|
Peroxisome biogenesis disorders
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Low bone mineral density is a common feature of Zellweger spectrum disorders.
|
26643206 |
2016 |
|
Peroxisome biogenesis disorders
|
0.700 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Peroxisome biogenesis disorders
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |
|
Peroxisome biogenesis disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.
|
21846392 |
2011 |
|
Peroxisome biogenesis disorders
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.
|
21846392 |
2011 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
|
19877282 |
2010 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
|
19105186 |
2009 |
|
Peroxisome biogenesis disorders
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
|
19105186 |
2009 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
|
16086329 |
2005 |
|
Peroxisome biogenesis disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
Matsumoto and colleagues recently identified PEX26 as the gene responsible for complementation group 8 of the peroxisome biogenesis disorders and showed that it encodes an integral peroxisomal membrane protein with a single C-terminal transmembrane domain and a cytosolic N-terminus that interacts with the PEX1/PEX6 heterodimer through direct binding to the latter.
|
15858711 |
2005 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum.
|
16141001 |
2005 |
|
Peroxisome biogenesis disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
We report here on the results of PEX1 mutation detection in an Australasian cohort of PEX1-deficient PBD patients.
|
12402331 |
2002 |
|
Peroxisome biogenesis disorders
|
0.700 |
CausalMutation
|
group |
CLINVAR |
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.
|
12032265 |
2002 |
|
Peroxisome biogenesis disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
PEX1 is the causative gene for PBDs of complementation group E (CG-E, CG1 in the U.S.A. and Europe), the PBDs of highest incidence, encoding the peroxin Pex1p of the AAA ATPase family.
|
11439091 |
2001 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The peroxisome biogenesis disorders are genetically heterogeneous, having at least 12 different complementation groups (CGs).The gene affected in CG1 is PEX1.
|
11389485 |
2001 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
PEX1 mutation was delineated to be the genetic cause of PBD in the most highest incidence group, CG-E (the same as CG-I).
|
11330042 |
2000 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
|
11004248 |
2000 |
|
Peroxisome biogenesis disorders
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Identification of a common PEX1 mutation in Zellweger syndrome.
|
10447258 |
1999 |
|
Peroxisome biogenesis disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.
|
10480353 |
1999 |
|
Peroxisome biogenesis disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
PEX1 is the causative gene for PBDs of complementation group I (CG1), the highest incidence PBD, and encodes the peroxin, Pex1p, a member of the AAA ATPase family.
|
9817926 |
1998 |
|
Peroxisome biogenesis disorders
|
0.700 |
Biomarker
|
group |
CTD_human |
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
|
9539740 |
1998 |
|
Peroxisome biogenesis disorders
|
0.700 |
CausalMutation
|
group |
CLINVAR |
These data demonstrate an important role for PEX1 in peroxisome biogenesis and suggest that mutations in this gene are the most common cause of the PBDs.
|
9398847 |
1997 |
|
Peroxisome biogenesis disorders
|
0.700 |
Biomarker
|
group |
CTD_human |
These data demonstrate an important role for PEX1 in peroxisome biogenesis and suggest that mutations in this gene are the most common cause of the PBDs.
|
9398847 |
1997 |
|
Peroxisome biogenesis disorders
|
0.700 |
AlteredExpression
|
group |
BEFREE |
Expression of PEX1 rescued the cells from the biogenesis defect in human fibroblasts of complementation group 1 (CG1), the largest PBD complementation group.
|
9398848 |
1997 |