# Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/positional-cloning-uncovers-mutations-in-plce1-responsible-for-a-nephrotic/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Bernward Hinkes,Roger C. Wiggins,Rasheed Gbadegesin,Christopher N. Vlangos,Dominik Seelow,Gudrun Nürnberg,Puneet Garg,Rakesh Verma,Hassan Chaı̈b,Bethan E. Hoskins,Shazia Ashraf,Christian Becker,Hans Christian Hennies,Meera Goyal,Bryan L. Wharram,Asher D. Schachter,Sudha Mudumana,Iain A. Drummond,Dontscho Kerjaschki,Rüdiger Waldherr,Alexander Dietrich,Fatih Özaltın,Ayşı̇n Bakkaloğlu,Roxana Cleper,Lina Basel‐Vanagaite,Martin Pöhl,Martin Griebel,А.Н. Цыгин,Alper Soylu,Dominik Müller,Caroline S Sorli,Tom D. Bunney,Matilda Katan,Jinhong Liu,Massimo Attanasio,John F. O’Toole,K Hasselbacher,Bettina E. Mucha,Edgar A. Otto,Rannar Airik,Andreas Kispert,Grant G. Kelley,Alan V. Smrcka,Thomas Gudermann,Lawrence B. Holzman,Peter Nürnberg,Friedhelm Hildebrandt |
| Citations | 567 |
| DOI | 10.1038/ng1918 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2060531484 |
| PMID | 17086182 |
| Type | article |
| Year | 2006 |

## Paper authors

- [Asher D. Schachter](https://scholariq.org/researchers/asher-d-schachter/)

## Paper primary topic

- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)

## Paper topics

- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Tuberous Sclerosis Complex Research](https://scholariq.org/topics/tuberous-sclerosis-complex-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.