|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of function leads to a congenital myopathy associated with insulin resistance (SEPN1-related myopathy).
|
30921636 |
2019 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref.1).
|
11528383 |
2001 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref.1).
|
11528383 |
2001 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref.1).
|
11528383 |
2001 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref.1).
|
11528383 |
2001 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
|
19067361 |
2009 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
|
19067361 |
2009 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
|
19067361 |
2009 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.
|
30642275 |
2019 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
|
16498447 |
2006 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
|
12207930 |
2002 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
|
23394784 |
2013 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
|
15122708 |
2004 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).
|
15792869 |
2005 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
|
23217329 |
2012 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
In particular, mutations in the SEPN1 gene encoding selenoprotein N (SelN) cause a group of neuromuscular disorders now referred to as SEPN1-related myopathy.
|
19285112 |
2009 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this review we discuss the physiological and pathophysiological role of SelN and the interest of SEPN1-related myopathy as a model paradigm to understand and target therapeutically other selenoproteins involved in human health and disease.
|
19769461 |
2010 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
MGD |
Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
|
21858002 |
2011 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Inherited defects of the reductase selenoprotein N in SEPN1-related myopathy leads to chronic OxS of monogenic origin as a primary disease pathomechanism.
|
27531051 |
2017 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
|
16779558 |
2006 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
|
27447704 |
2017 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in selenoprotein N (SEPN1) lead to a spectrum of disorders collectively called SEPN1-related myopathy, and mutations in glutathione peroxidase 4 (GPX4) cause respiratory failure and bone defects, and mutations in thioredoxin reductase 2 (TXNRD2) are associated with familial glucocorticoid deficiency.
|
27473727 |
2016 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and respiratory insufficiency.
|
23325319 |
2013 |