Results 51 to 60 of about 13,071 (247)

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Genome Medicine, 2020
Background The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood.
Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox, Joshua M. Gorham, Angela C. Tai, Hongjian Qi, Steven DePalma, David McKean, Emily Griffin, Kathryn B. Manheimer, Daniel Bernstein, Richard W. Kim, Jane W. Newburger, George A. Porter, Deepak Srivastava, Martin Tristani-Firouzi, Martina Brueckner, Richard P. Lifton, Elizabeth Goldmuntz, Bruce D. Gelb, Wendy K. Chung, Christine E. Seidman, J. G. Seidman, Yufeng Shen   +23 more
doaj   +1 more source

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing

Molecular Genetics & Genomic Medicine, 2021
Background Fetal cardiac rhabdomyoma (CR) is strongly associated with tuberous sclerosis complex (TSC), which is caused by variants in TSC1 and TSC2. However, in 10%–15% of patients with clinically confirmed TSC, no TSC1/TSC2 variants are identified by ...
Siyu Wang, Hairui Sun, Jianbin Wang, Xiaoyan Gu, Lu Han, Yuduo Wu, He Yan, Ling Han, Hongjia Zhang, Yihua He   +9 more
doaj   +1 more source

Perivascular Matrix Densification Dysregulates Angiogenesis and Activates Pro‐Inflammatory Endothelial Cells

Advanced Science, EarlyView.
Perivascular matrix densification promotes the emergence of aberrant endothelial tip cells (ATECs) that invade and persist within fibrotic microenvironments. Using in vivo lineage tracing and a human microvessel model, this study shows that fibrous matrix cues destabilize VE‐cadherin–mediated junctions to gate TGF‐β signaling, inducing a pro ...
Jingyi Xia, William Y. Wang, Kyle A. Jacobs, Kairav Maniar, Daphne Lin, Evan H. Jarman, Daniel L. Matera, Kristen Loesel, Christopher D. Davidson, Harrison L. Hiraki, Xiaotian Tan, Eve H. Shikanov, Robert N. Kent, Carole Parent, Xudong Fan, Ariella Shikanov, Matthew L. Kutys, Brendon M. Baker   +17 more
wiley   +1 more source

Hypothesis: Somatic Mosaicism and Parkinson Disease [PDF]

Experimental Neurobiology, 2014
Mutations causing genetic disorders can occur during mitotic cell division after fertilization, which is called somatic mutations. This leads to somatic mosaicism, where two or more genetically distinct cells are present in one individual. Somatic mutations are the most well studied in cancer where it plays an important role and also have been ...
Kim, Han-Joon, Jeon, Beom S.
openaire   +2 more sources

A 3D Human Bone and Bone Marrow‐on‐a‐Chip Model for In Vitro Bone Remodeling and Immune Cell Maintenance

Advanced Science, EarlyView.
This study presents a human Bone (and Bone Marrow)‐on‐a‐Chip model based on native human bone scaffolds and autologous cells. Dynamic perfusion and sequential cell seeding replicate the physiological bone remodeling process in vitro, enabling the long‐term culture of functional, mature bone marrow immune subpopulations.
Nina Stelzer, Melanie‐Jasmin Ort, Kristian Händler, Emely Bortel, Ioanna Maria Dimitriou, Martin Textor, Georg N. Duda, Janosch Schoon, Uwe Marx, Uwe Kornak, Annika Winter, Bernhard Hesse, Stefanie Donner, Sebastian Hardt, Oliver Klein, Simon Reinke, Malte Spielmann, Sven Geißler   +17 more
wiley   +1 more source

Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism

International Journal of Genomics, 2015
Somatic genome variations (mosaicism) seem to represent a common mechanism for human intercellular/interindividual diversity in health and disease. However, origins and mechanisms of somatic mosaicism remain a matter of conjecture.
Ivan Y. Iourov, Svetlana G. Vorsanova, Maria A. Zelenova, Sergei A. Korostelev, Yuri B. Yurov   +4 more
doaj   +1 more source

Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Human Genomics, 2021
Background Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF) 
Daniel D. Domogala, Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina V. Schulze, Yaping Yang, Theresa A. Wilson, Ido Machol, Pengfei Liu, Paweł Stankiewicz   +9 more
doaj   +1 more source

Nanomaterials for Allergy Diagnosis and Treatment: Advances, Opportunities and Translational Challenges

Advanced Science, EarlyView.
Nanomaterials offer dual applications in allergy management. For diagnosis, nanomaterials enhance analytical sensitivity and improve detection in specific IgE and functional assays such as the basophil activation test (BAT). For allergen‐specific immunotherapy, nanomaterials enable allergen masking and controlled release, and effectively modulate the ...
Madiha Habib, Shan Jiang, Joyce ZX Lee, CW Lim, HL Yeung, Nicki YH Leung, Patrick SC Leung, Ting F Leung, Christine YY Wai   +8 more
wiley   +1 more source

Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique

Molecular Genetics & Genomic Medicine, 2019
Background Mutations of human androgen receptor (AR) gene are responsible for androgen insensitivity syndrome (AIS). Variable phenotypes and androgen receptor binding activity have permitted the classification of AIS into complete (CAIS), partial (PAIS),
Hao Wang, Hui Zhu, Nan Wang, Tong Cheng, Bing Han, Shuangxia Zhao, Huaidong Song, Kaixiang Cheng, Yang Liu, Jie Qiao   +9 more
doaj   +1 more source