Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.
about
Boning up on autophagy: the role of autophagy in skeletal biologyPaget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and functionDetection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.Emerging strategies and therapies for treatment of Paget's disease of bone.Polymorphisms in autophagy genes are associated with paget disease of bone.Gene expression profile in osteoclasts from patients with Paget's disease of bone.The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.Clinical and Genetic Advances in Paget's Disease of Bone: a Review.Pathogenesis of Paget disease of bone.Biology and Treatment of Paget's Disease of Bone.Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.Familial Paget disease and SQSTM1 mutations in New Zealand.Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia.Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.Zoledronic acid prevents pagetic-like lesions and accelerated bone loss in the p62 mouse model of Paget's disease
P2860
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P2860
Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Paget's disease of bone in the ...... notype-phenotype correlations.
@en
type
label
Paget's disease of bone in the ...... notype-phenotype correlations.
@en
prefLabel
Paget's disease of bone in the ...... notype-phenotype correlations.
@en
P2093
P356
P1476
Paget's disease of bone in the ...... enotype-phenotype correlations
@en
P2093
François Cornélis
Isabelle Lemaire
Jean-Louis Laplanche
Jean-Marie Launay
Laëtitia Michou
Maurice Audran
Pascal Hilliquin
Philippe Orcel
Stéphanie Chasseigneaux
Thomas Bardin
P304
P356
10.1359/JBMR.061106
P577
2007-02-01T00:00:00Z