Results 81 to 90 of about 3,349,140 (303)

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases [PDF]

open access: yes, 2018
Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8–9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of
Corpas, M.   +8 more
core   +1 more source

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

open access: yesMolecular 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   +1 more
wiley   +1 more source

RDA & Rare Materials Seminar, Edinburgh, 6th November

open access: yes, 2015
CIG Scotland is delighted to host an international seminar on RDA & Rare Materials, in conjunction with members of the Association of College & Research Libraries’ Rare Books and Manuscripts Section (RBMS), the European RDA Interest Group (EURIG), the ...
IFLA Rare Books & Special Collections Section
core   +1 more source

Epigenetic heterogeneity and plasticity in therapy‐induced tumor states through single‐cell multi‐omics

open access: yesMolecular Oncology, EarlyView.
Single‐cell multi‐omics reveals epigenetic heterogeneity across therapy‐adaptive tumor states, including quiescent/dormant, drug‐tolerant persister, and EMT‐like phenotypes. By linking regulatory features with state‐associated biomarkers, these approaches inform biomarker‐guided therapeutic strategies for evolving tumors.
Hee Jung Kim   +3 more
wiley   +1 more source

Register for Upcoming Webinar: Rare Books and Special Collections Adapting to a Global Pandemic

open access: yes, 2021
Please join the IFLA's Rare Books and Special Collections Section for a virtual discussion of the ways special collections libraries have adapted to the new pandemic operating environment.  All are welcome!  Details and registration information are below.
IFLA Rare Books & Special Collections Section
core  

Spatial and single‐nuclei transcriptomics reveals idiosyncratic and generic patterns in papillary and anaplastic thyroid cancers

open access: yesMolecular Oncology, EarlyView.
Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur   +11 more
wiley   +1 more source

Spatial biology in cancer epigenetics

open access: yesMolecular Oncology, EarlyView.
Spatial epigenomics combines molecular profiling with tissue architecture to reveal how gene regulation is organized within intact tissues. In cancer, these technologies uncover the mechanisms driving tumor heterogeneity and microenvironmental interactions, opening new opportunities for biomarker discovery and precision medicine.
Eva Crespo‐García, Manel Esteller
wiley   +1 more source

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

open access: yesFrontiers in Endocrinology
IntroductionThe present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to ...
Marina Mordenti   +11 more
doaj   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

open access: yesFEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura   +19 more
wiley   +1 more source

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway

open access: yesBMJ Open
Objectives This study aimed to determine healthcare needs and care use (provision of healthcare) in adults with Bardet–Biedl syndrome (BBS) and the associations between care use and physical functioning, health status outcomes and distress.Design Cross ...
Jeanette Ullmann Miller   +9 more
doaj   +1 more source

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