Recurrent Mutation of the Gene Encoding sequestosome 1 (SQSTM1/p62) in Paget Disease of Bone

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1998 • 3,523 citations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand

1999 • 1,621 citations

The staden sequence analysis package

1996 • 1,256 citations

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

1996 • 1,201 citations

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1991 • 801 citations

Severe osteopetrosis, defective interleukin‐1 signalling and lymph node organogenesis in TRAF6‐deficient mice

1999 • 639 citations

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

2000 • 473 citations

The atypical PKC-interacting protein p62 channels NF-kappa B activation by the IL-1-TRAF6 pathway

2000 • 422 citations

Proteins containing the UBA domain are able to bind to multi-ubiquitin chains

2001 • 405 citations

Activation of NF-κB by RANK Requires Tumor Necrosis Factor Receptor-associated Factor (TRAF) 6 and NF-κB-inducing Kinase

1999 • 399 citations

The UBA domain: a sequence motif present in multiple enzyme classes of the ubiquitination pathway

1996 • 397 citations

The interaction of p62 with RIP links the atypical PKCs to NF-kappa B activation

1999 • 394 citations

The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers

2001 • 338 citations

Pathophysiology and Treatment of Paget's Disease of Bone

1991 • 314 citations

Nuclear Inclusions in Paget's Disease of Bone

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2001 • 195 citations

Paget's Disease of Bone

1998 • 166 citations

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

1997 • 157 citations

Paget Disease of Bone: Mapping of Two Loci at 5q35-qter and 5q31

2001 • 141 citations

Paget's Disease of Bone: Evidence for a Susceptibility Locus on Chromosome 18q and for Genetic Heterogeneity

1998 • 140 citations

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The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene

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Genomewide Search in Familial Paget Disease of Bone Shows Evidence of Genetic Heterogeneity with Candidate Loci on Chromosomes 2q36, 10p13, and 5q35

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Genetic linkage of familial expansile osteolysis to chromosome 18q

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Pathophysiology and treatment of Paget’s disease of the bone.

1999 • 110 citations

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1998 • 100 citations

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Familial Paget’s disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q

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Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23

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Evidence for linkage between HLA and Paget's disease.

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The incidence and distribution of CpG←Tpg transitions in the coagulation factor IX gene. A fresh look at CPG mutitional hospots

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A Probable Linkage Between Familial Paget's Disease and the HLA Loci*

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Mouse models of abnormal skeletal development and homeostasis

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Microfilaments Associated with Paget’s Disease of Bone: Comparison with Nucleocapsids of Measles Virus and Respiratory Syncytial Virus

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Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

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The Genetics of Paget’s Disease of the Bone

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Familial Paget's Disease of Bone: Nonlinkage to the PDB1 and PDB2 Loci on Chromosomes 6p and 18q in a Large Pedigree

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Diagnostic Procedures for Paget’s Disease: Radiologic, Pathologic, and Laboratory Testing

1995 • 26 citations

Heterogeneity in Paget disease of the bone

2000 • 25 citations

Absence of HLA linkage in a family with osteitis deformans (Paget's disease of bone)

1988 • 19 citations

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism

1999 • 17 citations

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism

1999 • 17 citations

Clinical Features and Pharmacologic Treatment of Paget’s Disease

1995 • 16 citations

Paget's disease of bone

1991 • 10 citations