Results 91 to 100 of about 2,304,385 (312)

Mitochondrial DNA and disease

Annals of Medicine, 2005
The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence
Salvatore, Dimauro, Guido, Davidzon
openaire   +2 more sources

Spatial and single‐nuclei transcriptomics reveals idiosyncratic and generic patterns in papillary and anaplastic thyroid cancers

Molecular Oncology, EarlyView.
Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur, Joel Rodrigues Vitória, Manuel Saiselet, Ligia Craciun, Denis Larsimont, Anne Lefort, Frédérick Libert, Carine Maenhaut, Sabine Costagliola, Maxime Tarabichi, Mirian Romitti, Vincent Detours   +11 more
wiley   +1 more source

From cheek swabs to consensus sequences : an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes [PDF]

, 2014
Background: Next-generation DNA sequencing (NGS) technologies have made huge impacts in many fields of biological research, but especially in evolutionary biology. One area where NGS has shown potential is for high-throughput sequencing of complete mtDNA
Matisoo-Smith, Elizabeth A, Soria Hernanz, David F, Schurr, Theodore G., Stanton, Jo-Ann, Martínez-Cruz, Begoña, White, W. T., GaneshPrasad, Arun Kumar, Lacerda, Daniela R., Matisoo Smith, Elizabeth, White, W. Timothy J., Vilar, Miguel G., Platt, Daniel E., Parida, Laxmi, Hernanz, Soria, Martínez Cruz, Begoña, Kaplan, Matthew E., Clarke, Andrew, Schurr, Theodore G, Matisoo-Smith, Lisa, Matisoo-Smith, Elizabeth, Mitchell, R. John, Matthew E Kaplan, Vieira, Pedro Paulo, Jo-Ann L Stanton, Matisoo-Smith, Elizabeth A., Dulik, Matthew C., Zalloua, Pierre A., Kaplan, Matthew, Tyler-Smith, Chris, Kaplan, M., W Timothy J White, Santhakumari, Arun Varatharajan, Haak, Wolfgang, Quintana-Murci, Lluis, Stefan Prost, null null, Comas, David, Ziegle, Janet S., Swamikrishnan, Pandikumar, Kaplan, Matthew E, Wells, R. Spencer, HASH(0x55a67fb2a340), White, W Timothy J, Cooper, Alan, Clarke, Andrew C, Der Sarkissian, Clio S.I., The, Genographic Consortium, Stanton, J., Bertranpetit, Jaume, 1952-, White, W Timothy J., Stanton, Jo-Ann L., Stanton, Jo Ann L., Pitchappan, Ramasamy, Adhikarla, Syama, Santos, Fabrício R., Comas, David, 1969-, Haber, Marc; id_orcid, Soodyall, Himla, Royyuru, Ajay K., Prost, Stefan, Adler, Christina J., Renfrew, Colin, Jin, Li, Clark, Andrew, Elizabeth A Matisoo-Smith, Andrew C Clarke, Matisoo-Smith, E., Li, Shilin, The Genographic Consortium, Balanovsky, Oleg, Balanovska, Elena, Clarke, Andrew C., Prost, S., Merchant, Nirav C., Andrew C Clarke, Owings, Amanda C., Stanton, Jo-Ann L, White, W., Bertranpetit, Jaume, Gaieski, Jill B., Genographic Consortium, Haber, Marc, 1980-, Genographic Consortium,, Clarke, A.   +83 more
core   +1 more source

Twin pair analysis uncovers links between DNA methylation, mitochondrial DNA quantity and obesity

Nature Communications
Alterations in mitochondrial metabolism in obesity may indicate disrupted communication between mitochondria and nucleus, and DNA methylation may influence this interplay.
Aino Heikkinen, Vivienne F. C. Esser, Seung Hyuk T. Lee, Sara Lundgren, Antti Hakkarainen, Jesper Lundbom, Juho Kuula, Per-Henrik Groop, Sini Heinonen, Sergio Villicaña, Jordana T. Bell, Alice Maguolo, Emma Nilsson, Charlotte Ling, Allan Vaag, Päivi Pajukanta, Jaakko Kaprio, Kirsi H. Pietiläinen, Shuai Li, Miina Ollikainen   +19 more
doaj   +1 more source

Mitochondrial E3 ligase MARCH5 is a safeguard against DNA-PKcs-mediated immune signaling in mitochondria-damaged cells

Cell Death and Disease, 2023
Mitochondrial dysfunction is important in various chronic degenerative disorders, and aberrant immune responses elicited by cytoplasmic mitochondrial DNA (mtDNA) may be related.
June Heo, Yeon-Ji Park, Yonghyeon Kim, Ho-Soo Lee, Jeongah Kim, Soon-Hwan Kwon, Myeong-Gyun Kang, Hyun-Woo Rhee, Woong Sun, Jae-Ho Lee, Hyeseong Cho   +10 more
doaj   +1 more source

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source

Peripheral mitochondrial DNA as a neuroinflammatory biomarker for major depressive disorder

Neural Regeneration Research
In the pathogenesis of major depressive disorder, chronic stress-related neuroinflammation hinders favorable prognosis and antidepressant response. Mitochondrial DNA may be an inflammatory trigger, after its release from stress-induced dysfunctional ...
Jinmei Ye, Cong Duan, Jiaxin Han, Jinrong Chen, Ning Sun, Yuan Li, Tifei Yuan, Daihui Peng   +7 more
doaj   +1 more source

Generation of somatic mitochondrial DNA-replaced cells for mitochondrial dysfunction treatment

Scientific Reports, 2021
Mitochondrial diseases currently have no cure regardless of whether the cause is a nuclear or mitochondrial genome mutation. Mitochondrial dysfunction notably affects a wide range of disorders in aged individuals, including neurodegenerative diseases ...
Hideki Maeda, Daisuke Kami, Ryotaro Maeda, Akira Shikuma, Satoshi Gojo   +4 more
doaj   +1 more source

ADP‐ribosylation: An emerging regulator of the epigenome

Molecular Oncology, EarlyView.
ADP‐ribosylation has emerged as a dynamic epigenetic signaling mechanism that modifies histones and chromatin‐associated proteins. Through coordinated PARylation and MARylation, it integrates with other histone modifications to regulate chromatin structure, transcription factor activity, and gene expression, influencing genome function and disease ...
Cristel V. Camacho, Chenqian Liu, W. Lee Kraus   +2 more
wiley   +1 more source

Unraveling the epigenetic code in cancer cell–tumor microenvironment crosstalk

Molecular Oncology, EarlyView.
Epigenetic regulation is a key driver of cancer development and progression. Diverse epigenetic alterations in cancer cells and components of the tumor microenvironment (TME) orchestrate their communication through multiple mechanisms. We discuss how the epigenetic code coordinates bidirectional cancer cell–TME crosstalk to promote cancer progression ...
Ji Hoon Park, Mi‐Young Kim
wiley   +1 more source