Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.S334P
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CCN6

NM_198239.2:p.S334P

Associated Papers

Identification and functional analysis of CCN6 variants in progressive pseudorheumatoid dysplasia: Exploring the potential role of ferroptosis and apoptosis in chondrocytes.

Sheng Y et al.

Genes & Diseases, 2026

41262529 (PubMed )
Supplement: mmc6.xlsx › ___1

Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.

Wang W et al.

Medicine, 2023

37417608 (PubMed )
Supplement: medi-102-e34099-s001.pdf

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.

Wang W et al.

World Journal of Pediatrics : Wjp, 2023

A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.

Yin L et al.

Clinical Rheumatology, 2022

Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Torreggiani S et al.

Rheumatology International, 2019

WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani MR et al.

Cold Spring Harbor Molecular Case Studies, 2018

Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.

Hu Q et al.

Bmc Medical Genetics, 2017

Dysfunction of collagen synthesis and secretion in chondrocytes induced by wisp3 mutation.

Wang M et al.

International Journal of Endocrinology, 2013

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Dalal A et al.

American Journal of Medical Genetics. Part A, 2012

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Garcia Segarra N et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.

Sun J et al.

Plos One, 2012

[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia].

Ye J et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

[Construction of WISP3 gene's mutants in SEDT-PA and their expression in COS-7 cells].

Wang M et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2008

Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation.

Zhou HD et al.

Journal of Molecular Medicine (berlin, Germany), 2007

[Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations].

Peng YQ et al.

Zhonghua Yi Xue Za Zhi, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."