Settara C. Chandrasekharappa
YOU?
Author Swipe
View article: G-quadruplexes as a source of vulnerability in BRCA2 <i>-</i> deficient granule cell progenitors and medulloblastoma
G-quadruplexes as a source of vulnerability in BRCA2 <i>-</i> deficient granule cell progenitors and medulloblastoma Open
Biallelic pathogenic variants in the essential DNA repair gene BRCA2 cause Fanconi anemia complementation group D1. Patients in this group are highly prone to develop embryonal tumors, most commonly medulloblastoma arising from the cerebel…
View article: Polygenic Risk Scores and HLA Class II Variants are Biomarkers of Corticosteroid Response in Childhood Nephrotic Syndrome
Polygenic Risk Scores and HLA Class II Variants are Biomarkers of Corticosteroid Response in Childhood Nephrotic Syndrome Open
Introduction Nephrotic syndrome (NS), a common glomerular disease in children, is classified based on response to corticosteroid therapy as either steroid-sensitive nephrotic syndrome (SSNS), or steroid-resistant nephrotic syndrome (SRNS).…
View article: Loss of SLX4IP leads to common fragile site instability and compromises DNA interstrand crosslink repair in vivo
Loss of SLX4IP leads to common fragile site instability and compromises DNA interstrand crosslink repair in vivo Open
Common fragile sites (CFSs) are chromosomal loci with inherent characteristics that make them difficult to fully replicate thus rendering them vulnerable to replication stress (RS). Under-replicated CFSs manifest as cytogenetic gaps and br…
View article: Persistent immune dysregulation and metabolic alterations following SARS-CoV-2 infection
Persistent immune dysregulation and metabolic alterations following SARS-CoV-2 infection Open
SARS-CoV-2 can cause a variety of post-acute sequelae including Long COVID19 (LC), a complex, multisystem disease characterized by a broad range of symptoms including fatigue, cognitive impairment, and post-exertional malaise. The pathogen…
View article: Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex
Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex Open
The Fanconi anemia/breast cancer (FA/BRCA) DNA repair network promotes the removal of DNA interstrand crosslinks (ICLs) to counteract their devastating consequences, including oncogenesis. Network signaling is initiated by the FA core comp…
View article: G-quadruplexes are a source of vulnerability in<i>BRCA2</i>deficient granule cell progenitors and medulloblastoma
G-quadruplexes are a source of vulnerability in<i>BRCA2</i>deficient granule cell progenitors and medulloblastoma Open
Biallelic pathogenic variants in the essential DNA repair gene BRCA2 causes Fanconi anemia, complementation group FA-D1. Patients in this group are highly prone to develop embryonal tumors, most commonly medulloblastoma arising from the ce…
View article: <i>FANCA</i> c.3624C&gt;T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
<i>FANCA</i> c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia Open
Fanconi anemia (FA) is a hereditary, DNA repair deficiency disorder caused by pathogenic variants in any 1 of 22 known genes (FANCA-FANCW). Variants in FANCA account for nearly two-thirds of all patients with FA. Clinical presentation of F…
View article: Genomic landscape of patients with germline <i>RUNX1</i> variants and familial platelet disorder with myeloid malignancy
Genomic landscape of patients with germline <i>RUNX1</i> variants and familial platelet disorder with myeloid malignancy Open
Familial platelet disorder with associated myeloid malignancies (FPDMM) is caused by germline RUNX1 mutations and characterized by thrombocytopenia and increased risk of hematologic malignancies. We recently launched a longitudinal natural…
View article: A novel de novo <i>TP63</i> mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly
A novel de novo <i>TP63</i> mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly Open
Background Oral clefts and ectrodactyly are common, heterogeneous birth defects. We performed whole‐exome sequencing (WES) analysis in a Syrian family. The proband presented with both orofacial clefting and ectrodactyly but not ectodermal …
View article: Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia
Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia Open
Fanconi anemia (FA) is a rare genetic disease characterized by heterogeneous congenital abnormalities and increased risk for bone marrow failure and cancer. FA is caused by mutation of any one of 23 genes, the protein products of which fun…
View article: Data from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes
Data from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes Open
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized primarily by endocrine tumors of the parathyroids, anterior pituitary, and enteropancreatic endocrine tissues. Affected individuals …
View article: Data from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes
Data from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes Open
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized primarily by endocrine tumors of the parathyroids, anterior pituitary, and enteropancreatic endocrine tissues. Affected individuals …
View article: Supplementary Table S1 from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes
Supplementary Table S1 from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes Open
Supplementary Table S1 from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes
View article: Supplementary Table S1 from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes
Supplementary Table S1 from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes Open
Supplementary Table S1 from Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes
View article: Data from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization
Data from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization Open
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder associated mainly with tumors of multiple endocrine organs. Mutations in the MEN1 gene that encodes for the menin protein are the predominant cause for her…
View article: Supplementary Figure Legends 1-2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Figure Legends 1-2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Figure Legends 1-2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Supplementary Figure 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Figure 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Figure 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Supplementary Figure Legends 1-2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Figure Legends 1-2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Figure Legends 1-2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Supplementary Table 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Table 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Table 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Data from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Data from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Genomic aberrations on chromosome 8 are common in colon cancer, and are associated with lymph node and distant metastases as well as with disease susceptibility. This prompted us to generate a high-resolution map of genomic imbalances of c…
View article: Supplementary Figure 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Figure 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Figure 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Data from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Data from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Genomic aberrations on chromosome 8 are common in colon cancer, and are associated with lymph node and distant metastases as well as with disease susceptibility. This prompted us to generate a high-resolution map of genomic imbalances of c…
View article: Supplementary Table 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Table 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Table 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Supplementary Figure 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Figure 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Figure 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Data from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization
Data from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization Open
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder associated mainly with tumors of multiple endocrine organs. Mutations in the MEN1 gene that encodes for the menin protein are the predominant cause for her…
View article: Supplementary Figures 1-4 from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization
Supplementary Figures 1-4 from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization Open
Supplementary Figures 1-4 from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization
View article: Supplementary Figures 1-4 from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization
Supplementary Figures 1-4 from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization Open
Supplementary Figures 1-4 from The Tumor Suppressor Protein Menin Inhibits AKT Activation by Regulating Its Cellular Localization
View article: Supplementary Table 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Table 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Table 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Supplementary Figure 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Figure 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Figure 2 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
View article: Supplementary Table 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome
Supplementary Table 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome Open
Supplementary Table 1 from Chromosomal Breakpoints in Primary Colon Cancer Cluster at Sites of Structural Variants in the Genome