Oculomelic amyoplasia
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe two distinct PIEZO2 mutations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autosomal dominant contractures with limited eye movements, restrictive lung disease, and variable absence of cruciate knee ligaments.
|
23487782 |
2013 |
Oculomelic amyoplasia
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.
|
24726473 |
2014 |
Oculomelic amyoplasia
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
|
25712306 |
2015 |
Oculomelic amyoplasia
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.
|
24726473 |
2014 |
Oculomelic amyoplasia
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Dominant PIEZO2 mutations were described in patients with distal arthrogryposis type 5 and Marden-Walker syndrome.
|
27974811 |
2017 |
Oculomelic amyoplasia
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Both types of changes in kinetics result in increased channel activity in response to a given mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function mutations in PIEZO2.
|
23487782 |
2013 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome.
|
30938034 |
2019 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Therefore, the objective of the present study was to systematically assess the effect of different pathological mutations of PIEZO2 on transcription, translation, as well as protein structure and function that contribute to GS/DA3, DA5, MWS and associated diseases based on a bioinformatics analysis using the Pubmed, ClinVar, RaptorX and Phyre2 online databases.
|
30988732 |
2019 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family.
|
24726473 |
2014 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Familial Gordon syndrome associated with a PIEZO2 mutation.
|
27714920 |
2017 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family.
|
24726473 |
2014 |
MARDEN-WALKER SYNDROME
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PIEZO2 may cause distal arthrogryposis 3 (DA3)/Gordon syndrome (GS), DA5, Marden-Walker syndrome (MWS) and associated diseases.
|
30988732 |
2019 |
MARDEN-WALKER SYNDROME
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.
|
24726473 |
2014 |
MARDEN-WALKER SYNDROME
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome.
|
30938034 |
2019 |
MARDEN-WALKER SYNDROME
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Dominant PIEZO2 mutations were described in patients with distal arthrogryposis type 5 and Marden-Walker syndrome.
|
27974811 |
2017 |
MARDEN-WALKER SYNDROME
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.
|
24726473 |
2014 |
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.
|
27607563 |
2017 |
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
The Role of PIEZO2 in Human Mechanosensation.
|
27653382 |
2016 |
Distal arthrogryposis syndrome
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis.
|
27607563 |
2017 |
Distal arthrogryposis syndrome
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the human PIEZO2 gene cause three clinical types of autosomal dominant distal arthrogryposis.
|
28728825 |
2017 |
Distal arthrogryposis syndrome
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
In order to correlate genotype with phenotype in DA, retrospective analyses of phenotypic features according to the TPM2 and PIEZO2 mutation spectrums were carried out.
|
30285720 |
2018 |
Distal arthrogryposis syndrome
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms.
|
30988732 |
2019 |
Distal arthrogryposis syndrome
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
|
23487782 |
2013 |
Distal arthrogryposis syndrome
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment.
|
30578100 |
2019 |