Dataset related to article "Molecular Studies and ex vivo Complement assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant".
Creators
- 1. Istituto di Ricerche Farmacologiche Mario Negri IRCCS
Contributors
Researchers:
- 1. Istituto di Ricerche Farmacologiche Mario Negri IRCCS
Description
The files contain raw data related to the article "Molecular Studies and ex vivo Complement assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant", available from https://www.frontiersin.org/articles/10.3389/fmed.2020.579418/full.
File "Genetic and clinical data":
- In the sheet "485 aHUS patients" are reported data obtained from the screening of 485 unrelated patients with aHUS including rare variants (RVs) in complement disease-associated genes (CFH, CD46, CFI, C3, CFB and THBD), the presence of CFH-CFHR genomic rearrangements and/or anti-FH antibodies.
- In the sheet "Pedigrees with c.286+2T>G" are listed all pedigrees carrying the c.286+2T>G variant, the diseases status of all subjects and the age of disease onset of patients. In bold are indicated pedigrees (n=7) used to study the penetrance of aHUS in c.286+2T>G carriers.
- In the sheet "Haplotypes" are reported genotypes used to evaluate the association between the presence of CFH-H3 and CD46GGAAC risk haplotypes and aHUS. Results of this analysis are reported in Table 3 of the published paper.
- In the sheet "Raw data Fig.2" are reported data of "platelet count" and "serum creatinine" of the proband used to elaborate Figure 2.
In the file "C3 and C5b-9 deposition" is reported the quantification of serum-induced C3 and C5b-9 deposition on human microvascular endothelial cell line (HMEC-1). The fluorescent staining was evaluated with Image J and expressed as pixel2 per field analyzed. The fields with the lowest and highest values were excluded from calculation. These values were used to elaborate data included in Table 2 and in Figure 5.
In the file "CD46 protein expression" are reported data of CD46 expression on peripheral blood mononuclear cells (PBMCs) isolated from the proband, his relatives and healthy volunteers. Data of specific expression of CD46 (evaluated for SCR1 or for SCR4 as reported in the materials and methods section) are indicated as median fluorescence intensity (MFI) percentage compared with the control.
In the ppt file "cDNA amplification and sequencing results" is reported:
- the agarose gel image of the amplified cDNA from the control (ctr), the proband (IV-8) and his healthy father (III-7).
- Electropherograms obtained from the cDNA sequencing of the control (ctr), the proband (IV-8) and his healthy father (III-7).
Additional data will be made available by the authors, without undue reservation, to any qualified researcher.
Notes
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Additional details
Related works
- Documents
- Journal article: 10.3389/fmed.2020.579418 (DOI)
Funding
References
- Piras R, Iatropoulos P, Bresin E, Todeschini M, Gastoldi S, Valoti E, Alberti M, Mele C, Galbusera M, Cuccarolo P, Benigni A, Remuzzi G, Noris M. Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant. Front Med (Lausanne). 2020 Nov 3;7:579418. doi: 10.3389/fmed.2020.579418. PMID: 33224962; PMCID: PMC7670076.