Results 91 to 100 of about 11,812,623 (407)

The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington’s disease [PDF]

, 2020
Objective Compromised brain cholesterol turnover and altered regulation of brain cholesterol metabolism have been allied with some neurodegenerative diseases, including Huntington’s disease (HD).
Alves, Sandro, Betuing, Sandrine, Caboche, Jocelyne, Carmo-Silva, Sara, Cartier, Nathalie, Conceição, André, Costa, Rafael G, Koppenol, Rebekah, Marcelo, Adriana, Matos, Carlos A, Nunes, Ricardo, Nóbrega, Clévio, Sequeira, Raquel L.   +12 more
core   +1 more source

To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

罕见病研究
With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases.
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee   +2 more
doaj   +1 more source

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BMC Pediatrics, 2020
Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive ...
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia   +11 more
doaj   +1 more source

Education and information needs for physicians about rare diseases in Spain

Orphanet Journal of Rare Diseases, 2020
Background Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family.
E. Ramalle-Gómara, E. Domínguez-Garrido, M. Gómez-Eguílaz, M. Marzo-Sola, J. L. Ramón-Trapero, Josefa Gil-de-Gómez   +5 more
semanticscholar   +1 more source

IntroducingRare Diseases [PDF]

Rare Diseases, 2013
We are pleased to introduce Rare Diseases, an open access journal dedicated to publishing high-quality research that addresses the many aspects related to rare diseases. Rare Diseases will cover a range of topics including the studies of disease-related proteins, the analyses of rare disease mutations, gene expression studies, genotype-phenotype ...
Patricia Szajner, Timur Yusufzai
openaire   +3 more sources

Identification of functional and diverse circulating cancer‐associated fibroblasts in metastatic castration‐naïve prostate cancer patients

Molecular Oncology, EarlyView.
Cancer‐associated fibroblasts (CAFs) promote cancer growth, invasion (metastasis), and drug resistance. Here, we identified functional and diverse circulating CAFs (cCAFs) in patients with metastatic prostate cancer (mPCa). cCAFs were found in higher numbers and were functional and diverse in mPCa patients versus healthy individuals, suggesting their ...
Richell Booijink, Leon W. M. M. Terstappen, Eshwari Dathathri, Khrystany Isebia, Jaco Kraan, John Martens, Ruchi Bansal   +6 more
wiley   +1 more source

Disorders of metal metabolism [PDF]

, 2017
Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum.
Ferreira, Carlos, Gahl, William A.
core   +3 more sources

Estimating mortality in rare diseases using a population-based registry, 2002 through 2019

Orphanet Journal of Rare Diseases, 2023
Background Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim of this study is to provide data on
Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello, Paola Facchin   +5 more
doaj   +1 more source

Diagnosis support systems for rare diseases: a scoping review

Orphanet Journal of Rare Diseases, 2020
Introduction Rare diseases affect approximately 350 million people worldwide. Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers.
C. Faviez, Xiaoyi Chen, N. Garcelon, A. Neuraz, B. Knebelmann, R. Salomon, S. Lyonnet, S. Saunier, A. Burgun   +8 more
semanticscholar   +1 more source

Circulating tumor cells in metastatic breast cancer patients treated with immune checkpoint inhibitors – a biomarker analysis of the ALICE and ICON trials

Molecular Oncology, EarlyView.
In this explorative biomarker analysis, we assessed serial sampling of circulating tumor cells (CTCs) with CellSearch in two randomized trials testing immune checkpoint inhibitors (ICIs) in metastatic breast cancer. Our data demonstrate a prognostic potential of CTCs, most apparent 4 weeks into ICI therapy.
Nikolai Kragøe Andresen, Andreas Hagen Røssevold, Elin Borgen, Cecilie Bendigtsen Schirmer, Bjørnar Gilje, Øystein Garred, Jon Lømo, Marius Stensland, Oddmund Nordgård, Ragnhild Sørum Falk, Randi R. Mathiesen, Hege G. Russnes, Jon Amund Kyte, Bjørn Naume   +13 more
wiley   +1 more source