LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features.
|
28657126 |
2018 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We also suggest that lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn disease (LAAHD), the two AMC subtypes related to GLE1, do not have sufficient clinical or molecular differentiation to be considered allelic disorders.
|
27684565 |
2017 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
Biomarker
|
disease |
BEFREE |
These results identify a mechanistic step in Gle1's mRNA export function at nuclear pore complexes and directly implicate altered export in LCCS1 disease pathology.
|
24243016 |
2013 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.
|
23421748 |
2013 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
Biomarker
|
disease |
BEFREE |
We propose that defective GLE1 function in human LCCS1 results in both neurogenic and non-neurogenic defects linked to the apoptosis of proliferative organ precursors.
|
22357925 |
2012 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
|
18204449 |
2008 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
|
18204449 |
2008 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
Biomarker
|
disease |
CTD_human |
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
|
18204449 |
2008 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
|
18204449 |
2008 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.
|
16892327 |
2006 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features.
|
28657126 |
2018 |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
We hypothesize that mutations that preserve function of the coiled-coil domain of GLE1 cause LAAHD whereas mutations that abolish the function of the coiled-coil domain cause LCCS.
|
28884921 |
2017 |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.
|
23421748 |
2013 |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
|
18204449 |
2008 |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
|
18204449 |
2008 |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
|
18204449 |
2008 |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
|
18204449 |
2008 |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.
|
16892327 |
2006 |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Amyotrophic Lateral Sclerosis
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that pathogenic variants in the GLE1 gene are rare in Chinese ALS patients.
|
29398120 |
2018 |
Amyotrophic Lateral Sclerosis
|
0.430 |
Biomarker
|
disease |
BEFREE |
Pathological developments leading to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are associated with misbehavior of several key proteins, such as SOD1 (superoxide dismutase 1), TARDBP/TDP-43, FUS, C9orf72, and dipeptide repeat proteins generated as a result of the translation of the intronic hexanucleotide expansions in the C9orf72 gene, PFN1 (profilin 1), GLE1 (GLE1, RNA export mediator), PURA (purine rich element binding protein A), FLCN (folliculin), RBM45 (RNA binding motif protein 45), SS18L1/CREST, HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1), HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1), ATXN2 (ataxin 2), MAPT (microtubule associated protein tau), and TIA1 (TIA1 cytotoxic granule associated RNA binding protein).
|
28980860 |
2017 |