy to diagnosis, but some cases may be confused with follicular lymphoma ...
Lawrence M, Weiss, Dennis, O'Malley
openaire   +2 more sources

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

Weakening the nuclear envelope: Lamin B receptor in melanoma metastasis

Molecular Oncology, EarlyView.
LBR‐driven nuclear fragility supports melanoma invasion. A: Melanocyte presents low LBR (Lamin B Receptor) levels, maintaining nuclear integrity and lamina‐chromatin tethering. B: During malignant progression, upregulation of LBR clusters at the INM (Inner Nuclear Membrane) during confined migration causes local lamina weakening and cholesterol ...
Francesca Lorenzini, Maria Caterina Mione   +1 more
wiley   +1 more source

Gynaecological Perspective of Schwannoma: A Rare Pelvic Tumour [PDF]

Journal of Clinical and Diagnostic Research, 2016
Schwannomas are benign tumours that arise from Schwann cells of nerve fibres. They commonly occur in the head, neck, mediastinum and extremities but pelvic occurrence is rare. We report a rare case of retroperitoneal tumour with Gynaec presentation.
Neranjana Padmanaban, Priya Subash Chandrabose, Muthuvel Esakki, Hephzibah Kirubamani, Chitra Srinivasan   +4 more
doaj   +1 more source

Directed evolution of enzymes at the crossroads of tradition and innovation

FEBS Open Bio, EarlyView.
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova, Andrej Mirossay, Erik Sedlak   +2 more
wiley   +1 more source

Effects of IGFBP4 deficiency on human preadipocyte proliferation and differentiation through the IGF1R/AKT pathway

FEBS Open Bio, EarlyView.
IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo, Sandy Richter, Christoph Bach, Wieland Kiess, Anna Kirstein, Diana Le Duc, Antje Garten   +6 more
wiley   +1 more source

Clinical Significance of Fine Needle Aspiration in Managing Patients with Breast Lesions

Folia Medica, 2018
Background: Fine needle aspiration cytology (FNAC) has been and still is challenged about its role in the management of breast lesions. Guidelines today mandate that breast lesions should be managed with a triple assessment system consisting of clinical,
Dinas Konstantinos, Pratilas Georgios C., Nasioutziki Maria, Vavoulidis Eleftherios, Makris Vasileios, Loufopoulos Panagiotis D., Kalder Matthias   +6 more
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source