Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis (Q39366515)

11 September 2017

Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis (English)

1 reference

11 September 2017

Paget's disease of bone

1 reference

Jie-Mei Gu

1

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11 September 2017

Zhen-Lin Zhang

2

1 reference

11 September 2017

Hao Zhang

3

1 reference

11 September 2017

Wei-Wei Hu

4

1 reference

11 September 2017

Chun Wang

5

1 reference

11 September 2017

Hua Yue

6

1 reference

11 September 2017

Yao-Hua Ke

7

1 reference

11 September 2017

Jin-Wei He

8

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11 September 2017

Yun-Qiu Hu

9

1 reference

11 September 2017

Miao Li

10

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11 September 2017

Yu-Juan Liu

11

1 reference

11 September 2017

Wen-Zhen Fu

12

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11 September 2017

11 April 2012

1 reference

Journal of Bone and Mineral Metabolism

11 September 2017

1 reference

11 September 2017

30

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11 September 2017

5

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11 September 2017

525-533

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https://scigraph.springernature.com/pub.10.1007/s00774-012-0352-6

11 September 2017

0 references

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Paget's disease of bone (osteitis deformans).

1 reference

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Prevalence and clinical features of Paget's disease of bone in Japan

21 January 2018

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Paget's disease of bone: current concepts in pathogenesis and treatment.

21 January 2018

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Paget's disease of bone in a Chinese patient: a case report and review of the literature.

21 January 2018

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Familial aggregation of Paget's disease of bone

21 January 2018

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A family study of Paget's disease of bone

21 January 2018

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Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

21 January 2018

1 reference

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Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations

21 January 2018

1 reference

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Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences

21 January 2018

1 reference

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Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

21 January 2018

1 reference

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p62, a phosphotyrosine-independent ligand of the SH2 domain of p56lck, belongs to a new class of ubiquitin-binding proteins

21 January 2018

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Incidence and natural history of Paget's disease of bone in England and Wales.

21 January 2018

1 reference

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

1 reference

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

21 January 2018

1 reference

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Paget's disease of bone: a review of 889 patients

21 January 2018

1 reference

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

21 January 2018

1 reference

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Genetics of Paget's disease of bone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00774-012-0352-6

Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone

21 January 2018

1 reference

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Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).

21 January 2018

1 reference

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The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis.

21 January 2018

1 reference

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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.

21 January 2018

1 reference

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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.

21 January 2018

1 reference

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Three Novel Mutations in SQSTM1 Identified in Familial Paget's Disease of Bone

21 January 2018

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Paget's disease of bone in Italy.

21 January 2018

1 reference

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Treatment of Paget's disease of bone: a survey of clinical practice in Australia

21 January 2018

1 reference

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Morbidity and mortality associated with Paget's disease of bone: a population-based study

21 January 2018

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p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

21 January 2018

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Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice

21 January 2018

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

21 January 2018

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Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

21 January 2018

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On a Form of Chronic Inflammation of Bones (Osteitis Deformans).

21 January 2018

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12 December 2020

Paget's disease of bone

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12 December 2020

Paget's disease of bone: experience from a centre in southern India.

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12 December 2020

Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions

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12 December 2020

Guidelines for diagnosis and management of Paget's disease of bone in Japan

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12 December 2020

Evidence for increased clinical severity of familial and sporadic Paget's disease of bone in Campania, southern Italy

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12 December 2020

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

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12 December 2020

Paget's disease of bone: diagnosis and management

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12 December 2020

10.1007/S00774-012-0352-6

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1 reference

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30 July 2022

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Fatcat

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https://api.fatcat.wiki/v0/release/ydk7znyohrfibpip32rbetjlwa

30 July 2022