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CHST3-Related Skeletal Dysplasia.
Superti-Furga A, Unger S. Superti-Furga A, et al. 2011 Sep 1 [updated 2019 Jan 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2011 Sep 1 [updated 2019 Jan 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21882400 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis is based on the radiographic features of progressive spondyloepiphyseal dysplasia with joint anomalies, spinal abnormalities, normal thumbs (not spatulate), and normal bone age. CHST3 is the only gene in which pathogenic variants are known …
DIAGNOSIS/TESTING: The diagnosis is based on the radiographic features of progressive spondyloepiphyseal dysplasia with joint anomalies, spi …
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
Duz MB, Topak A. Duz MB, et al. Clin Dysmorphol. 2020 Oct;29(4):167-172. doi: 10.1097/MCD.0000000000000329. Clin Dysmorphol. 2020. PMID: 32639237 Review.
Biallelic CHST3 c.776T>C mutations are most frequent mutation in CHST3 and have been reported predominantly in Turkish patients which may be remarkable for genotype-ethnicity correlation in chondrodysplasia with congenital joint dislocations, CHST3 type. I …
Biallelic CHST3 c.776T>C mutations are most frequent mutation in CHST3 and have been reported predominantly in Turkish pati …
CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Otaify GA, Elhossini RM, Abdel-Ghafar SF, Sayed IM, Abdel-Salam GMH, Aglan MS, Abdel-Hamid MS. Otaify GA, et al. Am J Med Genet A. 2023 Aug;191(8):2100-2112. doi: 10.1002/ajmg.a.63246. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183573
Herein, we describe 14 new patients from 11 unrelated Egyptian families with CHST3-related skeletal dysplasia. All patients had spondyloepiphyseal changes that were progressive with age in addition to bifid distal ends of humeri which can be considered a diagnostic key in …
Herein, we describe 14 new patients from 11 unrelated Egyptian families with CHST3-related skeletal dysplasia. All patients had spond …
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Singh S, Jacob P, Patil SJ, Muranjan M, Shah H, Girisha KM, Bhavani GS. Singh S, et al. Am J Med Genet A. 2024 Mar;194(3):e63422. doi: 10.1002/ajmg.a.63422. Epub 2023 Oct 24. Am J Med Genet A. 2024. PMID: 37876363
CHST3-related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3. ...Sanger sequencing was carried out to investigate molecular etiology in eight patien …
CHST3-related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by …
Aging-Associated Changes in Cognition, Expression and Epigenetic Regulation of Chondroitin 6-Sulfotransferase Chst3.
Baidoe-Ansah D, Sakib S, Jia S, Mirzapourdelavar H, Strackeljan L, Fischer A, Aleshin S, Kaushik R, Dityatev A. Baidoe-Ansah D, et al. Cells. 2022 Jun 27;11(13):2033. doi: 10.3390/cells11132033. Cells. 2022. PMID: 35805117 Free PMC article.
Further analysis of epigenetic mechanisms revealed a decrease in H3K4me3, three methyl groups at the lysine 4 on the histone H3 proteins, associated with the promoter region of the Chst3 gene, resulting in the downregulation of Chst3 expression in non-neuronal cells …
Further analysis of epigenetic mechanisms revealed a decrease in H3K4me3, three methyl groups at the lysine 4 on the histone H3 proteins, as …
A Chinese case of CHST3-related skeletal dysplasia and a systematic review.
Liang H, Qi W, Jin C, Pang Q, Cui L, Jiang Y, Wang O, Li M, Xing X, Liu W, Xia W. Liang H, et al. Endocrine. 2023 Jun;80(3):658-668. doi: 10.1007/s12020-023-03303-z. Epub 2023 Feb 2. Endocrine. 2023. PMID: 36729370
PURPOSE: We reported a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and made a systematic review of all previously reported cases. ...CONCLUSION: Progressive joint pain and movement restriction are the main characteristics of CHST3- …
PURPOSE: We reported a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and made a systematic review of …
Carbohydrate sulfotransferase 3 (CHST3) overexpression promotes cartilage endplate-derived stem cells (CESCs) to regulate molecular mechanisms related to repair of intervertebral disc degeneration by rat nucleus pulposus.
Guan Y, Sun C, Zou F, Wang H, Lu F, Song J, Liu S, Xia X, Jiang J, Ma X. Guan Y, et al. J Cell Mol Med. 2021 Jul;25(13):6006-6017. doi: 10.1111/jcmm.16440. Epub 2021 May 16. J Cell Mol Med. 2021. PMID: 33993645 Free PMC article.
We performed GO and KEGG analysis of GSE15227 database to select the differential genes CHST3 and CSPG4 in grade , and intervertebral disc degeneration, IHC and WB to detect the protein profile of CHST3 and CSPG4, Co-IP for the interaction between CHST3 and C …
We performed GO and KEGG analysis of GSE15227 database to select the differential genes CHST3 and CSPG4 in grade , and intervertebral …
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM. Waryah AM, et al. Clin Genet. 2016 Jul;90(1):90-5. doi: 10.1111/cge.12694. Epub 2015 Dec 21. Clin Genet. 2016. PMID: 26572954 Free PMC article.
To identify pathogenic variants in this family, whole exome sequencing (WES) was performed in one affected and one normal individual, which revealed a novel transversion mutation (c.802G>T; p.Glu268*) in CHST3 associated with the phenotype. CHST3 encodes a chondr …
To identify pathogenic variants in this family, whole exome sequencing (WES) was performed in one affected and one normal individual, which …
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
Kausar M, Ain NU, Hayat F, Fatima H, Azim S, Ullah H, Mushtaq M, Khalid S, Hussain S, Naz S, Janjua J, Amjad SB, Baig RM, Makitie O, Qamar R, Ikegawa S, Gen N, Khor CC, Foo JN, Siddiqi S. Kausar M, et al. BMC Musculoskelet Disord. 2022 Aug 30;23(1):818. doi: 10.1186/s12891-022-05719-6. BMC Musculoskelet Disord. 2022. PMID: 36042462 Free PMC article.
(Leu197Pro), c.603C > A;p.(Tyr201Ter) and c.661C > T;p.(Arg221Cys) in CHST3 (NM_004273.5) in the three families with eight, five and two affected individuals, respectively. ...
(Leu197Pro), c.603C > A;p.(Tyr201Ter) and c.661C > T;p.(Arg221Cys) in CHST3 (NM_004273.5) in the three families with eight, fiv …
CHST3 and CHST13 polymorphisms as predictors of bosentan-induced liver toxicity in Japanese patients with pulmonary arterial hypertension.
Yorifuji K, Uemura Y, Horibata S, Tsuji G, Suzuki Y, Miyagawa K, Nakayama K, Hirata KI, Kumagai S, Emoto N. Yorifuji K, et al. Pharmacol Res. 2018 Sep;135:259-264. doi: 10.1016/j.phrs.2018.08.011. Epub 2018 Aug 15. Pharmacol Res. 2018. PMID: 30118797

We extracted 16 SNPs (P < 0.05) using the Jonckheere-Terpstra trend test and multiplex logistic analysis; we identified two SNPs in two genes, CHST3 and CHST13, which are responsible for proteoglycan sulfation and were significantly associated with bosentan-induced live

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We extracted 16 SNPs (P < 0.05) using the Jonckheere-Terpstra trend test and multiplex logistic analysis; we identified two SNPs in two g

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85 results