Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese
S Zhang, C Mei, D Zhang, B Dai, B Tang… - Nephron Experimental …, 2005 - karger.com
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in two
genes, PKD1 and PKD2. The complexity of these genes, particularly PKD1, has complicated …
genes, PKD1 and PKD2. The complexity of these genes, particularly PKD1, has complicated …
[HTML][HTML] Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)
W Thongnoppakhun, C Limwongse… - BMC Medical …, 2004 - Springer
Background We have previously developed a long RT-PCR method for selective
amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification …
amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification …
Prevalence estimates of polycystic kidney and liver disease by population sequencing
MB Lanktree, A Haghighi, E Guiard… - Journal of the …, 2018 - journals.lww.com
Background Estimating the prevalence of autosomal dominant polycystic kidney disease
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients
RA Perrichot, B Mercier, PM Simon, B Whebe, J Cledes… - Human genetics, 1999 - Springer
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly
inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least …
inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least …
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history
B Reed, K McFann, WJ Kimberling, Y Pei… - American journal of …, 2008 - Elsevier
BACKGROUND: At the University of Colorado Health Sciences Center, on detailed
questioning, approximately 10% of patients with autosomal dominant polycystic kidney …
questioning, approximately 10% of patients with autosomal dominant polycystic kidney …
[HTML][HTML] PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
K Vouk, L Strmecki, J Stekrova, J Reiterova… - BMC medical …, 2006 - Springer
Background Autosomal dominant polycystic kidney disease (ADPKD) is a genetically
heterogeneous disorder caused by mutations in at least two different loci. Prior to performing …
heterogeneous disorder caused by mutations in at least two different loci. Prior to performing …
[HTML][HTML] PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
T Kimura, H Kawano, S Muto, N Muramoto, T Takano… - Biomolecules, 2023 - mdpi.com
Background: Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 in 500–
4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction in …
4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction in …
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families
MH Al-Hamed, N Alsahan, SJ Rice, N Edwards… - Pediatric …, 2019 - Springer
Background Polycystic kidney disease (PKD) is one of the most common genetic renal
diseases and may be inherited in an autosomal dominant or autosomal recessive pattern …
diseases and may be inherited in an autosomal dominant or autosomal recessive pattern …
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
C Bergmann, J von Bothmer, NO Brüchle… - Journal of the …, 2011 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease
caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early …
caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early …
Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease
FJ Gonzalez-Paredes, E Ramos-Trujillo… - Gene, 2014 - Elsevier
Autosomal dominant polycystic kidney disease is the most common human monogenic
disorder and is caused by mutations in the PKD1 or PKD2 genes. Most patients with the …
disorder and is caused by mutations in the PKD1 or PKD2 genes. Most patients with the …