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Article

Comprehensive analysis of the skeletal phenotype in Chst14-/- mice: implications for dermatan sulfate in bone structure and strength.

Glycobiology - 22 May 2026

Takahashi Yuki, Yoshizawa Takahiro, Mizumoto Shuji, Ono Fumiko, Uehara Masashi, Watanabe Takafumi, Shimada Shin, Nitahara-Kasahara Yuko, Yamada Shuhei, Takahashi Jun, Okada Takashi, Kosho Tomoki

Abstract excerpt

Dermatan sulfate (DS) is a glycosaminoglycan known to contribute to tissue strength through collagen fibril assembly. Musculocontractural Ehlers-Danlos syndrome (mcEDS) caused by pathogenic variants in the gene that encodes carbohydrate sulfotransferase 14 (CHST14) (mcEDS-CHST14) is a representative disorder of DS deficiency. Skeletal lesions, such as progressive spinal deformity and osteoporosis/osteopenia, are...

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Identifiers

PMID: 42139064
DOI: 10.1093/glycob/cwag037
PMCID: PMC13196589

Genes

CHST14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Comprehensive analysis of the skeletal phenotype in Chst14-/- mice: implications for dermatan sulfate in bone structure and strength.PMID 42139064Read ↗

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.Semantic proximity Read ↗

Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome.Semantic proximity Read ↗

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.Semantic proximity Read ↗

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.Semantic proximity Read ↗

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.Semantic proximity Read ↗

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.Semantic proximity Read ↗

Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.Semantic proximity Read ↗

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.Semantic proximity Read ↗

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.Semantic proximity Read ↗

Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.Semantic proximity Read ↗

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.Semantic proximity Read ↗

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.Semantic proximity Read ↗

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