Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …
Personalized medicine in chronic kidney disease by detection of monogenic mutations
DM Connaughton, F Hildebrandt - Nephrology Dialysis …, 2020 - academic.oup.com
A large fraction of early-onset chronic kidney disease (CKD) is known to be monogenic in
origin. To date,∼ 450 monogenic (synonymous with single-gene disorders) genes, if …
origin. To date,∼ 450 monogenic (synonymous with single-gene disorders) genes, if …
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
N Knoers, C Antignac, C Bergmann… - Nephrology Dialysis …, 2022 - academic.oup.com
The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …
Single cell census of human kidney organoids shows reproducibility and diminished off-target cells after transplantation
Human iPSC-derived kidney organoids have the potential to revolutionize discovery, but
assessing their consistency and reproducibility across iPSC lines, and reducing the …
assessing their consistency and reproducibility across iPSC lines, and reducing the …
Small molecule targets TMED9 and promotes lysosomal degradation to reverse proteinopathy
M Dvela-Levitt, M Kost-Alimova, M Emani, E Kohnert… - Cell, 2019 - cell.com
Intracellular accumulation of misfolded proteins causes toxic proteinopathies, diseases
without targeted therapies. Mucin 1 kidney disease (MKD) results from a frameshift mutation …
without targeted therapies. Mucin 1 kidney disease (MKD) results from a frameshift mutation …
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized
cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The …
cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The …
Rare genetic causes of complex kidney and urological diseases
Although often considered a single-entity, chronic kidney disease (CKD) comprises many
pathophysiologically distinct disorders that result in persistently abnormal kidney structure …
pathophysiologically distinct disorders that result in persistently abnormal kidney structure …
[HTML][HTML] The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project
EAE Elhassan, SL Murray, DM Connaughton… - Journal of …, 2022 - Springer
Methods In this prospective cohort study, we undertook genetic testing in adults with
suspected GKD according to prespecified criteria. Over 7 years, patients were referred from …
suspected GKD according to prespecified criteria. Over 7 years, patients were referred from …
An evolutionary perspective on the impact of genomic copy number variation on human health
M Saitou, O Gokcumen - Journal of molecular evolution, 2020 - Springer
Copy number variants (CNVs), deletions and duplications of segments of DNA, account for
at least five times more variable base pairs in humans than single-nucleotide variants …
at least five times more variable base pairs in humans than single-nucleotide variants …
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we
describe five families found to have autosomal dominant medullary amyloidosis due to two …
describe five families found to have autosomal dominant medullary amyloidosis due to two …