Title |
The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease—A Primer for Clinicians
|
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Published in |
Frontiers in Pediatrics, December 2017
|
DOI | 10.3389/fped.2017.00279 |
Pubmed ID | |
Authors |
Adrián Cordido, Lara Besada-Cerecedo, Miguel A. García-González |
Abstract |
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders worldwide. In recent decades, the field has undergone a revolution, starting with the identification of causal ADPKD genes, including PKD1, PKD2, and the recently identified GANAB. In addition, advances defining the genetic mechanisms, protein localization and function, and the identification of numerous pathways involved in the disease process, have contributed to a better understanding of this illness. Together, this has led to a better prognosis, diagnosis, and treatment in clinical practice. In this mini review, we summarize and discuss new insights about the molecular mechanisms underlying ADPKD, including its genetics, protein function, and cellular pathways. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 30% |
Saudi Arabia | 1 | 10% |
Switzerland | 1 | 10% |
Australia | 1 | 10% |
Canada | 1 | 10% |
Spain | 1 | 10% |
Unknown | 2 | 20% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 7 | 70% |
Scientists | 1 | 10% |
Science communicators (journalists, bloggers, editors) | 1 | 10% |
Practitioners (doctors, other healthcare professionals) | 1 | 10% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 90 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 10 | 11% |
Student > Bachelor | 9 | 10% |
Researcher | 8 | 9% |
Student > Ph. D. Student | 8 | 9% |
Student > Postgraduate | 4 | 4% |
Other | 17 | 19% |
Unknown | 34 | 38% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 21 | 23% |
Medicine and Dentistry | 17 | 19% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 3% |
Agricultural and Biological Sciences | 2 | 2% |
Unspecified | 2 | 2% |
Other | 11 | 12% |
Unknown | 34 | 38% |