Yumeng Wang

Feb 6, 2025 | nature.com | Fuying Chen |Ruoqu Wei |Yumeng Wang |Jianbo Wang |Chenfei Wang |Zhirong Yao | +4 more

Junctional epidermolysis bullosa (JEB) is characterized by mucocutaneous fragility. We enrolled 69 cases of recessive JEB, with 13.0% of these cases remained genetically undiagnosed following an initial exome sequencing. Among cases carried COL17A1 variants, this proportion can reach 31.6%. We employed genome sequencing to genetically diagnosis these cases. Four deep intronic variants (c.4156+117 G > A, c.2039-104 G > A and c.1267+237dupC in the COL17A1 gene and c.-38 + 2 T > C in the LAMB3 gene) were identified in six cases. The c.4156+117 G > A variant was found in three of the five cases, suggesting it may be a common deep intronic variant in Chinese JEB. Splicing analysis revealed that these variants caused splicing defect by inducing exon skipping, or pseudoexon insertion into the transcript in HaCaT cells, not in HEK293 cells. Our results emphasize the importance of selecting the right cell line for mRNA analysis.

Aug 7, 2024 | pubs.acs.org | Bing Liu |Ting Sun |Yumeng Wang |Xiao-Yu Xia

1. IntroductionClick to copy section linkSection link copied!Mitochondria, which are crucial organelles within eukaryotic cells, play essential roles in cellular physiology including energy production, metabolism, and signaling pathways. (1) Additionally, they are intimately involved in various disease pathologies and therapeutic interventions.

Jul 18, 2024 | onlinelibrary.wiley.com | Ting Liu |Xi Xu |Chuang Han |Yumeng Wang

CONFLICT OF INTEREST STATEMENT The authors declare that there are no conflicts of interest. Supporting Information Filename Description jph13361-sup-0001-FigureS1.docxWord 2007 document , 1.3 MB Figure S1. jph13361-sup-0002-FigureS2.docxWord 2007 document , 317.9 KB Figure S2. jph13361-sup-0003-TableS1.docxWord 2007 document , 44.3 KB Table S1. jph13361-sup-0004-TableS2.docxWord 2007 document , 18.2 KB Table S2. REFERENCES , , , & (2020).

Jan 30, 2024 | mdpi.com | Xiao Wang |Yumeng Wang |Yong Pang |Kan Wang

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Sep 11, 2023 | onlinelibrary.wiley.com | Xingfei Huang |Yumeng Wang |Xingyao Li |Feng Yuan

Conflict of interest The authors declare no conflict of interest. Supporting Information As a service to our authors and readers, this journal provides supporting information supplied by the authors. Such materials are peer reviewed and may be re-organized for online delivery, but are not copy-edited or typeset. Technical support issues arising from supporting information (other than missing files) should be addressed to the authors.