Results 91 to 100 of about 3,489,004 (303)

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

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

Frontiers 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, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli, Manuela Locatelli, Elena Pedrini, Eric Staals, Giovanni Trisolino, Marcella Lanza, Luca Sangiorgi   +11 more
doaj   +1 more source

Thrombosis in rare bleeding disorders

Hematology, 2012
Inherited deficiencies of blood coagulation factors are usually associated with lifelong bleeding tendency. In addition to Haemophilias A and B and von Willebrand disease, congenital deficiencies of such factors as fibrinogen, prothrombin (FII)), FV, FVII, FX, FXI, FXIII, and combined deficiencies occur and can lead to a diversity of clinical ...
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

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

BMJ 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, Cecilie Fremstad Rustad, Ragnheidur Bragadottir, Hilde Nordgarden, Mina Susanne Weedon-Fekjær, Shahrzad Arfa, Pamela Marika Åsten, Kristian Tveten, Charlotte von der Lippe, Solrun Sigurdardottir   +9 more
doaj   +1 more source

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

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

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

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

The developmental consequences of rare chromosome disorders : two case reports [PDF]

, 2010
Aim: As molecular and cytogenetic testing becomes increasingly sophisticated, more individuals are being diagnosed with rare chromosome disorders.
Gilmore, Linda, Danielsson, Henrik, Rönnberg, Jerker, Nilsson, Lars-Göran,, Henry, L.A.   +4 more
core   +1 more source