Results 121 to 130 of about 4,732,768 (313)

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

, 2014
Over the last decade the European Union (EU) has been coordinating actions addressing various aspects of rare diseases and has funded several cross-border research projects.
Jan Manson, Graziella Filippini, Josè Ra met, Manuel Posada, Kate Bushby, Desirée Gavhed, Holger Schünemann, Joerg J Meerpohl, Veronica Alonso Ferreira, Cristina Morciano, Saverio Sabina, Karen Ritchie, Jeanette PérezRamos, Joanne Auld, Barbara Prediger, Juliette Senecat, Roberto Guarino, Panos G Kanavos, Michele HiltonBoon, Pedro SerranoAguilar, Georgi Iskrov, Henk van Kranen, Aris Angelis, Maria M TrujilloMartín, Domenica Taruscio, Silvia Minozzi, Lisa Schell, Jonathan Lal, Mon ica Ensini, Amado RiveroSantana, Cinzia Del Giovane, David Tordrup, Antonio Atalaia, Lilisbeth PeresteloPerez, Tsonka MitevaKatrandzhieva, Fabio Palazzo, Thomas Sejersen, Ignacio AbaituaBorda, Paola Laricchiuta, Yann Le Cam, Pierpaolo Mincarone, Manuel HensPérez, Carlo G Leo, Elena Nicod, Liesbeth Siderius, Rumen Stefanov, Angela Brand   +46 more
core  

Catastrophic health expenditure and equity in families of patients with phenylketonuria in China: a cross-sectional survey in 2025

Zhongguo gonggong weisheng
ObjectiveTo investigate the incidence, intensity, and influencing factors of catastrophic health expenditure (CHE) among families of patients with phenylketonuria (PKU) in China and to assess the contributions of various factors to the inequity in CHE ...
Hao DING, Jian GUO, Jiayin ZHENG, Linkang LI, Kun ZHAO   +4 more
doaj   +1 more source

The impact of leukocyte‐associated RNA retention on platelet RNA‐based cancer detection

Molecular Oncology, EarlyView.
Platelets carry RNA signals that may help detect cancer, but platelet samples can also retain RNA from white blood cells. We found that this retained white blood cell signal did not significantly affect machine learning cancer classification, suggesting that the cancer‐related RNA signal in platelets is largely independent of leukocyte‐associated RNA ...
Michał Sieczczyński, Krzysztof Pastuszak, Anna Samelak‐Czajka, Zuzanna Cemka, Paulina Jackowiak, Tomasz Stefaniak, Sylwia Łapińska‐Szumczyk, Jacek Jassem, Anna J. Żaczek, Matthew T. Rondina, Myron G. Best, Sjors G. J. G. In 't Veld, Anna Supernat   +12 more
wiley   +1 more source

Comparison of statistical tests for association between rare variants and binary traits. [PDF]

, 2012
Genome-wide association studies have found thousands of common genetic variants associated with a wide variety of diseases and other complex traits. However, a large portion of the predicted genetic contribution to many traits remains unknown.
Nelson Matthew R., Nelson, Matthew R., John C Whittaker, John C. Whittaker (51412), Whittaker, John C., Silviu-Alin Bacanu (143389), Nelson, Matthew R, Whittaker, John C, Bacanu Silviu-Alin, Whittaker John C., Silviu-Alin Bacanu, Matthew R Nelson, Bacanu, Silviu-Alin, Matthew R. Nelson (143393)   +13 more
core   +2 more sources

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

FEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard, Emma‐Jayne Proctor, Jiawa Wang, Nikolas P. Johnston, Andrew Hayes, Georgia McCorkell, Haibo Yu, Jai Tree, Mark R. Davies, Mark J. Walker, Ronald Sluyter, Stephan Brouwer, Martina L. Sanderson‐Smith   +12 more
wiley   +1 more source

Adult sickle cell disease and SARS-CoV-2: an increasingly common comorbidity for a rare disease

Italian Journal of Medicine
Sickle cell disease (SCD) is a collection of genetic lesions that manifest in the diminished effectiveness of hemoglobin. We collected and reviewed the recent and extant literature on SARS-CoV-2 (COVID-19) and SCD.
Michaela Boggan, Christopher L. Edwards, Jordan Meek, Mary Wood, W. Jeff Bryson, John J. Sollers, Debra O. Parker, Camela S. Barker, Jessica Miller, Brianna Downey, Asha Lockett, Jazmin Rosales, Courtney Munroe, Jr., Noa Wax, Sharena Scott   +14 more
doaj   +1 more source

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source

Can a regulatory instrument promote research and development into neglected diseases? A Policy Delphi Survey [PDF]

, 2012
Fehr A. Can a regulatory instrument promote research and development into neglected diseases? A Policy Delphi Survey. Bielefeld: University of Bielefeld; 2012.Background Rare diseases and neglected diseases are characterized by deficits in drug research ...
Fehr, Angela
core  

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

A call for global action for rare diseases in Africa

, 2019
The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare ...
Vorster, Barend C., Tebogo Selebatso, Kosaki, Kenjiro, Kumuthini, Judit, Selebatso, Moses, du Plessis, Kelly, Taruscio, Domenica, Austin, Christopher P., Nowak, Kristen, Mehrian-Shai, Ruty, Désirée Gavhed, Kelly du Plessis, Francois H. van der Westhuizen, Eda Selebatso, Barbara Wuebbels, Broley, Stephanie, Sergi Beltran, Zhang, Shuyang, Selebatso, Tebogo, Gemma A. Bilkey, Stojiljkovic, Maja, Chipeta, James, Emilio J. A. Roldan, William A. Gahl, Roldan, Emilio J.A., Gavhed, D. sirée, Larsson, Annika, Moses Selebatso, Barend C. Vorster, Gassman, Safiyya D., Forman, John, Manuel Posada, Cederroth, Helene, Nordgren, Ann, Reichardt, Juergen K.V., Emily P. Coles, Bilkey, Gemma A., van Karnebeek, Clara D. M., Gong, Mengchun, Kym M. Boycott, Posada, Manuel, Beltran, Sergi, Christoffer Nellaker, Maja Stojiljkovic, Adams, David R., Benjamin Djoudalbaye, Durhane Wong-Rieger, Sarah Bowdin, Clara D. M. van Karnebeek, Ratna D. Puri, Helene Cederroth, Puri, Ratna D., Dipesalema Joel, Judit Kumuthini, Pachter, Nicholas, Ann Nordgren, Christopher P. Austin, Selebatso, Eda, Mengchun Gong, James Chipeta, Nellaker, Christoffer, Stephanie Broley, Maximilian Muenke, Boycott, Kym M., Baynam, Gareth S., Gavhed, Désirée, Nicholas Pachter, Zhang, Feng, Boikobo Gaobinelwe, Maryke Schoonen, Kaufmann, Petra, John Forman, Petra Kaufmann, Roldan, Emilio J. A., Bayman, Gareth S., van Karnebeek, Clara D.M., Feng Zhang, Ruty Mehrian-Shai, David R. Adams, Gaobinelwe, Boikobo, Llera, Virginia A., Muenke, Maximilian, Coles, Emily P., Virginia A. Llera, Shuyang, Zhang, Reichardt, Juergen K. V., Wong-Rieger, Durhane, Groft, Stephen, Joel, Dipesalema, Gareth S. Baynam, Djoudalbaye, Benjamin, Annika Larsson, Juergen K. V. Reichardt, Easteal, Simon, Domenica Taruscio, Schoonen, Maryke, Kenjiro Kosaki, Kristen Nowak, Zhang Shuyang, Gahl, William A., Simon Easteal, Bowdin, Sarah, Stephen Groft, Safiyya D. Gassman, van der Westhuizen, Francois H., Wuebbels, Barbara   +105 more
core   +1 more source