(Q39464645)

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13 February 2020

title

Mutations in TRPV4 cause an inherited arthropathy of hands and feet (English)

1 reference

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13 February 2020

14

1 reference

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13 February 2020

Shireen R Lamandé

1

1 reference

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13 February 2020

Christopher B Little

7

1 reference

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13 February 2020

David J Amor

10

1 reference

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13 February 2020

Peter McIntyre

13

1 reference

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13 February 2020

12

Ravi Savarirayan

1 reference

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13 February 2020

author name string

Yuan Yuan

2

1 reference

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13 February 2020

Irma L Gresshoff

3

1 reference

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13 February 2020

Lynn Rowley

4

1 reference

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13 February 2020

Daniele Belluoccio

5

1 reference

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13 February 2020

Kumara Kaluarachchi

6

1 reference

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13 February 2020

Elke Botzenhart

8

1 reference

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13 February 2020

Klaus Zerres

9

1 reference

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13 February 2020

William G Cole

11

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13 February 2020

language of work or name

English

0 references

publication date

2 October 2011

1 reference

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13 February 2020

1 reference

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13 February 2020

volume

43

1 reference

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13 February 2020

issue

11

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13 February 2020

page(s)

1142-1146

1 reference

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Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.

13 February 2020

cites work

1 reference

12 December 2020

S100A8 and S100A9 in experimental osteoarthritis.

1 reference

12 December 2020

Temperature-modulated diversity of TRPV4 channel gating: activation by physical stresses and phorbol ester derivatives through protein kinase C-dependent and -independent pathways

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

1 reference

12 December 2020

Functional characterization of TRPV4 as an osmotically sensitive ion channel in porcine articular chondrocytes

1 reference

12 December 2020

ADAMTS-1-knockout mice do not exhibit abnormalities in aggrecan turnover in vitro or in vivo

1 reference

12 December 2020

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

1 reference

12 December 2020

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

1 reference

12 December 2020

OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity

1 reference

12 December 2020

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

1 reference

12 December 2020

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Global comparative transcriptome analysis of cartilage formation in vivo

1 reference

12 December 2020

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

1 reference

12 December 2020

Heat-evoked activation of TRPV4 channels in a HEK293 cell expression system and in native mouse aorta endothelial cells

1 reference

12 December 2020

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

1 reference

12 December 2020

Blocking aggrecanase cleavage in the aggrecan interglobular domain abrogates cartilage erosion and promotes cartilage repair

1 reference

12 December 2020

1 reference

12 December 2020

Easy calculations of lod scores and genetic risks on small computers

1 reference

12 December 2020

Familial digital arthropathy-brachydactyly

1 reference

12 December 2020

N-((1S)-1- -3-hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl)-1-benzothiophene-2-carboxamide (GSK1016790A), a Novel and Potent Transient Receptor Potential Vanilloid 4 Channel Agonist Induces Urinary Bladder Contraction and Hyperactivity: Pa

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Ankyrin repeat: a unique motif mediating protein-protein interactions.

1 reference

12 December 2020

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

1 reference

12 December 2020

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

1 reference

12 December 2020

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

1 reference

12 December 2020

Activation of TRPV4 channels (hVRL-2/mTRP12) by phorbol derivatives

1 reference

12 December 2020

Homo- and heteromeric assembly of TRPV channel subunits.

1 reference

12 December 2020

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

1 reference

12 December 2020

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

1 reference

12 December 2020

The surgical destabilization of the medial meniscus (DMM) model of osteoarthritis in the 129/SvEv mouse

1 reference

12 December 2020

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.945

7 January 2021