Results 41 to 50 of about 49,184 (327)

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source

Evaluation of in vitro toxicity of common phytochemicals included in weight loss supplements using 1H NMR spectroscopy

FEBS Open Bio, EarlyView.
We investigated the toxicity of 12 active compounds commonly found in herbal weight loss supplements (WLS) using human liver and colon cell models. Epigallocatechin‐3‐gallate was the only compound showing significant toxicity. Metabolic profiling revealed protein degradation, disrupted energy and lipid metabolism suggesting that the inclusion of EGCG ...
Emily C. Davies, Garth L. Maker, Ian F. Musgrave, Samantha Lodge   +3 more
wiley   +1 more source

A light‐triggered Time‐Resolved X‐ray Solution Scattering (TR‐XSS) workflow with application to protein conformational dynamics

FEBS Open Bio, EarlyView.
Time‐resolved X‐ray solution scattering captures how proteins change shape in real time under near‐native conditions. This article presents a practical workflow for light‐triggered TR‐XSS experiments, from data collection to structural refinement. Using a calcium‐transporting membrane protein as an example, the approach can be broadly applied to study ...
Fatemeh Sabzian‐Molaei, Fredrik Orädd, Konstantinos Magkakis, Magnus Andersson   +3 more
wiley   +1 more source

Efeito terapêutico da música em crianças em pós-operatório de cirurgia cardíaca The therapeutic effects of music in children following cardiac surgery

Jornal de Pediatria, 2006
OBJETIVO: Verificar de forma objetiva e subjetiva o efeito da música em crianças no pós-operatório de cirurgia cardíaca em uma unidade de terapia intensiva cardiopediátrica, em conjunto com ações da prática convencional.
Thamine P. Hatem, Pedro I. C. Lira, Sandra S. Mattos   +2 more
doaj   +1 more source

Avaliação de dor em expressão facial neonatal por meio de redes neurais profundas

, 2020
Neonatal pain assessment might suffer variation among health professionals, leading to late intervention and flimsy treatment of pain in several occasions. Therefore, it is essential to develop computational tools of pain assessment, less subjective and susceptible to external variable influences.
openaire   +1 more source

Refractory craniofacial pain: is there a role of periodontal disease as a comorbidity? Dor refratária crânio-facial: há algum papel para a doença periodontal como morbidade associada?

Arquivos de Neuro-Psiquiatria, 2009
OBJETIVE: To evaluate the influence of the periodontal disease (PD), a chronic infection, in patients with chronic craniofacial pain complaints. METHOD: Twenty patients with chronic craniofacial pain and PD (CFP group) and 20 patients with PD (PD group) were assessed before and after periodontal treatment (baseline, 30 and 180 days after treatment ...
Gisele Maria Campos Fabri, Silvia R.D.T. Siqueira, Caio Simione, Cibele Nasri, Manoel Jacobsen Teixeira, José Tadeu Tesseroli Siqueira   +5 more
openaire   +2 more sources

Spinal Cord Infarction Versus Idiopathic Transverse Myelitis: Clinical, Radiological, and Functional Insights From a Retrospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji, Jianlong Zhang, Yiming Shi, Shiyu Shan, Yang Du, Guangshuo Li, Ying Jin, Yani Zhang, Chuanying Wang, Yijun Lin, Yuhao Guo, Decai Tian, Xingquan Zhao, Tian Song   +13 more
wiley   +1 more source