Results 81 to 90 of about 17,518 (240)

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

Advanced Science, EarlyView.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas, Ching‐Yao Yang, Kexin Zhang, Liam Wetzel, Dina Bugybayeva, Julia Ferguson, Md Mahmudul Hasan, William Samsa, Nandita Patil, Anshul Dash, Tarini Gowda, Xiongwei Zhu, Feixiong Cheng, Tian Liu   +13 more
wiley   +1 more source

The discovery and importance of genomic imprinting

eLife, 2018
The discovery of genomic imprinting by Davor Solter, Azim Surani and co-workers in the mid-1980s has provided a foundation for the study of epigenetic inheritance and the epigenetic control of gene activity and repression, especially during development ...
Anne C Ferguson-Smith, Deborah Bourc'his
doaj   +1 more source

CD177 Deficiency Defines a Stable Subtype of Human Neutrophil Granulocytes with Tumor Promoting Activity

Advanced Science, EarlyView.
Human neutrophils exist as two epigenetically imprinted subtypes defined by stable CD177 expression or absence — a ratio that persists across time, circadian rhythms, and inflammation. CD177− neutrophils display a distinct molecular landscape enriched in arginase 1 and lipid metabolism markers, accumulate in head‐and‐neck tumors, and associate with ...
Marcel Jung, Alexander Beer, Susmita Ghosh, Ekaterina Pylaeva, Belal Alshaar, Tobias Tertel, Nils Bastian Leimkühler, Thomas Schroeder, Janine Gronewold, Nina Hagemann, Ayan Mohamud Yusuf, Benedikt Frank, Yiqiao Zhang, Dennis Nagel, Kim Schloeßer, Laura Karsch, Emily Hedtfeld, Sabrina Lohmann, Kathrin Blank, Andreas Kraus, Max Krumbein, Nastassia Kabankova, Hongxiao Wang, Almke Bader, Mathis Richter, Fengjun Zhang, Raphael Chevre, Bernd Giebel, Stephan Lang, Anika Grüneboom, Daniela Maier‐Begandt, Anja Hasenberg, Oliver Soehnlein, Hans Christian Reinhardt, Sven Heiles, Jianxu Chen, Jadwiga Jablonska, Albert Sickmann, Dirk M. Hermann, Matthias Gunzer   +39 more
wiley   +1 more source

Spectrum of genetic forms of obesity and related disorders: Prader-Willi-like syndromes (part 1)

Ожирение и метаболизм
Prader–Willi–like syndromes (PWLS) represent a heterogeneous group of disorders characterized by a set of key clinical features, including muscular hypotonia, obesity, psychomotor and speech developmental delay, and behavioral problems, in the absence of
E. G. Panchenko, E. P. Atavina-Ermakova, A. F. Nikolaeva, T. V. Boyko, O. V. Vasyukova, D. A. Kopytina, N. G. Mokrysheva, S. I. Kutsev   +7 more
doaj   +1 more source

Genomic imprinting disorders in humans: a mini-review [PDF]

Journal of Assisted Reproduction and Genetics, 2009
Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. Imprinted genes show expression from only one member of the gene pair (allele) and their expression are determined by the parent during production of the gametes.
openaire   +2 more sources

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing

Clinical Epigenetics
Adaptive nanopore sequencing as a diagnostic method for imprinting disorders and episignature analysis revealed an intragenic duplication of Exon 6 and 7 in UBE3A (NM_000462.5) in a patient with relatively mild Angelman-like syndrome.
Laura Holthöfer, Stefan Diederich, Verena Haug, Lioba Lehmann, Charlotte Hewel, Norbert W. Paul, Susann Schweiger, Susanne Gerber, Matthias Linke   +8 more
doaj   +1 more source

Possibilities and Limitations of Prenatal Diagnosis of Rare Imprinting Syndromes: Prader–Willi Syndrome

Children
Background: Prader–Willi syndrome (PWS) is a multisystemic complex imprinting disorder. Prenatal diagnosis of PWS is still a challenge with non-specific ultrasound markers and limitations for diagnosis with non-invasive screening methods.
Simona Anzhel, Nikolinka Yordanova, Emil Kovachev, Darina Krumova, Elis Ismail   +4 more
doaj   +1 more source

Paternal Sperm Gnas‐ICR Epigenetic Programming Contributes to PPP‐Like Phenotypes in Female Offspring

Advanced Science, EarlyView.
A paternal glucocorticoid–sperm Gnas‐ICR axis is linked to ovarian endocrine programming in female offspring. Paternal preconception caffeine exposure elevates corticosterone, promotes sperm Gnas‐ICR hypermethylation, and is associated with ovarian Gnas upregulation, cAMP/PKA/CREB–StAR activation, enhanced estradiol synthesis, and PPP‐like phenotypes ...
Jing Huang, Lu Chen, Tiancheng Wu, Yating Li, Hui Wang   +4 more
wiley   +1 more source