Results 31 to 40 of about 81,063 (242)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

The Transcription Factor c-Maf Promotes the Differentiation of Follicular Helper T Cells

Frontiers in Immunology, 2017
Follicular helper T cells (Tfh) have been identified as the primary cell subpopulation regulating B cell responses in germinal centers, thus supporting high-affinity antibody production.
Fabienne Andris, Sébastien Denanglaire, Maelle Anciaux, Mélanie Hercor, Hind Hussein, Oberdan Leo   +5 more
doaj   +1 more source

Immunolocalization of cyclin D1 in the developing lens of c-maf -/- mice [PDF]

Acta Histochemica, 2006
The maf gene encodes a transcription factor protein containing a typical basic/leucine zipper domain structure, a motif for protein dimerization and DNA binding. It has been demonstrated that maf family genes have important roles in embryonic development and cellular differentiation.
Kase, Satoru, Yoshida, Kazuhiko, Sakai, Masaharu, Ohgami, Kazuhiro, Shiratori, Kenji, Kitaichi, Nobuyoshi, Suzuki, Yukari, Harada, Takayuki, Ohno, Shigeaki   +8 more
openaire   +3 more sources

Maf and Mafb control mouse pallial interneuron fate and maturation through neuropsychiatric disease gene regulation

eLife, 2020
​Maf (c-Maf) and Mafb transcription factors (TFs) have compensatory roles in repressing somatostatin (SST+) interneuron (IN) production in medial ganglionic eminence (MGE) secondary progenitors in mice.
Emily Ling-Lin Pai, Jin Chen, Siavash Fazel Darbandi, Frances S Cho, Jiapei Chen, Susan Lindtner, Julia S Chu, Jeanne T Paz, Daniel Vogt, Mercedes F Paredes, John LR Rubenstein   +10 more
doaj   +1 more source

Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy. [PDF]

PLoS ONE, 2018
We investigated whether polymorphisms (SNPs) in the promoter region of TNFA, or in the autoinflammatory TNFRSF1A and MEFV genes, concur with HLA-B27 in enhancing the risk of Spondyloarthritis (SpA) and/or in predicting the response to anti-TNFα treatment.
Ada Aita, Daniela Basso, Roberta Ramonda, Stefania Moz, Mariagrazia Lorenzin, Filippo Navaglia, Carlo-Federico Zambon, Andrea Padoan, Mario Plebani, Leonardo Punzi   +9 more
doaj   +1 more source

Ni-doped metal-azolate framework-6 derived carbon as a highly active catalyst for CO2 conversion through the CO2 hydrogenation reaction

Carbon Capture Science & Technology, 2023
A profound and accelerated solution towards mitigating atmospheric CO2 levels and converting the CO2 to useful fuels and chemicals, such as CO or CH4, would be to utilize and promote the catalytic CO2 hydrogenation reaction.
Pradeep S. Murthy, Liam Wilson, Xingmo Zhang, Weibin Liang, Jun Huang   +4 more
doaj   +1 more source

c-Maf is essential for the F4/80 expression in macrophages in vivo [PDF]

Gene, 2009
c-Maf, which is one of the large Maf transcription factors, can bind to Maf recognition element (MARE) and activates transcription of target genes. Although c-Maf is expressed in macrophages and directly regulates the expression of interleukin-10, detailed information regarding its function in the null mutant phenotype of tissue macrophages remain ...
Nakamura, M, Hamada, M, Hasegawa, K, Kusakabe, M, Suzuki, H, Greaves, D, Moriguchi, T, Kudo, T, Takahashi, S   +8 more
openaire   +3 more sources

Developmental programmes drive cellular plasticity, disease progression and therapy resistance in lung adenocarcinoma

Molecular Oncology, EarlyView.
This study shows that lung adenocarcinomas exploit developmental branching morphogenesis to acquire a therapy resistant basal‐like tumour cell state. This process was found to be regulated by combined TP53 loss‐of‐function and type‐I interferon signalling, identifying a novel axis for biomarker and therapeutic target discovery.
Kamila J Bienkowska, Stephany Gallardo, Nur S. Zainal, Leena Arora, Matthew Ellis, Maria‐Antoinette Lopez, Judith Austine, Sai Pittla, Serena J Chee, Aiman Alzetani, Emily C Shaw, Christian H Ottensmeier, Gareth J Thomas, Christopher J Hanley   +13 more
wiley   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, Accepted Article.
Objective VEXAS syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures. A VEXAS‐specific disease activity index (DAI) is an essential tool for reliably capturing changes in disease ...
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source