Paget's disease of bone—genetic and environmental factors

Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

(2015) Giuseppe Marangi et al.   BRAIN RESEARCH

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone

(2015) Mahéva Vallet et al.   HUMAN MOLECULAR GENETICS

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

(2014) Alice Goode et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

(2014) Michael P. Whyte et al.   BONE

Detection of SQSTM1/P392L post-zygotic mutations in Paget’s disease of bone

(2014) Sabrina Guay-Bélanger et al.   HUMAN GENETICS

Epidemiology of Paget's disease of bone: A systematic review and meta-analysis of secular changes

(2013) Luis Corral-Gudino et al.   BONE

Genetic Association Study of Dickkopf-1 and Sclerostin Genes with Paget Disease of Bone

(2013) Mariejka Beauregard et al.   CALCIFIED TISSUE INTERNATIONAL

New Insights Into the Role of Sequestosome 1/p62 Mutant Proteins in the Pathogenesis of Paget's Disease of Bone

(2013) Sarah L. Rea et al.   ENDOCRINE REVIEWS

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB

(2013) Chun T Kwok et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of rare genetic variants in novel loci associated with Paget’s disease of bone

(2013) Mariejka Beauregard et al.   HUMAN GENETICS

Increased IL-6 Expression in Osteoclasts Is Necessary But Not Sufficient for the Development of Paget's Disease of Bone

(2013) Jumpei Teramachi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Sequestosome 1/p62: across diseases

(2012) Thangiah Geetha et al.   BIOMARKERS

Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone

(2012) Laëtitia Michou et al.   BONE

Giant cell tumor occurring in familial Paget's disease of bone: Report of clinical characteristics and linkage analysis of a large pedigree

(2012) Fernando Gianfrancesco et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Secular changes in Paget’s disease: contrasting changes in the number of new referrals and in disease severity in two neighboring regions of Spain

(2012) L. Corral-Gudino et al.   OSTEOPOROSIS INTERNATIONAL

The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology

(2012) Angèle Nalbandian et al.   PLoS One

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Contributions of the Measles Virus Nucleocapsid Gene and the SQSTM1/p62P392L Mutation to Paget's Disease

(2011) Noriyoshi Kurihara et al.   Cell Metabolism

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice

(2011) Anna Daroszewska et al.   HUMAN MOLECULAR GENETICS

A nonsynonymousTNFRSF11Avariation increases NFκB activity and the severity of Paget's disease

(2011) Fernando Gianfrancesco et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms

(2011) Pui Yan Jenny Chung et al.   MOLECULAR GENETICS AND METABOLISM

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

(2011) Omar M E Albagha et al.   NATURE GENETICS

Paget's Disease of Bone: Evidence for Complex Pathogenetic Interactions

(2011) Pui Yan Jenny Chung et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population

(2010) Laëtitia Michou et al.   BONE

The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes

(2010) Pui Yan Jenny Chung et al.   HUMAN GENETICS

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

(2010) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

Osteoclasts in human osteopetrosis contain viral-nucleocapsid-like nuclear inclusions

(2010) Barbara G. Mills et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Absence of paramyxovirus RNA in cultures of pagetic bone cells and in pagetic bon

(2010) M.A. Birch et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Detection of measles virus nucleocapsid transcripts in circulating blood cells from patients with paget disease

(2010) Sakamuri V. Reddy et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Frequency and characteristics of familial aggregation of paget's disease of bone

(2010) A.A. Morales-Piga et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Familial aggregation of paget's disease of bone

(2010) Ethel S. Siris et al.   JOURNAL OF BONE AND MINERAL RESEARCH

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

(2010) Luigi Gennari et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutations ofSQSTM1are associated with severity and clinical outcome in paget disease of bone

(2010) Micaela Rios Visconti et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

(2010) Mallikarjun Badadani et al.   PLoS One

Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family

(2009) Yao-hua Ke et al.   ACTA PHARMACOLOGICA SINICA

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-κB Signaling Without Loss of Ubiquitin Binding

(2009) Sarah L Rea et al.   JOURNAL OF BONE AND MINERAL RESEARCH

FGF-2 Stimulation of RANK Ligand Expression in Paget’s Disease of Bone

(2009) Kumaran Sundaram et al.   MOLECULAR ENDOCRINOLOGY

Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia

(2009) Conrad C. Weihl et al.   NEUROMUSCULAR DISORDERS

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic Epidemiology of Paget’s Disease of Bone in Italy: sequestosome1/p62 Gene Mutational Test and Haplotype Analysis at 5q35 in a Large Representative Series of Sporadic and Familial Italian Cases of Paget’s Disease of Bone

(2008) Alberto Falchetti et al.   CALCIFIED TISSUE INTERNATIONAL

Founder Effect in Different European Countries for the Recurrent P392L SQSTM1 Mutation in Paget’s Disease of Bone

(2008) Pui Yan Jenny Chung et al.   CALCIFIED TISSUE INTERNATIONAL

Sequestosome 1 (SQSTM1) Mutations in Paget’s Disease of Bone from the United States

(2008) Emily C. Rhodes et al.   CALCIFIED TISSUE INTERNATIONAL

Somatic Mutations inSQSTM1Detected in Affected Tissues From Patients With Sporadic Paget's Disease of Bone

(2008) Anand Merchant et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Failure to Detect Measles Virus Ribonucleic Acid in Bone Cells from Patients with Paget’s Disease

(2008) Brya G. Matthews et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Absence of Somatic SQSTM1 Mutations in Paget’s Disease of Bone

(2008) Brya G. Matthews et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM