Results 201 to 210 of about 164,158 (344)

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green, Laura Horsfall, Azam Saied   +2 more
wiley   +1 more source

Engineering Tertiary Lymphoid Structures: Nanomedicine, Bioengineering, and Biomaterials for Precision Immunotherapy

Advanced NanoBiomed Research, EarlyView.
This review explains how biomaterials and nanoparticles can be used to induce or modulate tertiary lymphoid structures (TLSs), which are ectopic immune hubs that form in nonlymphoid tissues during chronic disease and cancer. By comparing different methods, the article highlights design principles for modeling TLSs or recapitulating specific TLS ...
Shaza Karaman, Mei ElGindi, Jeremy Teo
wiley   +1 more source

Genome‐Wide DNA Methylation Study Reveals Specific Signatures in the Affected Arterial Tissue of Patients With Giant Cell Arteritis

Arthritis &Rheumatology, EarlyView.
Objective Giant cell arteritis (GCA) is a large‐vessel vasculitis, potentially causing complications such as blindness and strokes. This study aims to gain insights into the pathogenesis of GCA by identifying specific DNA methylation signatures in the arterial tissue of patients with this vasculitis. Methods DNA methylation profiling was analyzed in 79
Gonzalo Borrego‐Yaniz, Ana Márquez, Elkyn Estupiñán‐Moreno, Laura C. Terrón‐Camero, Miguel A. González‐Gay, Santos Castañeda, Giuliana Guggino, David Saadoun, Pietro Lio, Simona Fontana, Martina Bonacini, Alessandro Rossi, Alberto Cavazza, Francesco Muratore, Carlo Salvarani, Nicolo Pipitone, Javier Martin, Stefania Croci, Lourdes Ortiz‐Fernández   +18 more
wiley   +1 more source

Structure, function and regulation of mammalian DNA methyltransferase [PDF]

, 1993
A Bolden, A Czank, A Lahm, AD Riggs, C. Lange, D Jahner, D Simon, D. Ingrosso, DV Santi, E Flatau, E Li, F Antequera, F Antequera, GP Pfeifer, GP Pfeifer, GP Pfeifer, J Posfai, J-P Jost, JC Wu, JR Chaillet, K. K. Hubrich, KE Zucker, KR Fox, L Chen, LA Sznyter, M Monk, M Monk, MN Schwartz, P Engler, P Renbaum, R Holliday, R. Lauster, RL Adams, RLP Adams, RR Meehan, S Klimasauskas, SK Howlett, SL Mansour, T Bestor, T Bestor, T Bestor, T Bestor, TH Bestor, TH Bestor, Y Gruenbaum, Y Gruenbaum, Y Uehara   +46 more
core   +1 more source

Linked Spontaneous CG→TA Mutations at CpG Sites in the Gene for Protein Kinase Regulatory Subunit

, 1992
Robert A. Steinberg, Karen B. Gorman
openalex   +2 more sources

Improved Messenger RNA Stability and Biocompatibility Through Self‐Gelatinizable Nucleic Acids

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Recent advances in the chemical synthesis and modification of messenger RNA (mRNA) have generated growing interest in mRNA‐based therapeutics. However, the inherent instability of mRNA in vivo and during storage remains a major challenge, requiring the development of safe and effective delivery systems.
Takumi Tanifuji, Kosuke Kusamori, Chihiro Tanaka, Hideki Sakai, Shoko Itakura, Makiya Nishikawa   +5 more
wiley   +1 more source

Harnessing nanomaterials to precisely regulate the immunosuppressive tumor microenvironment for enhanced immunotherapy

BMEMat, EarlyView.
The immunosuppressive tumor microenvironment, characterized by hypoxia, redox imbalance, elevated interstitial fluid pressure, and acidity, was comprehensively elucidated. This review discussed the etiology and consequences of the characteristics of the immunosuppressive tumor microenvironment, and analyzed the recent advancements in nanomaterials for ...
Wen Zhang, Xueyin Hu, Wei Cheng, Lumeng Zhang, Yuanfang Chen, Qinrui Fu, Luntao Liu, Saijun Fan   +7 more
wiley   +1 more source

Author response: Mutation saturation for fitness effects at human CpG sites

, 2021
Ipsita Agarwal, Molly Przeworski
openalex   +1 more source