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Mechanistic complement of autosomal dominant polycystic kidney disease: the role of aquaporins
Autosomal dominant polycystic kidney disease is a genetic kidney disease caused by mutations in the genes PKD1 or PKD2. Its course is characterized...
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Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease
Adult kidney organoids have been described as strictly tubular epithelia and termed tubuloids. While the cellular origin of tubuloids has remained...
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OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing...
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PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan
Autosomal Dominant polycystic kidney disease (ADPKD) is the most common inherited adult kidney disease. Although ADPKD is primarily caused by PKD1 ...
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Prioritized polycystic kidney disease drug targets and repurposing candidates from pre-cystic and cystic mouse Pkd2 model gene expression reversion
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent monogenic human diseases. It is mostly caused by...
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Autosomal dominant polycystic kidney disease and pioglitazone for its therapy: a comprehensive review with an emphasis on the molecular pathogenesis and pharmacological aspects
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited chronic kidney disorder (CKD) that is characterized by the development of...
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Renal plasticity revealed through reversal of polycystic kidney disease in mice
Initiation of cyst formation in autosomal dominant polycystic kidney disease (ADPKD) occurs when kidney tubule cells are rendered null for either PKD1 ...
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Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
PurposeAutosomal dominant polycystic kidney disease (ADPKD) represents the most common hereditary nephropathy. Despite growing evidence for genetic...
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The genetic landscape of polycystic kidney disease in Ireland
Polycystic kidney diseases (PKDs) comprise the most common Mendelian forms of renal disease. It is characterised by the development of fluid-filled...
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KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
AbstractGenetic testing in patients with suspected hereditary kidney disease may not reveal the genetic cause for the disorder as potentially...
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Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is common, with a prevalence of 1/1000 and predominantly caused by disease-causing variants in PKD1...
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Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study
Hereditary chronic kidney disease (CKD) appears to be more frequent than the clinical perception. Exome sequencing (ES) studies in CKD cohorts could...
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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
BackgroundLong-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible...
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End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy
Autosomal dominant polycystic kidney disease (ADPKD) is commonly caused by PKD1 , and mosaic PKD1 variants result in milder phenotypes. We present the...
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UMOD and the architecture of kidney disease
The identification of genetic factors associated with the risk, onset, and progression of kidney disease has the potential to provide mechanistic...
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Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population
Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This study is aimed that the...
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Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
BackgroundPeople with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of...
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The Polycystins and Polycystic Kidney Disease
The polycystins are transmembrane proteins that interact to form a nonselective, Ca2+ permeable, cation channel that is thought to be involved in the...