# Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/gain-of-function-mutations-in-trpv4-cause-autosomal-dominant-brachyolmia/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Matthew J. Rock,Jean Prenen,Vincent Funari,Tara Funari,Barry Merriman,Stanley F. Nelson,Ralph S. Lachman,William R. Wilcox,Soraya Reyno,Roberto Quadrelli,Alicia Vaglio,Grzegorz Owsianik,Annelies Janssens,Thomas Voets,Shiro Ikegawa,Toshiro Nagai,David L. Rimoin,Bernd Nilius,Daniel H. Cohn |
| Citations | 236 |
| DOI | 10.1038/ng.166 |
| Fields | Neuroscience |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/ng.166.pdf |
| OpenAlex ID | https://openalex.org/W1988919269 |
| PMID | 18587396 |
| Type | article |
| Year | 2008 |

## Paper authors

- [Toshiro Nagai](https://scholariq.org/researchers/toshiro-nagai/)

## Paper primary topic

- [Ion Channels and Receptors](https://scholariq.org/topics/ion-channels-and-receptors/)

## Paper topics

- [Ion Channels and Receptors](https://scholariq.org/topics/ion-channels-and-receptors/)

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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.