Results 51 to 60 of about 1,648 (159)

Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies [PDF]

, 2022
The genetic interferonopathies are a heterogeneous group of disorders thought to be caused by the dysregulated expression of interferons and are now commonly considered in the differential diagnosis of children presenting with recurrent or persistent ...
Benjamin, P, Boddaert, N, Carney, O, D'Arco, F, Eleftheriou, D, Hemingway, C, Lobel, U, Mankad, K, Roux, C-J, Sudhakar, S   +9 more
core   +1 more source

Regulation of normal B-cell differentiation and malignant B-cell survival by OCT2. [PDF]

, 2016
The requirement for the B-cell transcription factor OCT2 (octamer-binding protein 2, encoded by Pou2f2) in germinal center B cells has proved controversial.
Hodson, Daniel J, Kohlhammer, Holger, Nakagawa, Masao, Phelan, James D, Rui, Lixin, Schmitz, Roland, Shaffer, Arthur L, Staudt, Louis M, Waldmann, Thomas A, Webster, Daniel E, Wright, George W, Xiao, Wenming, Yang, Yandan   +12 more
core   +2 more sources

Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency [PDF]

The American Journal of Human Genetics, 2012
Multiple-respiratory-chain deficiency represents an important cause of mitochondrial disorders. Hitherto, however, mutations in genes involved in mtDNA maintenance and translation machinery only account for a fraction of cases. Exome sequencing in two siblings, born to consanguineous parents, with severe encephalomyopathy, choreoathetotic movements ...
Vedrenne, Vanessa, Gowher, Ali, de Lonlay, Pascale, Nitschké, Patrick, Serre, Valérie, Boddaert, Nathalie, Altuzarra, Cécilia, Mager-Heckel, Anne-Marie, Chretien, Florence, Entelis, Nina, Munnich, Arnold, Tarassov, Ivan, Rötig, Agnès   +12 more
openaire   +3 more sources

Molar–Incisor and Generalized Grade C Periodontitis: Distinct Microbiome–Immune Interactions Suggest Divergent Pathogenesis

Journal of Periodontal Research, EarlyView.
Molar–Incisor (PerioC‐MIP) and Generalized (PerioC‐G) Grade C Periodontitis in systemically healthy patients exhibit different microbiological, inflammatory markers, and genomic signatures, as the analysis of subgingival content from North Americans with PerioC‐MIP and Brazilians with PerioC‐G (geographic preference of each respective phenotype ...
Camila S. Stolf, Hélvis E. S. Paz, Murilo C. Paraluppi, Manuela M. V. Miguel, Mauro P. Santamaria, Mabelle F. Monteiro, Deyvid E. Amgarten, Raquel R. A. Franco, Luciana S. Branco‐de‐Almeida, Luciana M. Shaddox, Renato C. V. Casarin   +10 more
wiley   +1 more source

Ro5‐4864, a ligand of the mitochondrial translocator protein, protects against heart failure in mice via regulation of the p62‐Keap1‐Nrf2 axis

The Journal of Physiology, EarlyView.
Abstract figure legend Graphical abstract of the proposed Ro5‐4864 mechanism of action via p62‐Keap1‐Nrf2 axis in heart failure. TSPO, the 18‐kDa mitochondrial translocator protein of the outer mitochondrial membrane, can directly interact with p62 (also known as SQSTM1), which is crucial for the degradation of damaged mitochondria by autophagy ...
Daphne A. Diloretto, Phung N. Thai, Gabriela Grigorean, Veneese J. Brown, Tjien Dwyer, Nipavan Chiamvimonvat, Elena N. Dedkova, Saul Schaefer   +7 more
wiley   +1 more source

Genetic and phenotypic heterogeneity inPNPT1,MYO15A,PTPRQandSLC12A2variants detected among hearing impaired assortative mating families in Southern India [PDF]

, 2021
AbstractExome analysis was used to resolve the etiology of hearing loss (HL) in four South Indian assortative mating families. Six variants, including three novel ones, were identified in four genes:PNPT1p.Ala46Gly and p.Asn540Ser,MYO15Ap.Leu1485Pro and p.Tyr1891*,PTPRQp.Gln1336*, andSLC12A2p.Pro988Ser.
Paridhy Vanniya. S, Jayasankaran Chandru, Justin Margret Jeffrey, Tom Rabinowitz, Zippora Brownstein, Mathuravalli Krishnamoorthy, Karen B. Avraham, Le Cheng, Noam Shomron, C. R. Srikumari Srisailapathy   +9 more
openaire   +1 more source

Druggable genome‐wide Mendelian randomization analysis identifies potential treatment targets in vascular dementia

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 12, Issue 2, April/June 2026.
Abstract BACKGROUND There are currently no US Food and Drug Administration‐approved treatments for vascular dementia (VaD). Genome‐wide approaches have successfully identified druggable targets and treatments for various disorders. In this study, we performed druggable genome‐wide two‐sample Mendelian randomization (2SMR) analysis to identify possible ...
Matthew J. Lennon, Ying Xu, Anbupalam Thalamuthu, Karen Mather, Perminder S. Sachdev   +4 more
wiley   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 287-294, February 2026.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Age‐Associated Dysregulation of Postsynaptic Mitochondria Perturbs Reinnervation Kinetics

Aging Cell, Volume 25, Issue 1, January 2026.
We show that aging results in postsynaptic mitochondrial loss at the neuromuscular junction and impaired muscle reinnervation. In vivo CRISPR knockout of mitochondrial genes, CHCHD10 and CHCHD2, in young muscles led to fragmented endplates, aberrant innervation, and impaired transcriptional maturation of sub‐synaptic myonuclei during regeneration ...
Steve D. Guzman, Paula M. Fraczek, Klimentini Itsani, Esraa K. Furati, Devin Juros, Grace Kenney, Gregorio Valdez, Joe V. Chakkalakal, Carlos A. Aguilar   +8 more
wiley   +1 more source

Exome-wide association study of pancreatic cancer risk [PDF]

, 2018
We conducted a case-control exome-wide association study to discover germline variants in coding regions that affect risk for pancreatic cancer, combining data from 5 studies. We analyzed exome and genome sequencing data from 437 patients with pancreatic
Biankin, Andrew, Borgida, Ayelet, Cleary, Sean, Connor, Ashton A., Cook, Natalie, Denroche, Robert E., Gallinger, Steven, Grant, Robert C., Grimmond, Sean M., Klein, Alison P., Lemire, Mathieu, Moore, Malcolm, Peterson, Gloria, Roberts, Nicholas J., Smith, Alyssa L., Stein, Lincoln, Virtanen, Carl, Wilson, Julie M., Zogopolous, George   +18 more
core   +1 more source