Rapamycin Partially Reverts Cavernoma Endothelial Cell Phenotype and, When Combined With Lapatinib, Ameliorates Chronic Lesions.
The 2 matches
- [1] § Materials and Methods › Bioinformatic Analysis of RNA‐Seq ↔ EXECUTE_ALIGNMENT_AND_QUANTIFICATION.sh, lines 48–87 · score 0.72 · FastQC, strandedness, v0, v1, verified, Genome
- [2] § Materials and Methods › Bioinformatic Analysis of RNA‐Seq ↔ EXECUTE_ALIGNMENT_AND_QUANTIFICATION.sh, lines 89–144 · score 0.64 · Seq Poly, adapter, unstranded, Novogene, quality, RNA
Paper
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The authors' code
Shell · 144 lines · 5.4 KB · no license · 2 matches
- #############
- ## SAMPLES ##
- #############
- #ID run condition strand
- #E15_KO_NT E15_KO_NT_htseq KO_NT Unstranded
- #E15_KO_P E15_KO_P_htseq KO_P Unstranded
- #E15_KO_R24 E15_KO_R24_htseq KO_R24 Unstranded
- #E15_KO_R3 E15_KO_R3_htseq KO_R3 Unstranded
- #E15_WT_NT E15_WT_NT_htseq WT_NT Unstranded
- #E15_WT_P E15_WT_P_htseq WT_P Unstranded
- #E15_WT_R24 E15_WT_R24_htseq WT_R24 Unstranded
- #E15_WT_R3 E15_WT_R3_htseq WT_R3 Unstranded
- #E29_KO_NT E29_KO_NT_htseq KO_NT Unstranded
- #E29_KO_P E29_KO_P_htseq KO_P Unstranded
- #E29_KO_R24 E29_KO_R24_htseq KO_R24 Unstranded
- #E29_KO_R3 E29_KO_R3_htseq KO_R3 Unstranded
- #E29_WT_NT E29_WT_NT_htseq WT_NT Unstranded
- #E29_WT_P E29_WT_P_htseq WT_P Unstranded
- #E29_WT_R24 E29_WT_R24_htseq WT_R24 Unstranded
- #E29_WT_R3 E29_WT_R3_htseq WT_R3 Unstranded
- #E31_KO_NT E31_KO_NT_htseq KO_NT Unstranded
- #E31_KO_P E31_KO_P_htseq KO_P Unstranded
- #E31_KO_R24 E31_KO_R24_htseq KO_R24 Unstranded
- #E31_KO_R3 E31_KO_R3_htseq KO_R3 Unstranded
- #E31_WT_NT E31_WT_NT_htseq WT_NT Unstranded
- # Conda environments:
- # STRAND --> how_are_we_stranded_here v1.0.1
- # HTSEQ --> htseq-count v0.13.5
- # STAR --> STAR v2.7.9a
- ####################
- ## Create Folders ##
- ####################
- #mkdir 0.MISCELLANEOUS
- #mkdir RESULTS_STAR
- #mkdir RESULTS_STAR/NO_FILTERED
- #mkdir RESULTS_STAR/FILTERED
- #mkdir RESULTS_HTSEQ
- #mkdir RESULTS_HTSEQ/NO_FILTERED
- #mkdir RESULTS_HTSEQ/FILTERED
- #mkdir RESULTS_HTSEQ_REMOVED
- #mkdir RESULTS_HTSEQ_REMOVED/NO_FILTERED
- #mkdir RESULTS_HTSEQ_REMOVED/FILTERED
- #####################################
- ######### CHECK STRANDENESS #########
- ## how_are_we_stranded_here v1.0.1 ##
- #####################################
- conda activate STRAND
- # Done:
- for Sample in E15_KO_NT E15_KO_P E15_KO_R24 E15_KO_R3 E15_WT_NT E15_WT_P E15_WT_R24 E15_WT_R3 E29_KO_NT E29_KO_P E29_KO_R24 E29_KO_R3 E29_WT_NT E29_WT_P E29_WT_R24 E29_WT_R3 E31_KO_NT E31_KO_P E31_KO_R24 E31_KO_R3 E31_WT_NT
- do
- check_strandedness \
- --gtf ./UBUNTU_LAB/DATA/INDEX/MOUSE/STAR/Genome_Mus_musculus_GrcM39_104/Mus_musculus.GRCm39.104.gtf \
- --transcripts ./UBUNTU_LAB/DATA/INDEX/MOUSE/STAR/Genome_Mus_musculus_GrcM39_104/GRCm39_STAR_index/Mus_musculus.GRCm39.cdna.all.fa \
- --reads_1 ./SAMPLES/NO_FILTERED/"$Sample"/"$Sample"_1.fq.gz \
- --reads_2 ./SAMPLES/NO_FILTERED/"$Sample"/"$Sample"_2.fq.gz \
- > ./STRAND/"$Sample".txt
- done
- #########################
- ##### Check quality #####
- #########################
- ##### fqc 0.11.5 ########
- #########################
- # FastQC (v0.12.1) results previously generated by Novogene and verified locally.
- # Done:
- #for Sample in E15_KO_NT E15_KO_P E15_KO_R24 E15_KO_R3 E15_WT_NT E15_WT_P E15_WT_R24 E15_WT_R3 E29_KO_NT E29_KO_P E29_KO_R24 E29_KO_R3 E29_WT_NT E29_WT_P E29_WT_R24 E29_WT_R3 E31_KO_NT E31_KO_P E31_KO_R24 E31_KO_R3 E31_WT_NT
- #do
- # fastqc ./SAMPLES/NO_FILTERED/"$Sample"_1.fastq.gz
- # fastqc ./SAMPLES/NO_FILTERED/"$Sample"_2.fastq.gz
- #done
- ##############################
- ## Alignment (STAR 2.7.9a): ##
- ##############################
- # Star_index GRCm39 --> ./UBUNTU_LAB/DATA/INDEX/MOUSE/STAR/Genome_Mus_musculus_GrcM39_104/GRCm39_STAR_index
- # GTF GRCm39 --> ./UBUNTU_LAB/DATA/INDEX/MOUSE/STAR/Genome_Mus_musculus_GrcM39_104/Mus_musculus.GRCm39.104.gtf
- ######################
- ## Genome alignment ##
- ######################
- # --runMode: alignReads ==> Type of the run.
- # --clip3pAdapterSeq polyA
- # --genomeDir: ==> Directory where the genome is established.
- # --sjdbGTFfile ==> GTF file.
- # --outSAMtype BAM ==> BAM format (output).
- # SortedByCoordinate: output sorted by coordinate Aligned.sortedByCoord.out.bam file, similar to samtools sort command.
- # Inputs: 2 inputs files.
- # FILTERED_NOVOGENE_VERSION:
- # Done:
- for Sample in E15_KO_NT E15_KO_P E15_KO_R24 E15_KO_R3 E15_WT_NT E15_WT_P E15_WT_R24 E15_WT_R3 E29_KO_NT E29_KO_P E29_KO_R24 E29_KO_R3 E29_WT_NT E29_WT_P E29_WT_R24 E29_WT_R3 E31_KO_NT E31_KO_P E31_KO_R24 E31_KO_R3 E31_WT_NT
- do
- STAR --runMode alignReads --runThreadN 6 --readFilesCommand zcat --genomeDir ./UBUNTU_LAB/DATA/RNA-SEQ/INDEX/MOUSE/STAR/Genome_Mus_musculus_GrcM39_104/GRCm39_STAR_index --sjdbGTFfile ./UBUNTU_LAB/DATA/RNA-SEQ/INDEX/MOUSE/STAR/Genome_Mus_musculus_GrcM39_104/Mus_musculus.GRCm39.104.gtf --outSAMtype BAM SortedByCoordinate --outFileNamePrefix ./RESULTS_STAR/FILTERED_NOVOGENE/"$Sample"/"$Sample"_ --readFilesIn ./SAMPLES/FILTERED_NOVOGENE/"$Sample"/"$Sample"_1.clean.fq.gz ./SAMPLES/FILTERED_NOVOGENE/"$Sample"/"$Sample"_2.clean.fq.gz
- done
- # Using Novogene-filtered reads (*.clean.fq.gz), which have already had adapter/low-quality bases removed.
- ######################################################
- ## Count reads to features (Ensembl -> GRCm39.104): ##
- ######################################################
- # -s no --> library unstranded (confirmed by how_are_we_stranded_here)
- # -a 10 --> minimum alignment quality (MAPQ)
- conda activate htseq
- # FILTERED_NOVOGENE_VERSION:
- # Done:
- for Sample in E15_KO_NT E15_KO_P E15_KO_R24 E15_KO_R3 E15_WT_NT E15_WT_P E15_WT_R24 E15_WT_R3 E29_KO_NT E29_KO_P E29_KO_R24 E29_KO_R3 E29_WT_NT E29_WT_P E29_WT_R24 E29_WT_R3 E31_KO_NT E31_KO_P E31_KO_R24 E31_KO_R3 E31_WT_NT
- do
- htseq-count -a 10 -m intersection-nonempty -i gene_id -f bam -s no -r pos ./RESULTS_STAR/FILTERED_NOVOGENE/"$Sample"/"$Sample"_Aligned.sortedByCoord.out.bam ./UBUNTU_LAB/DATA/RNA-SEQ/INDEX/MOUSE/STAR/Genome_Mus_musculus_GrcM39_104/Mus_musculus.GRCm39.104.gtf > ./RESULTS_HTSEQ/FILTERED_NOVOGENE/"$Sample"/"$Sample"_htseq.txt
- done
- ##############################################################################################################
EXECUTE_ALIGNMENT_AND_QUANTIFICATION.sh at commit d966f9b, no license · at the source
Overview
- Department of Physiology, Centro Singular De Medicina Molecular E Enfermedades Crónicas (CiMUS) and Instituto Sanitario De Santiago De Compostela (IDIS) Universidade De Santiago De Compostela (USC) Santiago de Compostela A Coruña Spain
- Department of Pharmacology, Pharmacy, and Pharmaceutical Technology Instituto De Materiales (iMATUS), and Instituto Sanitario De Santiago De Compostela (IDIS), Universidade De Santiago De Compostela Santiago de Compostela A Coruña Spain
- Department of Biochemistry and Molecular Biology, Centro Singular De Medicina Molecular E Enfermedades Crónicas (CiMUS) and Instituto Sanitario De Santiago De Compostela (IDIS) Universidade de Santiago de Compostela (USC) Santiago de Compostela A Coruña Spain
Abstract
This study investigates the impact of rapamycin and propranolol on cerebral cavernous malformations (CCMs). Employing an unbiased transcriptomic analysis, we aimed to comprehensively elucidate the molecular mechanisms underlying these drug effects. Mouse Brain Microvascular Endothelial Cells (mBMEC) deficient in Ccm3 were treated with propranolol or rapamycin and were analysed by RNA‐seq and immunofluorescence. While propranolol shows limited efficacy in modulating the CCM transcriptomic phenotype in mBMEC, rapamycin demonstrates a significant impact. Rapamycin partially reverses gene expression changes induced by Ccm3 deficiency, restoring KLF2/
Reproduced under the paper's license (CC BY), from the paper cited above.
Repository
Its files are read in the Code ↔ Paper reader above, with 2 matches between paragraphs and lines of code.
dvidmd/GSE298723_Differential_Gene_Expression_Analysis_Garcia_Colomer_et_al
d966f9be30f3f48b597ef3d4216d0c112a368b9e, 29 October 2025Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
12 files
- ANALYSIS/
COMBINED/ , R, 157 linesDIFFERENTIAL_EXPRESSION_ ANALYSIS_COMBINED_ALL.Rm d - ANALYSIS/
CONTROL_VS_TREATMENT/ , R, 157 linesKO_NT_vs_KO_P.Rmd - ANALYSIS/
CONTROL_VS_TREATMENT/ , R, 157 linesKO_NT_vs_KO_R24.Rmd - ANALYSIS/
CONTROL_VS_TREATMENT/ , R, 157 linesKO_NT_vs_KO_R3.Rmd - ANALYSIS/
CONTROL_VS_TREATMENT/ , R, 160 linesWT_NT_vs_KO_NT.Rmd - EXECUTE_ALIGNMENT_AND_QU
ANTIFICATION.sh , Shell, 144 lines, 2 matches - FIGURES/
WT_NT_KO_NT_AND_KO_P/ , R, 205 linesHEATMAP_CODE_WT_NT_KO_NT _AND_KO_P.Rmd - FIGURES/
WT_NT_KO_NT_AND_KO_P/ , R, 185 linesPCA_CODE_WT_NT_KO_NT_AND _KO_P.Rmd - FIGURES/
WT_NT_KO_NT_AND_KO_R24/ , R, 205 linesHEATMAP_CODE_WT_NT_KO_NT _AND_KO_R24.Rmd - FIGURES/
WT_NT_KO_NT_AND_KO_R24/ , R, 185 linesPCA_CODE_WT_NT_KO_NT_AND _KO_R24.Rmd - FIGURES/
WT_NT_VS_KO_NT/ , R, 172 linesVOLCANO_PLOT_CODE_WT_NT_ VS_KO_NT.Rmd - README.md, Text, 54 lines
The paper's code and data availability statement is in the Data section.
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Data
No dataset and no data link were found in the paper.
Data Availability Statement
The RNA‐seq data is available in the NCBI GEO repository (accession GSE298723). RNA‐seq differential expression bioinformatic analysis and figure creation are at https://
Reproduced under the paper's license (CC BY), from the paper cited above.
Versions
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Version 1, 27 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 13 authors, 5 keywords, 10 MeSH terms, 2 funders, 55 references.
Cite
This paper
García‐Colomer, M., Martínez, J. E., Díaz‐Gómez, L., Sartages, M., Esquinas‐Román, E. M., Riobello, C., Martínez‐Delgado, D., González‐Pérez, D., Gómez‐Durán, A., Fidalgo, M., Varela‐Rey, M., Pombo, C. M., & Zalvide, J. (2026). Rapamycin Partially Reverts Cavernoma Endothelial Cell Phenotype and, When Combined With Lapatinib, Ameliorates Chronic Lesions. Journal of cellular and molecular medicine, 30(13), e71280. https://
BibTeX
@article{garciacolomer20
author = {García‐Colomer, Mar and Martínez, José E. and Díaz‐Gómez, Luis and Sartages, Miriam and Esquinas‐Román, Eva M. and Riobello, Cristina and Martínez‐Delgado, David and González‐Pérez, Diego and Gómez‐Durán, Aurora and Fidalgo, Miguel and Varela‐Rey, Marta and Pombo, Celia M. and Zalvide, Juan},
title = {{Rapamycin Partially Reverts Cavernoma Endothelial Cell Phenotype and, When Combined With Lapatinib, Ameliorates Chronic Lesions}},
journal = {Journal of cellular and molecular medicine},
year = {2026},
month = jul,
volume = {30},
number = {13},
pages = {e71280},
publisher = {Wiley},
issn = {1582-1838},
doi = {10.1111/
url = {https://
pmid = {42427156},
pmcid = {PMC13351306}
}
RIS
TY - JOUR
AU - García‐Colomer, Mar
AU - Martínez, José E.
AU - Díaz‐Gómez, Luis
AU - Sartages, Miriam
AU - Esquinas‐Román, Eva M.
AU - Riobello, Cristina
AU - Martínez‐Delgado, David
AU - González‐Pérez, Diego
AU - Gómez‐Durán, Aurora
AU - Fidalgo, Miguel
AU - Varela‐Rey, Marta
AU - Pombo, Celia M.
AU - Zalvide, Juan
TI - Rapamycin Partially Reverts Cavernoma Endothelial Cell Phenotype and, When Combined With Lapatinib, Ameliorates Chronic Lesions
T2 - Journal of cellular and molecular medicine
J2 - J Cell Mol Med
PY - 2026
DA - 2026/
VL - 30
IS - 13
SP - e71280
SN - 1582-1838
PB - Wiley
DO - 10.1111/
UR - https://
LA - en
ER -
CSL-JSON
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