(Q34287791)

1 August 2017

title

TRPV4-associated skeletal dysplasias (English)

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1 August 2017

8

Andrea Superti-Furga

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Sheila Unger

series ordinal

9

object named as

Sheila Unger

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1 August 2017

3

Ravi Savarirayan

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1 August 2017

1

Gen Nishimura

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1 August 2017

7

Shiro Ikegawa

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1 August 2017

2

Ekkehart Lausch

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1 August 2017

Masahiro Shiba

4

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1 August 2017

Juergen Spranger

series ordinal

5

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1 August 2017

Bernhard Zabel

series ordinal

6

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1 August 2017

publication date

12 July 2012

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

1 August 2017

published in

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1 August 2017

volume

160C

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1 August 2017

issue

3

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1 August 2017

page(s)

190-204

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Familial digital arthropathy-brachydactyly

1 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FAJMG.C.31335

21 January 2018

1 reference

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Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Heterogeneity of metatropic dysplasia

21 January 2018

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Respiratory complications of metatropic dwarfism.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Expression and functional characterization of transient receptor potential vanilloid-related channel 4 (TRPV4) in rat cortical astrocytes.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31335

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Chondroprotective role of the osmotically sensitive ion channel transient receptor potential vanilloid 4: age- and sex-dependent progression of osteoarthritis in Trpv4-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

The vanilloid transient receptor potential channel TRPV4: from structure to disease

21 January 2018

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IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin-binding site.

21 January 2018

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Metatropic dysplasia lethal variants

21 January 2018

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Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.

21 January 2018

1 reference

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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/10.1002%2FAJMG.C.31335

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

An unusual bone dysplasia: parastremmatic dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

PDZ domain proteins: scaffolds for signaling complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Brachyolmia: radiographic and genetic evidence of heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Ca2+-dependent Potentiation of the Nonselective Cation Channel TRPV4 Is Mediated by a C-terminal Calmodulin Binding Site

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31335

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31335

1 reference

1 August 2017

1 reference