Cargando…

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently inherited renal diseases caused by mutations in PKD1 and PKD2. We performed mutational analyses of PKD genes in 49 unrelated patients using direct PCR-sequencing and multiplex ligation-dependent probe amplification (M...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Bei, Chen, Song-Chang, Yang, Yan-Mei, Yan, Kai, Qian, Ye-Qing, Zhang, Jun-Yu, Hu, Yu-Ting, Dong, Min-Yue, Jin, Fan, Huang, He-Feng, Xu, Chen-Ming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668380/ https://www.ncbi.nlm.nih.gov/pubmed/26632257 http://dx.doi.org/10.1038/srep17468

Ejemplares similares

Corrigendum: Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease
por: Liu, Bei, et al.
Publicado: (2016)

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
por: Vouk, Katja, et al.
Publicado: (2006)

Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease
por: Choi, Rihwa, et al.
Publicado: (2014)

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
por: Kimura, Tomoki, et al.
Publicado: (2023)

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations
por: Kataoka, Hiroshi, et al.
Publicado: (2020)

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
por: Obeidova, Lena, et al.
Publicado: (2014)

Novel method for the genomic analysis of PKD1 mutation in autosomal dominant polycystic kidney disease
por: Shang, Shunlai, et al.
Publicado: (2023)

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing
por: Trujillano, Daniel, et al.
Publicado: (2014)

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
por: Carrera, Paola, et al.
Publicado: (2016)

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
por: Stekrova, Jitka, et al.
Publicado: (2009)

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
por: Jamshidi, Javad, et al.
Publicado: (2016)

Differential Expression of PKD2-Associated Genes in Autosomal Dominant Polycystic Kidney Disease
por: Yook, Yeon Joo, et al.
Publicado: (2012)

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction
por: He, Wen-Bin, et al.
Publicado: (2018)

Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene
por: Pandita, S., et al.
Publicado: (2018)

Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease
por: Tsukiyama, Tomoyuki, et al.
Publicado: (2019)

Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease
por: Hafizi, Atousa, et al.
Publicado: (2014)

Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
por: Gulati, Ashima, et al.
Publicado: (2023)

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles
por: Ambrosini, Enrico, et al.
Publicado: (2023)

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report
por: Elisakova, Veronika, et al.
Publicado: (2018)

PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data()
por: Entezam, Mona, et al.
Publicado: (2016)

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease
por: Ali, Hamad, et al.
Publicado: (2015)

A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease
por: Zhao, Qianying, et al.
Publicado: (2023)

Identification of novel PKD1 mutations in two Chinese families with autosomal dominant polycystic kidney disease by targeted next generation sequencing
por: Liu, Qun, et al.
Publicado: (2020)

Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations
por: Losekoot, Monique, et al.
Publicado: (2020)

A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report
por: Xu, Peiwen, et al.
Publicado: (2018)

Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease
por: Zhuang, Jing, et al.
Publicado: (2023)

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System
por: Kinoshita, Moritoshi, et al.
Publicado: (2016)

A Non-Synonymous Mutation in the Canine Pkd1 Gene Is Associated with Autosomal Dominant Polycystic Kidney Disease in Bull Terriers
por: Gharahkhani, Puya, et al.
Publicado: (2011)

Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection
por: Zhang, Wenwen, et al.
Publicado: (2018)

Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease
por: Ebner, Kathrin, et al.
Publicado: (2017)

Pain and Obesity in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis of the Halt Progression of Polycystic Kidney Disease (HALT-PKD) Studies
por: Nowak, Kristen L., et al.
Publicado: (2021)

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation
por: Thomas, Christian, et al.
Publicado: (2018)

PKD1 and PKD2 mRNA cis-inhibition drives polycystic kidney disease progression
por: Lakhia, Ronak, et al.
Publicado: (2022)

PKD1 Compared With PKD2 Genotype and Cardiac Hospitalizations in the Halt Progression of Polycystic Kidney Disease Studies
por: Steele, Cortney, et al.
Publicado: (2021)

A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease
por: Seck, Sidy Mohamed, et al.
Publicado: (2013)

Safety and efficacy of Tolvaptan in real-world patients with autosomal dominant polycystic kidney disease- interim results of SLOW-PKD surveillance
por: Mochizuki, Toshio, et al.
Publicado: (2021)

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan
por: Yu, Chih-Chuan, et al.
Publicado: (2022)

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease
por: Ali, Hamad, et al.
Publicado: (2019)

PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis
por: Oda, Yasuhiro, et al.
Publicado: (2019)

GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease
por: Waldrop, Elizabeth, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_qvo37hq0hdr9ktfh6rl86e28po