Categoría: Articulos
-
Five subtypes of common liver disease discovered—including rapidly progressing genetic forms
A liver disease affecting nearly 30% of adults worldwide is not a single illness but five biologically distinct subtypes, Mayo Clinic researchers have found. Each carries different risks for heart disease, liver failure, cancer and the need for liver t…
-
Five subtypes of common liver disease discovered—including rapidly progressing genetic forms
A liver disease affecting nearly 30% of adults worldwide is not a single illness but five biologically distinct subtypes, Mayo Clinic researchers have found. Each carries different risks for heart disease, liver failure, cancer and the need for liver t…
-
New disease gene discovery provides answers to families
Ōtākou Whakaihu Waka researchers have helped identify the cause of a previously unrecognized neurodevelopmental disorder. Dr. Meghan Mulligan, of the Department of Biochemistry, says the finding has given people around the world an answer to the source…
-
New disease gene discovery provides answers to families
Ōtākou Whakaihu Waka researchers have helped identify the cause of a previously unrecognized neurodevelopmental disorder. Dr. Meghan Mulligan, of the Department of Biochemistry, says the finding has given people around the world an answer to the source…
-
Prevalence of <i>BRCA1/2</i> variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
European Journal of Human Genetics, Published online: 03 September 2026; doi:10.1038/s41431-026-02161-3Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
-
Test-retest reliability and associations of strength and functional outcome measures in adults with spinal muscular atrophy
Background Results Conclusions
-
Family cancer burden predicts risk in patients with inflammatory bowel disease
People with inflammatory bowel disease (IBD) who have several close relatives with colorectal cancer are significantly more likely to develop the disease themselves. This is demonstrated by a new Swedish registry study from Karolinska Institutet, publi…
-
Family cancer burden predicts risk in patients with inflammatory bowel disease
People with inflammatory bowel disease (IBD) who have several close relatives with colorectal cancer are significantly more likely to develop the disease themselves. This is demonstrated by a new Swedish registry study from Karolinska Institutet, publi…
-
Influence of homozygosity on genomic structural variation analyses for predicting ACL rupture risk in the Labrador Retriever and Rottweiler
IntroductionAnterior cruciate ligament (ACL) rupture is a common orthopaedic disease in dogs, with varying prevalence and genetic susceptibility across different breeds. Here we investigate the association between genomic structural variation (SV) and …
-
Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA
BackgroundDuchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene. Understanding the carrier frequency and mutation spectrum in specific populations is critical for genetic counseling and early interventi…