Results 251 to 260 of about 464,487 (319)

The genetics of protein S deficiency: unresolved questions and new leads. [PDF]

Res Pract Thromb Haemost
García de Frutos P.
europepmc   +1 more source

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

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia. [PDF]

Mol Genet Genomic Med
Wang Z, Jing H, Chen Y, Zhong L, Yang J.
europepmc   +1 more source

Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients. [PDF]

Cancer Med
Lu L, Peng X, Zhang J, Ding Y, Lu J, Lin H, Wu H, Wang X, Ba Y.   +8 more
europepmc   +1 more source

Late-Onset Angiotensin-Converting Enzyme Inhibitor-Induced Angioedema in a General Practitioner's Practice: A Case Report. [PDF]

Reports (MDPI)
Tirāne EJ, Tirāns E.
europepmc   +1 more source

Severe Transfusion-Dependent Anemia in Hereditary Hemorrhagic Telangiectasia: A Critical Case of Gastrointestinal Bleeding and Pulmonary Arteriovenous Malformation. [PDF]

Cureus
Shetty M, Awale MS, Gangula S, Patri JR.
europepmc   +1 more source