Cargando…

A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease

Autosomal polycystic kidney disease (ADPKD) is a genetic disorder with two causal PKD-1 and PKD-2. Genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in African populations. We report a new mutation found in a 41-year old...

Descripción completa

Detalles Bibliográficos
Autores principales:	Seck, Sidy Mohamed, Guèye, Serigne, Diouf, Boucar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Kowsar 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3703138/ https://www.ncbi.nlm.nih.gov/pubmed/23841043 http://dx.doi.org/10.5812/numonthly.6651

Ejemplares similares

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)

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease
por: Liu, Bei, et al.
Publicado: (2015)

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)

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)

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)

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

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

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

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

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

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)

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)

Prevalence of Chronic Cardiovascular and Metabolic Diseases in Senegalese Workers: A Cross-Sectional Study, 2010
por: Seck, Sidy Mohamed, et al.
Publicado: (2013)

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)

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

Mineral and Bone Disease in Black African Hemodialysis Patients: A Report From Senegal
por: Seck, Sidy Mohamed, et al.
Publicado: (2012)

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)

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)

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)

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)

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)

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)

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

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)

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)

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)

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

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)

Erectile Dysfunction in Chronic Hemodialysis Patients in Dakar: a Cross-Sectional Study in 2012
por: Ka, Elhadj Fary, et al.
Publicado: (2014)

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

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

Cannot write session to /tmp/vufind_sessions/sess_chnq82deff39l2kom6l8u28k4s