Spinocerebellar ataxia: an update
R Sullivan, WY Yau, E O'Connor, H Houlden - Journal of neurology, 2019 - Springer
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing
The advent of next-generation sequencing technologies has greatly promoted advances in
the study of human diseases at the genomic, transcriptomic, and epigenetic levels. Exome …
the study of human diseases at the genomic, transcriptomic, and epigenetic levels. Exome …
The genomic landscape of 2,023 colorectal cancers
Colorectal carcinoma (CRC) is a common cause of mortality, but a comprehensive
description of its genomic landscape is lacking,,,,,,–. Here we perform whole-genome …
description of its genomic landscape is lacking,,,,,,–. Here we perform whole-genome …
Mutational signature in colorectal cancer caused by genotoxic pks+E. coli
C Pleguezuelos-Manzano, J Puschhof… - Nature, 2020 - nature.com
Various species of the intestinal microbiota have been associated with the development of
colorectal cancer,, but it has not been demonstrated that bacteria have a direct role in the …
colorectal cancer,, but it has not been demonstrated that bacteria have a direct role in the …
Homozygous BCMA gene deletion in response to anti-BCMA CAR T cells in a patient with multiple myeloma
MC Da Vià, O Dietrich, M Truger, P Arampatzi, J Duell… - Nature medicine, 2021 - nature.com
B cell maturation antigen (BCMA) is a target for various immunotherapies and a biomarker
for tumor load in multiple myeloma (MM). We report a case of irreversible BCMA loss in a …
for tumor load in multiple myeloma (MM). We report a case of irreversible BCMA loss in a …
[HTML][HTML] Genomic hallmarks and structural variation in metastatic prostate cancer
While mutations affecting protein-coding regions have been examined across many
cancers, structural variants at the genome-wide level are still poorly defined. Through …
cancers, structural variants at the genome-wide level are still poorly defined. Through …
Lactate buildup at the site of chronic inflammation promotes disease by inducing CD4+ T cell metabolic rewiring
Accumulation of lactate in the tissue microenvironment is a feature of both inflammatory
disease and cancer. Here, we assess the response of immune cells to lactate in the context …
disease and cancer. Here, we assess the response of immune cells to lactate in the context …
In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni
Several CRISPR-Cas9 orthologues have been used for genome editing. Here, we present
the smallest Cas9 orthologue characterized to date, derived from Campylobacter jejuni …
the smallest Cas9 orthologue characterized to date, derived from Campylobacter jejuni …
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas
AS Guerreiro Stucklin, S Ryall, K Fukuoka… - Nature …, 2019 - nature.com
Infant gliomas have paradoxical clinical behavior compared to those in children and adults:
low-grade tumors have a higher mortality rate, while high-grade tumors have a better …
low-grade tumors have a higher mortality rate, while high-grade tumors have a better …