×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort.
26713335
2016
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.
25241215
2015
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
24899140
2014
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.
23942205
2014
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
24042580
2013
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
23417734
2013
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone.
21878516
2011
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.
21195346
2011
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.
21195346
2011
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.
21515589
2011
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone.
20499339
2010
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.
19589897
2009
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.
19257822
2009
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.
19589897
2009
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.
18543015
2008
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment.
18765443
2008
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.
17229007
2006
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype.
16813535
2006
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.
15647816
2005
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations.
15765181
2005
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
15176995
2004
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.
15493999
2004
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
CausalMutation
CLINVAR
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
11992264
2002
×
Entrez Id:
51149
Gene Symbol:
MRNIP
MRNIP
PAGET DISEASE OF BONE 3
0.100
GeneticVariation
CLINVAR
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
11992264
2002