Results 231 to 240 of about 38,693 (276)

Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping. [PDF]

BMC Med Genomics
Zhang Y, Yang M, Yan L, Han C, Xue J, Geng J, Chen C, Bao L, Xu B, Wu S, Li H.   +10 more
europepmc   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, EarlyView.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source

Rare case of PLAG1::RUNX1 fusion mimicking classical t(8;21): the value of optical genome mapping in acute myeloid leukemia. [PDF]

Mol Cytogenet
Assaf N, Alawieh S, Hammoud R, Daudignon A, Luquet I, Lambert J, Terré C.   +6 more
europepmc   +1 more source

WTAP‐Mediated m6A Modification Targets the LRP1‐Lipid Metabolism Axis to Regulate Joint Cartilage Regeneration

Advanced Science, EarlyView.
WTAP drives cartilage regeneration by activating an LRP1‐dependent lipid metabolic program in macrophages, enhancing IL‐10 and TGF‐β secretion to promote chondrogenic differentiation. Leveraging this mechanism, virtual screening identifies LRP1‐targeting compounds that effectively stimulate cartilage repair, highlighting a druggable epigenetic ...
Chenyan Huang, Chenyu Deng, Zhengrong Gao, Chen Chen, Huimin Zheng, Yue Yang, Yan Wei   +6 more
wiley   +1 more source

Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort. [PDF]

Comput Struct Biotechnol J
Zhang Y, Chien WT, Chan JY, Cheung TY, He Z, Yip KH, Chan DF, Chong JS, Waye MM, Chair SY, Chan TF.   +10 more
europepmc   +1 more source

Optical genome mapping identifies rare structural variants in neural tube defects. [PDF]

Genome Res
Sahajpal NS, Dean J, Hilton B, Fee T, Skinner C, Hastie A, DuPont BR, Chaubey A, Friez MJ, Stevenson RE.   +9 more
europepmc   +1 more source

The Use of Optical Genome Mapping for the Detection of Tyrosine Kinase Gene Fusions in Myeloid/Lymphoid Neoplasms. [PDF]

J Cell Mol Med
Vanhevel J, Rack K, Ameye G, Mokrani H, De Bie J, Michaux L, Dewaele B.   +6 more
europepmc   +1 more source

Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay. [PDF]

Mol Cytogenet
Qin J, Zeng Y, Qin S, Wang W, Huang J, Wei X, Chang R, Zheng X, Li Y, Yuan D, Wei X.   +10 more
europepmc   +1 more source

Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies. [PDF]

Mov Disord
Cogan G, Daida K, Blauwendraat C, Billingsley K, Brice A.   +4 more
europepmc   +1 more source

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Optical genome mapping for prenatal diagnosis: A prospective study

Clinica Chimica Acta, 2023
Cytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality of DNA obtained from cultures of amniotic fluid (AF) and chorionic villi (CV) and evaluated the ability of OGM
Carole Goumy, Gwendoline Soler, Celine Pebrel-Richard   +2 more
exaly   +5 more sources