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Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically heterogeneous group of disorders caused by biallelic mutations in peroxin (PEX) genes.
|
31724321 |
2020 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Peroxisome biogenesis disorders (PBD) are a group of multi-system human diseases due to mutations in the PEX genes that are responsible for peroxisome assembly and function.
|
28640802 |
2017 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family.
|
29047053 |
2017 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Isolation and characterization of peroxisome-deficient CHO cell mutants has allowed the identification of PEX genes and the gene products peroxins, which directly leads to the accomplishment of isolation of pathogenic genes responsible for human PBDs, as well as elucidation of their functional roles in peroxisome biogenesis.
|
28409474 |
2017 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family.
|
28330580 |
2017 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Peroxisome biogenesis disorders (PBD) are a heterogeneous group of disorders due to PEX genes mutations, with a broad clinical spectrum comprising severe neonatal disease to mild presentation.
|
26947510 |
2016 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions.
|
26750748 |
2016 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in PEX5 or 12 other PEX genes cause peroxisome biogenesis disorders, collectively named the Zellweger spectrum disorders (ZSDs), whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1).
|
26220973 |
2015 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Among the human PEX genes associated with peroxisome biogenesis disorders, only the PEX11 family genes had not previously been associated with human disease.
|
22581969 |
2012 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The genetic heterogeneity among PBDs and the inability to predict from the biochemical and clinical phenotype of a patient with ZSS which of the currently known 13 PEX genes is defective, has fostered the development of different strategies to identify the causative gene defects.
|
22871920 |
2012 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes.
|
22894767 |
2012 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
After excluding mutations in all PEX genes previously implicated in peroxisome biogenesis disorders, it was found that the defect was caused by a homozygous non-sense mutation in the PEX11β gene.
|
22581968 |
2012 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thirteen complementation groups and PEX genes responsible for all subgroups of PBD, plus 10 diseases and their responsible genes in SED have been identified.
|
21470807 |
2011 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Peroxisome biogenesis disorders (PBDs) are multisystemic autosomal recessive disorders resulting from mutations in PEX genes required for normal peroxisome assembly and metabolic activities.
|
21465523 |
2011 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The autosomal recessive Zellweger syndrome spectrum (ZSS) disorders comprise a main subgroup of the peroxisome biogenesis disorders and can be caused by mutations in any of 12 different currently identified PEX genes resulting in severe multisystemic disorders.
|
21031596 |
2011 |
|
Peroxisome biogenesis disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
During the past 10 years, several Pex genes have been knocked out in the mouse with the purpose to generate models to study the pathogenesis of peroxisome biogenesis disorders and/or to investigate the physiological importance of the Pex proteins.
|
17007945 |
2006 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD.
|
17055079 |
2006 |
|
Peroxisome biogenesis disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
|
15542397 |
2004 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Among the PBDs of the 12 complementation groups (CGs), 11 associated PEX genes have been isolated.
|
12717447 |
2003 |
|
Peroxisome biogenesis disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes.
|
12402331 |
2002 |
|
Peroxisome biogenesis disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Peroxisome biogenesis disorders are inherited in an autosomal recessive manner and result from mutations in any of at least 12 PEX genes that encode peroxins.
|
12169017 |
2002 |
|
Peroxisome biogenesis disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
This article reviews these advances in PBD genetics and discusses how studies of human PEX genes, their protein products and PBD cell lines are shaping current models of peroxisome biogenesis.
|
10904262 |
2000 |
|
Peroxisome biogenesis disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
These data suggest that allelic heterogeneity of the PEX gene affects the peroxisomal protein import and functions and regulates the clinical severity in PBD.
|
10528859 |
1999 |
|
Peroxisome biogenesis disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
At least eleven PBD complementation groups have been identified by somatic-cell hybridization analysis compared to the eighteen PEX complementation groups that have been found in yeast.
|
9398848 |
1997 |
|
Peroxisome biogenesis disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
This cellular phenotype is shared by yeast pex mutants, and human orthologues of yeast PEX genes have been shown to be defective in some groups of PBD patients.
|
9090384 |
1997 |