Charcot-Marie-Tooth Disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.
|
22031878 |
2011 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
These findings identify a novel function for HSPB1 as a negative regulator of BIM protein stability leading to protection against ER stress-induced apoptosis, a function that is absent in CMT-associated HSPB1 mutants.
|
29048431 |
2017 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
We observed the additional HSPB1 mutations in four families with distal HMN and in one individual with CMT neuropathy.
|
15122254 |
2004 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B.
|
29381233 |
2018 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
|
28595321 |
2017 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutation in HSP27 has been identified as the cause of axonal Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (HMN).
|
16155736 |
2005 |
Charcot-Marie-Tooth Disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
We observed the additional HSPB1 mutations in four families with distal HMN and in one individual with CMT neuropathy.
|
15122254 |
2004 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The frequency of the Hsp27 mutation is 0.9% (1/111) in Chinese patients with CMT disease in our study, and the phenotypes were characterized by later onset (age, 35-60 years) and mild sensory impairments.
|
16087758 |
2005 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We observed the additional HSPB1 mutations in four families with distal HMN and in one individual with CMT neuropathy.
|
15122254 |
2004 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
|
25547330 |
2015 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
We analyzed the HSPB1 and HSPB8 genes in a large clinically well-characterized series of dHMN and CMT type 2 (CMT2) cases and families using linkage analysis and direct sequencing of these genes.
|
18832141 |
2008 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy.
|
23728742 |
2013 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
To date, mutations in the coding regions of HSPB1 (Hsp27) and HSPB8 (Hsp22) were reported to cause distal hereditary motor neuropathy and Charcot-Marie-Tooth disease.
|
28969372 |
2017 |
Charcot-Marie-Tooth Disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
|
20660910 |
2010 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>HSPB1</i> gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy.
|
28828227 |
2017 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, we present a family with a novel mutation in the C-terminus of HSP27 (p.Gln175X) [corrected] with a motor predominant distal neuropathy but with definite sensory involvement compatible with CMT2.
|
22734906 |
2012 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in HSPB1 result in the development of a late-onset, distal hereditary motor neuropathy type II (dHMN) and axonal Charcot-Marie Tooth disease with sensory involvement (CMT2F).
|
28797631 |
2017 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although named over 100 years ago, identification of subtypes of Charcot-Marie-Tooth has rapidly expanded in the preceding decades with the advancement of genetic sequencing, including type 2F (CMT2F), due to mutations in heat shock protein 27 (Hsp27).
|
31212070 |
2019 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in HSPB1 result in axonal Charcot-Marie-Tooth disease with minimal sensory involvement (CMT2F) and distal hereditary motor neuropathy type 2 (dHMN-II).
|
22521462 |
2012 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
A number of missense mutations in the two related small heat shock proteins HspB8 (Hsp22) and HspB1 (Hsp27) have been associated with the inherited motor neuron diseases (MND) distal hereditary motor neuropathy and Charcot-Marie-Tooth disease.
|
20157854 |
2010 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Congenital mutations in human small heat shock protein HSPB1 (HSP27) have been linked to Charcot-Marie-Tooth disease, a commonly occurring peripheral neuropathy.
|
29330367 |
2018 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%).
|
16215937 |
2005 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Most mutations in HSPB1 cause axonal Charcot-Marie-Tooth neuropathy and/or distal hereditary motor neuropathy.
|
30669930 |
2019 |
Charcot-Marie-Tooth Disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.
|
20178975 |
2010 |
Charcot-Marie-Tooth Disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
|
25025039 |
2014 |