Results 31 to 40 of about 117,669 (273)

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

Frontiers in Oncology, 2022
Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group of genetic diseases. To date, at least 13 IBMFS have been characterized.
Moisés Ó. Fiesco-Roa, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Paula Leal-Anaya, Renée van ‘t Hek, Talia Wegman-Ostrosky, Sara Frías, Sara Frías, Alfredo Rodríguez, Alfredo Rodríguez   +9 more
doaj   +1 more source

Environment, epigenetics and neurodegeneration: Focus on nutrition in Alzheimer's disease [PDF]

, 2015
Many different environmental factors (nutrients, pollutants, chemicals, physical activity, lifestyle, physical and mental stress) can modulate epigenetic markers in the developing and adult organism. Epigenetics, in turn, can cause and is associated with
FUSO, ANDREA, LUCARELLI, Marco, NICOLIA, Vincenzina   +2 more
core   +3 more sources

Klotho pathways, myelination disorders, neurodegenerative diseases, and epigenetic drugs [PDF]

, 2020
In this review we outline a rationale for identifying neuroprotectants aimed at inducing endogenous Klotho activity and expression, which is epigenetic action, by definition. Such an approach should promote remyelination and/or stimulate myelin repair by
Chen, Xiaohong, Faller, Douglas V., Glavas, Ioannis P., Harpp, David N., Kanara, Iphigenia, Kodukula, Krishna, Mavrakis, Anastasios N., Moos, Walter H., Pernokas, Julie, Pernokas, Mark, Pinkert, Carl A., Powers, Whitney R., Sampani, Konstantina, Steliou, Kosta, Vavvas, Demetrios G., Zamboni, Robert J.   +15 more
core   +1 more source

HIGD1A links SIRT1 activity to adipose browning by inhibiting the ROS/DNA damage pathway

Cell Reports, 2023
Summary: Energy-dissipating adipocytes have the potential to improve metabolic health. Here, we identify hypoxia-induced gene domain protein-1a (HIGD1A), a mitochondrial inner membrane protein, as a positive regulator of adipose browning.
Bai-Yu Li, Wan-Qiu Peng, Yang Liu, Liang Guo, Qi-Qun Tang   +4 more
doaj   +1 more source

Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy

Frontiers in Immunology
DNA repair disorders are characterized by defective DNA damage response and DNA replication pathways due to pathogenic variants in multiple genes involved in DNA repair, such as base excision, nucleotide excision, mismatch, non-homologous end joining ...
Aleksandra Szczawińska-Popłonyk
doaj   +1 more source

Phenotypic Heterogeneity by Germline Mismatch Repair Gene Defect in Lynch Syndrome Patients

Acta Médica Portuguesa, 2016
Introduction: Lynch syndrome is the most common form of hereditary colorectal cancer, being also responsible for endometrial and other types of cancers. It is associated with germline mutations in DNA mismatch repair genes and microsatellite instability.
Jorge Hernâni-Eusébio, Elisabete Barbosa   +1 more
doaj   +1 more source

Transcriptional changes in trichothiodystrophy cells [PDF]

, 2008
Mutations in three of the genes encoding the XPB, XPD and TTDA components of transcription factor TFIIH can result in the clinical phenotype of trichothiodystrophy (TTD).
Alan Lehmann, Bergmann, Boerma, Bootsma, Botta, Broughton, Coin, Coin, Compe, Compe, da Costa, de Boer, de Boer, Doniger, Drane, Drapkin, Dubaele, Giglia-Mari, Hohl, Hosack, Itin, Jacky Pallas, Judith Offman, Keriel, Koch-Paiz, Kraemer, Kraemer, Lee, Lehmann, Lehmann, Lehmann, Mike Hubank, Nakabayashi, Nipurna Jina, Park, Pemble, Ranish, Reardon, Schaeffer, Selzer, Sesto, Smyth, Storey, Taylor, Therina Theron, Viprakasit, Wu   +46 more
core   +2 more sources

Defective DNA repair mechanisms in prostate cancer: impact of olaparib [PDF]

, 2017
The field of prostate oncology has continued to change dramatically. It has truly become a field that is intensely linked to molecular genetic alterations, especially DNA-repair defects.
De Felice, Francesca, Marampon, Francesco, Marchetti, Claudia, Musella, Angela, Tombolini, Vincenzo   +4 more
core   +2 more sources

Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly [PDF]

, 2017
Mutations in citron (CIT), leading to loss or inactivation of the citron kinase protein (CITK), cause primary microcephaly in humans and rodents, associated with cytokinesis failure and apoptosis in neural progenitors.
Alessandra Maria Adelaide, Chiotto, Alessandro, Mauro, Alessia, Caramello, Bonaccorsi, Silvia, Chiara, Tocco, Federico Tommaso, Bianchi, Ferdinando Di, Cunto, Francesco, Neri, Francesco, Sgro, Gaia Elena, Berto, Gianmarco, Pallavicini, Laura, Tasca, Lorenzo, Priano, Marta, Gai, Maurizio, Gatti, Merigliano, Chiara, Nadia El, Assawy, Salvatore, Oliviero, Stephan, Geley, Ugo, Ala, Verni', Fiammetta, Yifan, Liu   +21 more
core   +3 more sources

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source