Esra Dikoglu
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View article: Predictors of response to neoadjuvant chemo-immunotherapy in metaplastic triple-negative breast cancer
Predictors of response to neoadjuvant chemo-immunotherapy in metaplastic triple-negative breast cancer Open
Metaplastic breast cancer (MpBC) treated with standard chemotherapy has low rates of complete pathological response (pCR)(2–23%). In this study, we evaluate the response to neoadjuvant chemo-immunotherapy (NACI) in early-stage MpBC. Thirty…
View article: Evidence of SARS-CoV-2-Specific T-Cell-Mediated Myocarditis in a MIS-A Case
Evidence of SARS-CoV-2-Specific T-Cell-Mediated Myocarditis in a MIS-A Case Open
A 26-year-old otherwise healthy man died of fulminant myocarditis. Nasopharyngeal specimens collected premortem tested negative for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Histopathological evaluation of the heart sho…
View article: Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors—A Cohort Study
Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors—A Cohort Study Open
Familial non-medullary thyroid cancer (FNMTC) is a form of endocrine malignancy exhibiting an autosomal dominant mode of inheritance with largely unknown germline molecular mechanism. Hereditary nonpolyposis colorectal cancer syndrome (HNP…
View article: Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a <i>BRAF</i>-mutant pancreatic adenocarcinoma
Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a <i>BRAF</i>-mutant pancreatic adenocarcinoma Open
The tumor genome of a patient with advanced pancreatic cancer was sequenced to identify potential therapeutic targetable mutations after standard of care failed to produce any significant overall response. Matched tumor-normal whole-genome…
View article: Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments
Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments Open
Following publication of the original article [1], it was reported that the given name of the fourteenth author was incorrectly published. The incorrect and the correct names are given below.
View article: Sequencing and curation strategies for identifying candidate glioblastoma treatments
Sequencing and curation strategies for identifying candidate glioblastoma treatments Open
These results present the first comprehensive comparison of technical and machine augmented analysis of targeted panel and WGS/RNA-seq to identify potential cancer treatments.
View article: Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease Open
Our study showed that Pyle's disease was caused by a deficiency of sFRP4, that cortical-bone and trabecular-bone homeostasis were governed by different mechanisms, and that sFRP4-mediated cross-regulation between Wnt and BMP signaling was …
View article: <i>PYCR2</i>Mutations cause a lethal syndrome of microcephaly and failure to thrive
<i>PYCR2</i>Mutations cause a lethal syndrome of microcephaly and failure to thrive Open
Objective A study was undertaken to characterize the clinical features of the newly described hypomyelinating leukodystrophy type 10 with microcephaly. This is an autosomal recessive disorder mapped to chromosome 1q42.12 due to mutations i…
View article: Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene
Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene Open
Galloway–Mowat syndrome is a rare autosomal‐recessive disorder classically described as the combination of microcephaly and nephrotic syndrome. Recently, homozygous truncating mutations in WDR73 ( WD repeat domain 73 ) were described in tw…