Results 101 to 110 of about 1,978,642 (301)

Cognitive Impairments in Ataxia-Telangiectasia

Pediatric Neurology Briefs, 2014
Investigators from Massachusetts General Hospital, Boston, and centers in Frankfurt, Germany, examined 22 patients with the classic phenotype of ataxia-telangiectasia for neurocognitive features, and compared patients with early stage cerebellar disease (
J Gordon Millichap, John J Millichap
doaj   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

Music Affinity in Wolf-Hirschhorn Syndrome

Pediatric Neurology Briefs, 2014
Investigators at Nihon University School of Medicine, Tokyo, Japan, report two patients with Wolf-Hirschhorn syndrome (WHS) who have a strong affinity for music, not previously described as a feature of this syndrome.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

Molecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak, Karolina Pytlak, Sandra Jaworowska, Bogusz Kulawiak, Piotr Bednarczyk   +4 more
wiley   +1 more source

Transition Care to Adult Epilepsy Centers

Pediatric Neurology Briefs, 2014
Epileptologists at University of Toronto and University of Saskatchewan, Canada, evaluated the complexity of epilepsy patients transitioned from child to adult care between tertiary centers compared to patients transferred from the community.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Peroxidasin enables melanoma immune escape by inhibiting natural killer cell cytotoxicity

Molecular Oncology, EarlyView.
Peroxidasin (PXDN) is secreted by melanoma cells and binds the NK cell receptor NKG2D, thereby suppressing NK cell activation and cytotoxicity. PXDN depletion restores NKG2D signaling and enables effective NK cell–mediated melanoma killing. These findings identify PXDN as a previously unrecognized immune evasion factor and a potential target to improve
Hsu‐Min Sung, David Bickel, Lena C. M. Krause, Daria Ezeriņa, Christian Ickes, Julian Wojtachnia, Christine S. Gibhardt, Magdalena Shumanska, Khadija Wahni, Andrea Paluschkiwitz, Julia Malo Pueyo, Ekaterina Baranova, Wim Vranken, Hedwig Stanisz, Ioana Stejerean‐Todoran, Michael P. Schön, Joris Messens, Ivan Bogeski   +17 more
wiley   +1 more source

Panayiotopoulos Syndrome vs. GERDs

Pediatric Neurology Briefs, 2014
Investigators at Sapienza University of Rome, Italy, describe 12 children with Panayiotopoulos syndrome (PS) misdiagnosed as gastroesophageal reflux disease (GERD).
J Gordon Millichap, John J Millichap
doaj   +1 more source

Tumor mutational burden as a determinant of metastatic dissemination patterns

Molecular Oncology, EarlyView.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal, Andrea Moreno‐Manuel, Miguel Salvadó‐Pertierra, Cristina Santos‐Vivas, Rebeca Sanz‐Pamplona   +4 more
wiley   +1 more source

Síndrome de Dandy-Walker: Relato de caso

Revista Brasileira de Cirurgia Plástica
A síndrome de Dandy-Walker (SDW) é uma condição neuro desenvolvimental rara caracterizada por anomalias na fossa posterior do crânio, com implicações clínicas significativas que incluem atrasos no desenvolvimento motor e cognitivo, além de outras ...
Joaquim José de Lima Silva
doaj   +1 more source

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source