Larissa Brussa Reis
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View article: Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state
Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state Open
Tuberous sclerosis complex (TSC) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in TSC1 or TSC2 genes and characterized by mTORC1 hyperactivation. TSC-associated tumors develop after loss of hetero…
View article: The paradox of autophagy in Tuberous Sclerosis Complex
The paradox of autophagy in Tuberous Sclerosis Complex Open
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by germline mutations in TSC1 or TSC2 genes, which leads to the hyperactivation of the mTORC1 pathway, an important negative regulator of autophagy. This lea…
View article: Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state
Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state Open
Tuberous sclerosis complex (TSC) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in TSC1 or TSC2 genes and characterized by mTORC1 hyperactivation. TSC-associated tumors develop after loss of hetero…
View article: The paradox of autophagy in Tuberous Sclerosis Complex
The paradox of autophagy in Tuberous Sclerosis Complex Open
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by germline mutations in TSC1 or TSC2 genes, which leads to the hyperactivation of the mTORC1 pathway, an important negative regulator of autophagy. This lea…
View article: Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature
Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature Open
Background Tuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagnostic criteria. These criteria do not include gastrointestinal tumors. Case presentation We report a 45-year…
View article: Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1
Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1 Open
Neurofibromatosis type (NF1) is a syndrome characterized by varied symptoms, ranging from mild to more aggressive phenotypes. The variation is not explained only by genetic and epigenetic changes in the NF1 gene and the concept of phenotyp…
View article: Additional file 1 of Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil
Additional file 1 of Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil Open
Additional file 1. Ancestry profile of samples (A) Individual European. African. and Native American ancestry inferred from 61 ancestry-informative markers in our all sample. Patients (green) and controls (orange) were compared with indivi…
View article: The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach
The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach Open
Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5–10% of affected patients, generally encompass NF1 neighb…
View article: Additional file 18: Figure S10. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer
Additional file 18: Figure S10. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer Open
Evaluation of external Array Express datasets. (A) E-MTAB-365, E-GEOD-65216, E-GEOD-12276, E-MTAB-1547, E-GEOD-3494, E-GEOD-4922 and E-GEOD-1456 expression profiles of ESR1, PGR and ERBB2 and bimodal adjustment (green for samples with lowe…
View article: Additional file 13: Table S7. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer
Additional file 13: Table S7. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer Open
Intersection between DE genes from TNBC x non-TNBC tissue, TNBC x normal tissue and TNBC x non-TNBC cell lines (XLS 4979 kb)
View article: Additional file 3: Table S2. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer
Additional file 3: Table S2. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer Open
DE genes between TNBC and non-TNBC tissues (XLS 279 kb)
View article: Additional file 9: Figure S4. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer
Additional file 9: Figure S4. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer Open
Cell lines exhibit the expected ESR, PGR and ERBB2 marker expression status. Linear range of RSEM from ESR1 (upper), PGR1 (middle) and ERBB2 (lower) for the in house and external RNA-Seq datasets. Gray boxes below data indicate the study r…
View article: Additional file 15: Figure S8. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer
Additional file 15: Figure S8. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer Open
Analysis of Infinium HumanMethylation450 BeadChip methylation array from 876 TCGA samples, including TNBC, Non-TNBC and normal tissues. (A) Raw Kernel density plot from β methylation ratios (methylated / total signal) for each category (TN…
View article: Additional file 7: Figure S3. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer
Additional file 7: Figure S3. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer Open
Quality assessment of RNA-Seq data. (A) FastQC [30] plot of the Phred scores of each nucleotide position of all reads before and after Skewer [31] trimming for BT549, MCF7, MDAMB436 and MDAMB468, sequenced at LaCTAD-UNICAMP, and MDAMB231 a…
View article: Additional file 4: Table S3. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer
Additional file 4: Table S3. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer Open
DE genes between TNBC and normal tissues (XLS 2099 kb)
View article: Additional file 5: Figure S2. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer
Additional file 5: Figure S2. of Guanylate-binding protein-1 is a potential new therapeutic target for triple-negative breast cancer Open
Analysis of TNBC versus non-TNBC and TNBC versus normal DE genes from the TCGA samples. Volcano plot of the FC of the genes TNBC versus non-TNBC (A) and TNBC versus normal (B) comparisons. Non-DE (or DE but with a p-value >0.05) genes are …