Results 91 to 100 of about 94,951 (305)

Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]

, 2018
Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide, Cicchilitti, Lucia, Di Blasio, Anna Maria, Garofalo, Cecilia, Gentilini, Davide, Lattanzi, Giovanna, Mai, Antonello, Mattioli, Elisabetta, Piaggio, Giulia, Prencipe, Sabino, Remondini, Daniel, Scarano, Emanuela, Scotlandi, Katia, Valente, Sergio   +13 more
core   +2 more sources

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

Genomic instability and DNA replication defects in progeroid syndromes [PDF]

, 2018
Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physio- logical and premature aging.
Chiara Merigliano, Fiammetta Vernì, Isabella Saggio, Mattia La Torre, Romina Burla   +4 more
core   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Role of cellular senescence and NOX4-mediated oxidative stress in systemic sclerosis pathogenesis. [PDF]

, 2015
Systemic sclerosis (SSc) is a systemic autoimmune disease characterized by progressive fibrosis of skin and numerous internal organs and a severe fibroproliferative vasculopathy resulting frequently in severe disability and high mortality.
A Diazdeleon, A Dooley, A Erol, A Freund, A Gabrielli, A Gabrielli, A Gabrielli, A MacIntyre, A Salminen, A Servettaz, A Siani, A Sturrock, A Volpe, A Volpe, A Yoshizaki, AN Lyle, AZ Debbi, B Eckes, B Laleu, CB Harley, CD Bondi, CM Arlett, CM Stein, D Gvaramia, D Muñoz-Espin, D Muñoz-Espin, D Volonte, DE Furst, DF Murrell, E Rosato, E Savas, E Sikora, E Tourkina, E Tufvesson, ER Jarman, F Boin, F Gaggini, F Galdo Del, F Galdo Del, F Jiang, F Ogawa, F Ogawa, F Ogawa, F Tarhan, G Bai, G Simonini, GL Erre, GL Erre, H Sumimoto, H Xia, I Ben-Porath, I Cucoranu, I Montorfano, J Avouac, J Campisi, J El-Benna, J Goronzy, J Varga, JA Kim, JD Lambeth, JD Morrow, JF Passos, JF Passos, JH Chen, JL Barnes, JL Cracowski, JL Cracowski, JM Deursen van, JP Coppe, K Bedard, K Shimizu, KM Holmström, L Hayflick, L Hayflick, L Hecker, L Hecker, L Serrander, LL Song, M Böhm, M Chilosi, M Collado, M Elhai, M Geiszt, M Matucci-Cerinic, M Muller, M Schieber, M Storer, MD Mayes, MP Steele, MY Armanios, N Amara, N Duerrschmidt, N Manickam, N Sampson, O Babalola, P Cipriani, P Sambo, P Sambo, P Sambo, P Shivshankar, PS Tsou, Q Chen, QM Chen, R Salama, S Altenhöfer, S Bhattacharyya, S Parrinello, S Svegliati, Sergio A. Jimenez, SJ An, SK Parapuram, Sonsoles Piera-Velazquez, SR Datla, T Aoyama, T Finkel, T Kawahara, T Kuilman, T Ohtsuka, T Tchkonia, TK Kim, TR Katsumoto, VG Gorgoulis, VI Dumit, VJ Thannickal, WK Marut, WL Shen, X Duan, XM Wang, Y Allanore, Y Allanore, YH Paik   +130 more
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Oxytocin is an age-specific circulating hormone that is necessary for muscle maintenance and regeneration. [PDF]

, 2014
The regenerative capacity of skeletal muscle declines with age. Previous studies suggest that this process can be reversed by exposure to young circulation; however, systemic age-specific factors responsible for this phenomenon are largely unknown.
Chen, Robert Y, Chooljian, Marc S, Conboy, Irina M, Cousin, Wendy, Elabd, Christian, Jiang, Kevin P, Kung, Sunny, Li, Ju, Upadhyayula, Pavan   +8 more
core   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies

Clinical and Experimental Obstetrics & Gynecology, 2020
Introduction: Premature ovarian insufficiency (POI) is characterized by an unusually early depletion of the ovarian follicular pool in women. Genetic progress in recent years has allowed the identification of different genes that can predispose to the ...
R. Robeva, S. Andonova, M. Glushkova, T. Todorov, A. Elenkova, A. Savov, S. Zacharieva, A. Todorova   +7 more
doaj   +1 more source

Sarilumab in Polyarticular‐Course Juvenile Idiopathic Arthritis: Dose‐Finding and One‐Year Analysis of a Phase 2b, Open‐Label, Multicenter Study

Arthritis Care &Research, Accepted Article.
Objective This study assessed sarilumab in treating patients with polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods This phase 2b, open‐label study (NCT02776735) consisted of three sequential parts (each with a core‐treatment and extension‐phase). During part 1, three doses were assessed in two weight groups (Group A/B: ≥30–60 kg/≥10–<
Fabrizio De Benedetti, Inmaculada C. Penadés, Irina Nikishina, Ivan Foeldvari, Alberto J. Spindler, Anna Kozlova, Nadina Rubio‐Pérez, Pierre Quartier, Zbigniew Żuber, Raul Barria, Daniel Clemente, Gabriel V. Cornejo, Katherine Marzan, Nancy Liu, Christine Xu, Stephen DiMartino, Angeliki Giannelou, Fei Cao‐Ghoul, Bolanle Akinlade, Lydie Baret‐Cormel   +19 more
wiley   +1 more source