Results 161 to 170 of about 390,058 (293)

Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts

Scientific Reports
Marfan syndrome is an autosomal dominantly (AD)-inherited disease that results from pathogenic variants in the Fibrillin 1 (FBN1) gene, and is characterised by tall stature, elongated limbs and digits, lens abnormalities and aortic root dilatation ...
K. Choi, M. Huang, J. Savige
doaj   +1 more source

Targeted modulation of IGFL2‐AS1 reveals its translational potential in cervical adenocarcinoma

Molecular Oncology, EarlyView.
Cervical adenocarcinoma patients face worse outcomes than squamous cell carcinoma counterparts despite similar treatment. The identification of IGFL2‐AS1's differential expression provides a molecular basis for distinguishing these histotypes, paving the way for personalized therapies and improved survival in vulnerable populations globally.
Ricardo Cesar Cintra, Lucca Paolo Hsu Helmich, Daniel Rodrigues de Bastos, Laura Sichero, Patrícia Savio de Araujo‐Souza, Fabio Passetti, Luisa Lina Villa   +6 more
wiley   +1 more source

RIPK4 function interferes with melanoma cell adhesion and metastasis

Molecular Oncology, EarlyView.
RIPK4 promotes melanoma growth and spread. RIPK4 levels increase as skin lesions progress to melanoma. CRISPR/Cas9‐mediated deletion of RIPK4 causes melanoma cells to form less compact spheroids, reduces their migratory and invasive abilities and limits tumour growth and dissemination in mouse models.
Norbert Wronski, Sławomir Lasota, Ewelina Madej, Anna A. Brożyna, Małgorzata Szczygieł, Agnieszka Harazin‐Lechowska, Jan Czerbniak, Janusz Rys, Jaroslaw Czyz, Agnieszka Wolnicka‐Glubisz   +9 more
wiley   +1 more source

Cancer Risks for Msh6 Pathogenic Variant Carriers

European Journal of Cancer
Introduction:Lynch syndrome (LS) is a hereditary cancer syndrome caused by pathogenic variants (PVs) in DNA mismatch repair genes, including MSH6 . Although MSH6 -associated LS (MSH6 -LS) is known to increase the risk of several cancers, precise risk estimates—particularly for non-colorectal cancers—remain uncertain.
Anne-Sophie van der Werf – ’t Lam, James G. Dowty, Morrison Italia, Astrid C. Bakker, Fernande Koops, Fonnet Bleeker, Encarna Gomez – Garcia, Liselot P. van Hest, Hans J.P. Gille, Claire C. Cornips, Mirjam M. de Jong, Tom G.W. Letteboer, Floor A.M. Duijkers, Anja Wagner, Ellis L. Eikenboom, Christi J. van Asperen, Sanne W. Bajwa – ten Broeke, Aung K. Win, Mark A. Jenkins, Maartje Nielsen   +19 more
openaire   +2 more sources

Overview of molecular signatures of senescence and associated resources: pros and cons

FEBS Open Bio, EarlyView.
Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas, Sylvia Vagena, Pavlos Pantelis, Giorgos Theocharous, Russel Petty, Konstantinos Evangelou, Vassilis G. Gorgoulis   +6 more
wiley   +1 more source

Day/night variations of myeloid and lymphoid cell subsets in the murine inguinal lymph node

FEBS Open Bio, EarlyView.
The circadian system is involved in the temporal regulation of the immune system. Our study reveals that two innate immune populations, NKT cells and neutrophils, predominate at the beginning of the day in healthy mice, highlighting how the time of day influences immune responses.
Paula M. Wagner, César G. Prucca, Lucia Boffelli, Virginia A. Piqueras, Silvia G. Correa, Mariana Maccioni, Mario E. Guido   +6 more
wiley   +1 more source

SmallTalk: a novel small‐sized fusion tag for peptide expression and purification

FEBS Open Bio, EarlyView.
The SmallTalk fusion tag allows for the efficient expression and purification of soluble recombinant proteins or peptides in Escherichia coli. Testing with SmallTalk‐GFP confirmed that the proteins were soluble and folded correctly, while SmallTalk‐Bin1b maintained its antimicrobial activity against various bacterial isolates. This streamlined workflow
Atika Tariq, Nestor G. Casillas‐Vega, Alma Gomez‐Loredo, Xristo Zarate   +3 more
wiley   +1 more source

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]

, 2017
Andrews, Marisa V, et al,, Grange, Dorothy K   +2 more
core   +2 more sources

Autophagosome marker, LC3, is released extracellularly via several distinct pathways

FEBS Open Bio, EarlyView.
This study establishes a novel HiBiT‐tagging system for ultrasensitive detection of LC3, revealing multiple pathways for its extracellular secretion. It demonstrates that LC3 is released via both autophagy‐dependent and ‐independent mechanisms, including a novel route for nonlipidated LC3‐I.
Koki Saito, Masashi Arakawa, Koki Maeda, Eiji Morita   +3 more
wiley   +1 more source

Ascertaining pathogenicity of genetic variants: caution required

Pediatric Nephrology, 2023
Zainab Arslan, Elizabeth Watson, Detlef Bockenhauer   +2 more
openaire   +3 more sources