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Träfflista för sökning "WFRF:(Fang MY) ;pers:(Liu X)"

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1.	Jakobsson, J., et al. (author) Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 2021 In: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 17:1, s. 1-382 Journal article (peer-reviewed)
2.	Abolhassani, H, et al. (author) Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 21:1, s. 243-251 Journal article (peer-reviewed)
3.	Chen, A, et al. (author) Single-cell spatial transcriptome reveals cell-type organization in the macaque cortex 2023 In: Cell. - : Elsevier BV. - 1097-4172 .- 0092-8674. ; 186:17, s. 3726- Journal article (peer-reviewed)
4.	Fang, MY, et al. (author) Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis 2019 In: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 39:2, s. 131-134 Journal article (other academic/artistic)
5.	Fang, MY, et al. (author) T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects 2022 In: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 42:2, s. 375-393 Journal article (peer-reviewed)abstract Both DNA damage response and methylation play a crucial role in antigen receptor recombination by creating a diverse repertoire in developing lymphocytes, but how their defects relate to T cell repertoire and phenotypic heterogeneity of immunodeficiency remains obscure. We studied the TCR repertoire in patients with the mutation in different genes (ATM, DNMT3B,ZBTB24,RAG1,DCLRE1C, andJAK3) and uncovered distinct characteristics of repertoire diversity. We propose that early aberrancies in thymus T cell development predispose to the heterogeneous phenotypes of the immunodeficiency spectrum. Shorter CDR3 lengths in ATM-deficient patients, resulting from a decreased number of nucleotide insertions during VDJ recombination in the pre-selected TCR repertoire, as well as the increment of CDR3 tyrosine residues, lead to the enrichment of pathology-associated TCRs, which may contribute to the phenotypes of ATM deficiency. Furthermore, patients withDNMT3BandZBTB24mutations who exhibit discrepant phenotypes present longer CDR3 lengths and reduced number of known pathology-associated TCRs.
6.	Szczerkowska, KI, et al. (author) Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype 2019 In: Cell & bioscience. - : Springer Science and Business Media LLC. - 2045-3701. ; 9, s. 21- Journal article (peer-reviewed)
7.	2021 swepub:Mat__t

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Type of publication: journal article (6)

Type of content: peer-reviewed (5); other academic/artistic (1)

Author/Editor: Liu, X (7)Undo refine; Fang, MY (4); Wang, H. (3); Zhang, H. (3); Abolhassani, H (3); Hammarstrom, L (3); show more...; Wang, B. (3); Jiang, CY (3); Chen, L (2); Chen, S. (2); Gupta, S. (2); Li, Y. (2); Wang, J. (2); Wu, M. (2); Yang, H. (2); Yang, Y. (2); Zhao, Y. (2); Li, J. (2); Zhang, Y. (2); Sharma, S. (2); Kumar, A. (2); Singh, R. (2); Hussain, S. (2); Chen, W. (2); Chung, S. (2); Zhang, W. (2); Lee, M (2); Li, Z (2); Huang, X. (2); Ali, M (2); Singh, A (2); Sharma, P. (2); Lin, Y (2); Wong, E. (2); Li, T. (2); Li, C. (2); Aghamohammadi, A (2); Pan-Hammarstrom, Q (2); Harris, J. (2); Sharma, K (2); Hwang, S (2); Singh, S (2); Nassif, M (2); Sarin, A (2); Zhao, S (2); Li, M. (2); Lee, C. (2); Taylor, A (2); Jakobsson, J. (2); Ismail, N. (2); show less...

University: Karolinska Institutet (7); Umeå University (1); Royal Institute of Technology (1); Stockholm University (1); Linköping University (1); Lund University (1); show more...; Swedish University of Agricultural Sciences (1); show less...

Language: English (7)

Research subject (UKÄ/SCB): Medical and Health Sciences (2); Natural sciences (1)

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