Article
Respiratory System
Runming Wang, Wenya Li, Haiting Dai, Mingli Zhu, Lingyu Li, Guohui Si, Yilina Bai, Hanyu Wu, Xiaoxiang Hu, Yiming Xing
Summary: Background: Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent genetic disorder characterized by the development of renal cysts. This study investigates the relationship between ADPKD and bronchiectasis in a PKD1(+/-) pig model. Methods: The study assesses phenotypic changes in airway epithelial and mesenchymal cells in PKD1(+/-) pigs and explores the molecular mechanisms underlying these changes using PKD1(+/-) pig lungs, human mesenchymal cells, and PKD1 deficient human epithelial cells. Result: The study identifies bronchiectasis in PKD1(+/-) pigs, consistent with clinical symptoms in ADPKD patients. The deficiency of PKD1 disrupts the airway epithelial barrier, leading to an inflammatory response and airway smooth muscle cell remodeling, ultimately resulting in bronchiectasis. Conclusion: This study provides important insights into the pathogenesis of bronchiectasis in ADPKD and highlights PKD1 as a potential target for diagnosis and treatment strategies.
RESPIRATORY RESEARCH
(2022)
Article
Genetics & Heredity
Runming Wang, Wenya Li, Suhong Zhang, Ya Song, Haiting Dai, Tan Tan, Xiaoxiang Hu, Yiming Xing
Summary: This study investigated the mechanisms of apoptosis in driving cystogenesis using PKD1-deficient pigs and PKD1-knockdown pig kidney epithelial cells. The results indicated that intrinsic apoptosis played important roles in cystogenesis, suggesting a potential new strategy for the diagnosis and treatment of autosomal dominant polycystic kidney disease (ADPKD) by targeting intrinsic apoptosis.
Article
Biochemistry & Molecular Biology
Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie
Summary: This study investigated the prognostic utility of genetic mutations in predicting renal function outcomes in Japanese patients with autosomal dominant polycystic kidney disease (ADPKD). The results showed that PKD1 mutation is a biomarker for predicting renal prognosis in ADPKD patients.
Article
Genetics & Heredity
Jonathan de Fallois, Ria Schoenauer, Johannes Muench, Mato Nagel, Bernt Popp, Jan Halbritter
Summary: This study reports three young adults with atypical genetic alterations associated with microcystic-hyperechogenic kidneys. These findings suggest that PKD gene mutations may lead to varying clinical presentations of kidney diseases.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Peiwen Xu, Lijuan Wang, Jing Li, Sexin Huang, Ming Gao, Ranran Kang, Jie Li, Hongqiang Xie, Xiaowei Liu, Junhao Yan, Xuan Gao, Yuan Gao
Summary: This study reported a case of ADPKD caused by a balanced translocation, and assisted the patient in delivering a healthy baby through genetic diagnosis. When WES analysis is negative, chromosomal structural analysis is recommended for further genetic diagnosis.
BMC MEDICAL GENOMICS
(2023)
Article
Genetics & Heredity
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic cause of kidney failure, and rare severe presentations are associated with reduced gene dosage. We identified biallelic PKD1 variants using next-generation sequencing in two unrelated individuals with early onset cystic kidney disease. Our analysis of literature estimated a minimal allele frequency of 1/130 for PKD1 hypomorphic variants. This information could guide genetic counseling, but the clinical impact of rare and previously unreported PKD1 missense variants remains challenging.
Article
Cell Biology
Shunlai Shang, Chao Wang, Lang Chen, Wanjun Shen, Yuansheng Xie, Wenge Li, Qinggang Li
Summary: In this study, a genetic detection system was established to improve the diagnosis accuracy of ADPKD. Different methods, including NGS, MLPA, targeted region sequencing, and Sanger sequencing, were combined to detect pathogenic genes. Several new mutations were identified.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Genetics & Heredity
Yasuo Suzuki, Kan Katayama, Ryosuke Saiki, Yosuke Hirabayashi, Tomohiro Murata, Eiji Ishikawa, Masaaki Ito, Kaoru Dohi
Summary: This study analyzed the genes of 50 ADPKD patients and identified mutations in PKD1, PKD2, and GANAB genes, which can assist in diagnosis and treatment of the disease.
Article
Biotechnology & Applied Microbiology
Cuiting Peng, Han Chen, Jun Ren, Fan Zhou, Yutong Li, Yuezhi Keqie, Taoli Ding, Jiangxing Ruan, He Wang, Xinlian Chen, Shanling Liu
Summary: The study successfully established a PGT-M strategy based on long-read sequencing for direct haplotyping, which proved effective in preventing the transmission of pathogenic mutations in polycystic kidney disease and other monogenic diseases.
Article
Genetics & Heredity
Michaela Drogemuller, Nadine Klein, Rikke Lill Steffensen, Miriam Keiner, Vidhya Jagannathan, Tosso Leeb
Summary: A female Lagotto Romagnolo dog and her offspring with polycystic kidney disease (PKD) were studied. The affected dogs showed no clinical symptoms but had renal cysts detected by sonography. Whole genome sequencing analysis revealed a de novo heterozygous nonsense variant in the PKD1 gene, which is predicted to truncate the wild-type PKD1 protein. The finding suggests that this mutation is the cause of PKD in the affected dogs and may serve as an animal model for similar diseases in humans.
Article
Medicine, General & Internal
Romina Bucci, Francesca Tunesi, Liliana Italia De Rosa, Paola Carrera, Giulia Mancassola, Martina Catania, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi
Summary: This case presents a 41-year-old male patient diagnosed with a solitary left kidney with a few cysts. Genetic testing revealed a heterozygous nucleotide variant in the PKD1 gene, but no gene mutations implicated in unilateral renal agenesis. Global records show only eight cases of autosomal dominant polycystic kidney disease (ADPKD) with one kidney. Further research is needed to understand the crucial significance of cilia in many diseases.
CLINICAL CASE REPORTS
(2023)
Article
Genetics & Heredity
Ludovico Graziani, Stefania Zampatti, Miriam Lucia Carriero, Chiara Minotti, Cristina Peconi, Mario Bengala, Emiliano Giardina, Giuseppe Novelli
Summary: This study describes a family with ADPKD in which the proband had an earlier and more severe renal phenotype compared to other affected family members. NGS-based analysis identified pathogenic variants in PKD1 and PKD2 in the proband, suggesting that the co-inheritance of multiple PKD genes may explain the phenotypic variability observed in ADPKD families.
Article
Genetics & Heredity
Hao Shi, Wenbin Niu, Yidong Liu, Haixia Jin, Wenyan Song, Senlin Shi, Guidong Yao, Jiawei Xu, Yingpu Sun
Summary: The new PGT-M strategy of using single sperm SNP linkage analysis has been shown to be feasible and effective for male patients with ADPKD caused by de novo PKD1 mutation.
Article
Urology & Nephrology
Miriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, Giancarlo Blasio, Annalaura Torella, Andrea Melluso, Giovanna Capolongo, Rosa Maria Pollastro, Giulio Piluso, Valentina Di Iorio, Francesca Simonelli, Davide Viggiano, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso
Summary: Genetic testing of patients with inherited kidney diseases has become a clinical tool for improving diagnosis, prognosis, surveillance, and therapy. The study applied a NGS-based panel to test 115 genes causing renal diseases in 119 individuals, showing the potential of genetic panels to provide useful information at both clinical and epidemiological levels.
JOURNAL OF NEPHROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Seonju Choi, Do Yeon Kim, Yejin Ahn, Eun Ji Lee, Jong Hoon Park
Summary: The study demonstrates a novel mechanism involving miR-132-3p, Foxo3, and Gatm that is associated with oxidative stress during cystogenesis in ADPKD.
BIOMOLECULES & THERAPEUTICS
(2021)
Article
Neurosciences
Yi-Fang Tu, Si-Tse Jiang, Yen-Hung Chow, Chao-Ching Huang, Chien-Jung Ho, Ya-Ping Chou
MOLECULAR NEUROBIOLOGY
(2016)
Article
Multidisciplinary Sciences
Huey-Wen Hsiao, Tzu-Sheng Hsu, Wen-Hsien Liu, Wan-Chen Hsieh, Ting-Fang Chou, Yu-Jung Wu, Si-Tse Jiang, Ming-Zong Lai
NATURE COMMUNICATIONS
(2015)
Article
Neurosciences
Yen-Ting Lai, Chun-Kuei Su, Si-Tse Jiang, Ya-Jen Chang, Alan Chuan-Ying Lai, Yi-Shuian Huang
JOURNAL OF NEUROSCIENCE
(2016)
Article
Biochemistry & Molecular Biology
Chin-Chih Liu, Yu-Ching Lin, Yu-Hsuan Chen, Chun-Ming Chen, Liang-Yu Pang, Hsuan-An Chen, Pei-Rung Wu, Mei-Yao Lin, Si-Tse Jiang, Ting-Fen Tsai, Ruey-Hwa Chen
Article
Multidisciplinary Sciences
Yu-Ling Chen, Yi-Ting Chen, Cheng-Feng Lo, Ching-I Hsieh, Shang-Yi Chiu, Chang-Yen Wu, Yu-Shan Yeh, Shu-Hsuan Hung, Po-Hao Cheng, Yu-Hsuan Su, Si-Tse Jiang, Hsian-Jean Chin, Yu-Chia Su
SCIENTIFIC REPORTS
(2016)
Article
Urology & Nephrology
Ellian Wang, Yuan-Yow Chiou, Wen-Yih Jeng, Hsiu-Kuan Lin, Hsi-Hui Lin, Hsian-Jean Chin, Chi-Kuang Leo Wang, Shang-Shiuan Yu, Shih-Chieh Tsai, Chih-Ying Chiang, Po-Hao Cheng, Hong-Jie Lin, Si-Tse Jiang, Sou-Tyau Chiu, Hsiu Mei Hsieh-Li
KIDNEY INTERNATIONAL
(2017)
Article
Multidisciplinary Sciences
Chung-Hsing Chang, Che-Jung Kuo, Takamichi Ito, Yu-Ya Su, Si-Tse Jiang, Min-Hsi Chiu, Yi-Hsiung Lin, Andrea Nist, Marco Mernberger, Thorsten Stiewe, Shosuke Ito, Kazumasa Wakamatsu, Yi-An Hsueh, Sheau-Yann Shieh, Irit Snir-Alkalay, Yinon Ben-Neriah
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2017)
Article
Reproductive Biology
Yu Chien, Wei-Cheng Cheng, Menq-Rong Wu, Si-Tse Jiang, Che-Kun James Shen, Bon-chu Chung
BIOLOGY OF REPRODUCTION
(2013)
Article
Hematology
Yu-Hsun Lo, Yu-Wen Huang, Yung-Hsuan Wu, Chi-Shan Tsai, Yu-Chuan Lin, Shu-Ting Mo, Wen-Chih Kuo, Ya-Ting Chuang, Si-Tse Jiang, Hsiu-Ming Shih, Ming-Zong Lai
Article
Biochemistry & Molecular Biology
Y-H Wu, W-C Kuo, Y-J Wu, K-T Yang, S-T Chen, S-T Jiang, C. Gordy, Y-W He, M-Z Lai
CELL DEATH AND DIFFERENTIATION
(2014)
Article
Immunology
Yae-Huei Liou, Szu-Wen Wang, Chin-Ling Chang, Po-Lin Huang, Mau-Sheng Hou, Yein-Gei Lai, Gilbert Aaron Lee, Si-Tse Jiang, Ching-Yen Tsai, Nan-Shih Liao
JOURNAL OF IMMUNOLOGY
(2014)
Article
Oncology
Shang-Shiuan Yu, Ellian Wang, Chih-Ying Chiang, Po-Hao Cheng, Yu-Shan Yeh, Ying-Ying Wu, Yuan-Yow Chiou, Si-Tse Jiang
Summary: The deficiency of Wdr19 leads to the abrogation of primary cilia and the formation of renal cysts. Wdr19 is primarily involved in retrograde intraflagellar transport (IFT) and is crucial for the construction of critical primary cilia structures during kidney development.
JOURNAL OF PATHOLOGY
(2022)
Article
Cell Biology
Hsin-Yin Chuang, Wen-Yih Jeng, Ellian Wang, Si-Tse Jiang, Chen-Ming Hsu, Hsiu Mei Hsieh-Li, Yuan-Yow Chiou
Summary: PKD is a common inherited disease characterized by fluid-filled cysts, and studying the mechanisms of NGAL on cysts can provide insights for future clinical treatments.
Article
Cell Biology
Yi-Chao Hsu, Yu-Fen Chung, Mei-Shu Chen, Chi-Kuang Wang, Si-Tse Jiang, Ing-Ming Chiu
Summary: The F1A-CreER(T2) mouse line, driven by the Fgf1A promoter, can be used for time-dependent and lineage tracing of Fgf1A-expressing cells in vivo.
Article
Cell Biology
Yu-Shuo Wu, Chien-Chang Chen, Chen-Li Chien, Hsing-Lin Lai, Si-Tse Jiang, Yong-Cyuan Chen, Lin-Ping Lai, Wei-Fan Hsiao, Wen-Pin Chen, Yijuang Chern
JOURNAL OF BIOMEDICAL SCIENCE
(2017)