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View article: A Family with Meester–Loeys Syndrome Caused by a Novel Missense Variant in the BGN Gene
A Family with Meester–Loeys Syndrome Caused by a Novel Missense Variant in the BGN Gene Open
Meester–Loeys syndrome (MLS) is an X-linked connective tissue disorder caused by pathogenic BGN variants. We describe a family carrying a novel missense variant. The index male, initially diagnosed with Ehlers–Danlos syndrome, had joint hy…
View article: Integration of Dose Surface Maps and Genetic Data Identifies the Lower Posterior Rectum as a Key Region for Toxicity after Prostate Cancer Radiotherapy
Integration of Dose Surface Maps and Genetic Data Identifies the Lower Posterior Rectum as a Key Region for Toxicity after Prostate Cancer Radiotherapy Open
Purpose: Genome-wide association studies are the gold standard for identifying SNP associated with rectal toxicity after prostate cancer radiotherapy. However, they often neglect the radiotherapy dose distribution, which is a key contribut…
View article: Sensitivity analysis of dose-response model parameters for the bladder in prostate cancer radiotherapy
Sensitivity analysis of dose-response model parameters for the bladder in prostate cancer radiotherapy Open
Parameter selection significantly influences high-risk subregion identification in DRMs, emphasizing the need for standardized parameter reporting for meaningful external comparisons.
View article: On Pragmatics Functions of Hacer de Cuenta: A Study of Its Development in the 20th and 21st Centuries in Mexican Spanish
On Pragmatics Functions of Hacer de Cuenta: A Study of Its Development in the 20th and 21st Centuries in Mexican Spanish Open
In the Hispanic world, the analysis of discourse particles from a microdiachronic perspective has emerged as a relatively recent area of research that has already demonstrated its efficacy, particularly in the context of Spain. However, in…
View article: Dose-response mapping of bladder and rectum in prostate cancer patients undergoing radiotherapy with and without baseline toxicity correction
Dose-response mapping of bladder and rectum in prostate cancer patients undergoing radiotherapy with and without baseline toxicity correction Open
DRM without baseline correction appears more sensitive to high-risk subregions due to higher event counts. Non-linear toxicity grading and multivariable analysis may enhance DRM reliability.
View article: The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation Open
Background As clinical genetics evolves towards the broader field of clinical genomics, the diagnostic approach to rare diseases is undergoing a paradigm shift. This transformation has significantly impacted rare disease diagnostics, incre…
View article: Supplementary Table S3 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
Supplementary Table S3 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Table S3 shows bivariate associations of patient, cancer, and treatment factors with hematuria
View article: Supplementary Table S1 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
Supplementary Table S1 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Table S1 lists the SNVs included in the PRS
View article: Supplementary Figure S1 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
Supplementary Figure S1 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Figure S1 shows principal components analysis of participants from the RGC and REQUITE+URWCI cohorts.
View article: Supplementary Figure S3 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
Supplementary Figure S3 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Figure S3 shows a Manhattan plot from the GWAS
View article: Supplementary Table S4 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
Supplementary Table S4 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Table S4 shows a multivariable model of hematuria including the PRS, rare variants, and clinical factors
View article: Supplementary Figure S2 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
Supplementary Figure S2 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Figure S2 shows a quantile-quantile plot from the GWAS
View article: Data from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
Data from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Background:Late bladder toxicity is a concern for patients receiving prostate cancer radiotherapy and negatively affects survivors. Few risk factors are known beyond the radiation dose and volume of bladder exposed. A polygenic risk score …
View article: Supplementary Table S2 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
Supplementary Table S2 from A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Table S2 shows the association of known prognostic factors with time to biochemical recurrence
View article: Osteomesopyknosis: A Bone-Sclerosing Disorder that May be Confused with Bone Metastases
Osteomesopyknosis: A Bone-Sclerosing Disorder that May be Confused with Bone Metastases Open
Sclerosing bone disorders encompass a range of genetic and acquired diseases. The potential for bone metastases is often a significant concern, especially when multiple discrete lesions are present. Several non-malignant disorders can also…
View article: Epigenome-wide analysis reveals potential biomarkers for radiation-induced toxicity risk in prostate cancer
Epigenome-wide analysis reveals potential biomarkers for radiation-induced toxicity risk in prostate cancer Open
Epigenetic biomarkers show potential for predicting severe long-term adverse effects of RT in prostate cancer patients. The identified methylation patterns provide valuable insights into toxicity mechanisms and may aid personalized treatme…
View article: A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer Open
Background: Late bladder toxicity is a concern for patients receiving prostate cancer radiotherapy and negatively affects survivors. Few risk factors are known beyond the radiation dose and volume of bladder exposed. A polygenic risk score…
View article: Association of radiation-induced normal tissue toxicity with a high genetic risk for rheumatoid arthritis
Association of radiation-induced normal tissue toxicity with a high genetic risk for rheumatoid arthritis Open
Background Overlapping genes are involved with rheumatoid arthritis (RA) and DNA repair pathways. Therefore, we hypothesized that patients with a high polygenic risk score for RA will have an increased risk of radiotherapy toxicity given t…
View article: New rectum dose surface mapping methodology to identify rectal subregions associated with toxicities following prostate cancer radiotherapy
New rectum dose surface mapping methodology to identify rectal subregions associated with toxicities following prostate cancer radiotherapy Open
We developed a methodology that unfolds the rectum to a 2D surface map. The lower posterior was significant for clinician-reported proctitis and patient-reported bowel urgency, suggesting that reducing the dose in the region could decrease…
View article: Intrinsic Heterogeneity of Primary Cilia Revealed Through Spatial Proteomics
Intrinsic Heterogeneity of Primary Cilia Revealed Through Spatial Proteomics Open
Summary Primary cilia are a critical organelle found on most human cells, and their dysfunction is linked to hereditary ciliopathies with a wide phenotypic spectrum. Despite their significance, the specific roles of cilia in different cell…
View article: Worms love Coffee too! Characterizing the neural substrates that regulate odor-guided responses to coffee
Worms love Coffee too! Characterizing the neural substrates that regulate odor-guided responses to coffee Open
The coffee industry reaches over 80 billion US dollars in revenue partially due to the numerous chemicals that allow for coffee's highly attractive aroma and overall flavor. Many people integrate coffee into their everyday routine; therefo…