Results 91 to 100 of about 3,349,140 (303)

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

Molecular Autism, 2018
Background A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).
Heidi Elisabeth Nag, Ann Nordgren, Britt-Marie Anderlid, Terje Nærland   +3 more
doaj   +1 more source

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

, 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  

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

Involvement of patient organisations in research activities: actions taken and lessons learned in a clinical research study for osteogenesis imperfecta

Orphanet Journal of Rare Diseases
Background Rare diseases are chronic, progressive, and debilitating conditions, affecting 3.5–5.9% of the global population. Clinical research studies are crucial for developing new diagnostic approaches and treatments and for overcoming the lack of ...
Marina Mordenti, Leonardo Panzeri, Alice Moroni, Manila Boarini, Marta Calzolari, Francesca Gurioli, Chiara Pollicini, Giulia Rogati, Alberto Leardini, Luca Sangiorgi   +9 more
doaj   +1 more source

Crouzon's Syndrome: A Rare Genetic Disorder

International Journal of Clinical Pediatric Dentistry, 2016
Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
Kaushik, Anupriya, Bhatia, Hindpal, Sharma, Naresh   +2 more
openaire   +2 more sources

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

Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients

Frontiers in Genetics, 2019
BackgroundAutism spectrum disorder (ASD) is genetically and phenotypically heterogeneous. Former genetic studies suggested that both common and rare genetic variants play a role in the etiology.
Péter Balicza, Noémi Ágnes Varga, Bence Bolgár, Klára Pentelényi, Renáta Bencsik, Anikó Gál, András Gézsi, Csilla Prekop, Viktor Molnár, Mária Judit Molnár   +9 more
doaj   +1 more source

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

Rare and Special

, 2015
The blog will act as a dynamic news resource for the international community of rare book, manuscript, archival and special collections; open to contribution from all working within the sector and edited by the IFLA Rare Book and Special Collections ...
IFLA Rare Books & Special Collections Section
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Autumn courses at Rare Books School (Virginia, USA)

, 2016
This fall, Rare Book School will offer three courses that may be of interest to members of the IFLA Rare & Special community. --- Special Collections Librarianship aims to teach the current issues, best practices, organizational development, knowledge ...
IFLA Rare Books & Special Collections Section
core   +1 more source