Results 91 to 100 of about 7,998,845 (308)

Rare disease, rare information

open access: yesProceedings of the ALISE Annual Conference, 2022
This study aimed to uncover the types of daily healthcare information provided by hospitals to family caregivers of individuals with rare diseases and determine whether the information provided met the family caregivers’ information needs to improve digital information access and use by family caregivers.
openaire   +2 more sources

National Clinical Programme for Rare Diseases Workshop on Clinical Research in Rare Diseases

open access: yes, 2018
The National Clinical Programme was established in December 2013. It is an initiative of the HSE, in partnership with the Royal College of Physicians. A key objective of the Clinical Programme for Rare Diseases is to improve access for rare diseases ...
National Clinical Programme for Rare Diseases
core  

Figure 1: Rare disease clustering workflow.

open access: yes, 2023
Figure 1: Rare disease clustering workflow. Input data resources are integrated into a single rare disease-focused network. Random walks are performed to create a corpus of surveying the local context around each disease.
Ewy A. Mathe (15109246)   +2 more
core   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

open access: yesFEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise   +5 more
wiley   +1 more source

Rare Disease Week - Cooper Library Display [PDF]

open access: yes, 2020
The Rare Disease Week book display in Cooper Library aims to highlight the history, stories, and impact of rare diseases. This display seeks to demonstrate the many types of rare diseases in the world, the foundational research texts behind disease ...
Stanley, Laura, McElfresh, Jenessa
core   +1 more source

A Rare Complication of a Rare Disease [PDF]

open access: yesGastroenterology, 2019
Luke J. Nayak   +2 more
openaire   +2 more sources

Metastatic niche shaped by host factors influences disseminated cancer cell fate

open access: yesFEBS Letters, EarlyView.
Metastasis is shaped not only by cancer cells but also by the environments they encounter. This review explores how factors such as aging, diet, the microbiome, lifestyle, and environmental exposures remodel organ‐specific niches in the lung, liver, bone, and brain, influencing where metastatic cells survive, remain dormant, or grow, and ultimately ...
Gwennan Delyth Ward   +2 more
wiley   +1 more source

Smaller is better: nanobodies meet NMR

open access: yesFEBS Letters, EarlyView.
Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley   +1 more source

Esophageal Melanocytosis as a Rare Disease of Esophagus

open access: yes
Esophageal melanocytosis is an extremely rare condition characterized by melanocyte proliferation in the esophageal squamous epithelium. The etiology and pathogenesis of the disease are unclear.
Tuğçe Eşkazan   +6 more
core   +1 more source

A rare cranial disease: Prolactinoma-associated moyamoya syndrome [PDF]

open access: yes
Moyamoya disease is a rare chronic progressive cerebrovascular disease. The etiology of moyamoya disease has not been established yet. If an underlying cause is detected, moyamoya disease is called moyamoya syndrome.
Meryem Can   +3 more
core   +1 more source

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