(Q34117611)

31 July 2017

1 reference

title

TRPV4-pathy, a novel channelopathy affecting diverse systems (English)

1 reference

31 July 2017

7

Andrea Superti-Furga

0 references

Sheila Unger

series ordinal

3

object named as

Sheila Unger

1 reference

31 July 2017

5

Gen Nishimura

1 reference

31 July 2017

8

Shiro Ikegawa

1 reference

31 July 2017

4

Ekkehart Lausch

1 reference

31 July 2017

Jin Dai

1

1 reference

31 July 2017

Tae-Joon Cho

series ordinal

2

1 reference

31 July 2017

Ok-Hwa Kim

series ordinal

6

1 reference

31 July 2017

publication date

27 May 2010

1 reference

Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

55

1 reference

31 July 2017

issue

7

1 reference

31 July 2017

page(s)

400-402

1 reference

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

Association of TRPV4 gene polymorphisms with chronic obstructive pulmonary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

The C-terminal domain of TRPV4 is essential for plasma membrane localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

Transient dimerization and interaction with ERGIC-53 occur in the fibroblast growth factor receptor 3 early secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.37

21 January 2018

Identifiers

DOI

10.1038/JHG.2010.37

1 reference

31 July 2017

1 reference