| Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations. | Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Singh S, Jacob P, Patil SJ, Muranjan M, Shah H, Girisha KM, Bhavani GS. | 02/16/2024 |
| Dampening HOTAIR sensitizes the gastric cancer cells to oxaliplatin through miR-195-5p and ABCG2 pathway. | Dampening HOTAIR sensitizes the gastric cancer cells to oxaliplatin through miR-195-5p and ABCG2 pathway.
Luo Y, Lu X, Ma W, Xiao Y, Wei C, Yuan X, Wu Y, Wang Y, Xiong Y, Yu X, Wu X, He S, Liu Y, Wang J, Wu Q, Zhou H, Jiang Z., Free PMC Article | 11/22/2023 |
| CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum. | 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. | 09/11/2023 |
| Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds. | 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., Free PMC Article | 09/3/2022 |
| Chondroitin 6-sulfate represses keratinocyte proliferation in mouse skin, which is associated with psoriasis. | Chondroitin 6-sulfate represses keratinocyte proliferation in mouse skin, which is associated with psoriasis.
Kitazawa K, Nadanaka S, Kadomatsu K, Kitagawa H., Free PMC Article | 08/21/2021 |
| Lysophosphatidic acid receptor 5 transactivation of TGFBR1 stimulates the mRNA expression of proteoglycan synthesizing genes XYLT1 and CHST3. | Lysophosphatidic acid receptor 5 transactivation of TGFBR1 stimulates the mRNA expression of proteoglycan synthesizing genes XYLT1 and CHST3.
Zhou Y, Little PJ, Cao Y, Ta HT, Kamato D. | 01/9/2021 |
| Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease. | Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease.
Lei J, Yan S, Zhou Y, Wang L, Zhang J, Guo X, Lammi MJ, Han J, Qu C. | 10/3/2020 |
| We show that the CHST3 and CHST13 alleles are significantly more frequent in pulmonary arterial hypertension patients with elevated aminotransferases during therapy with bosentan than those in patients without liver injury. This is the first pharmacogenomics study linking proteoglycan sulfating genes to drug-induced liver dysfunction. | 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. | 04/13/2019 |
| We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene. | Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR. | 10/21/2017 |
| A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss has been described in a consanguineous Pakistani pedigree. | 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., Free PMC Article | 05/27/2017 |
| Sequencing of CHST3 detected a previously unreported homozygous duplication c.407_426dup (p.Thr143Cysfs*80). The mutation is predicted to lead to frameshift and introduction of a premature stopcodon. | Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).
Searle C, Jewell R, Kraft J, Stoebe P, Chumas P, Titheradge H, Kraus A, Gencik M, Hobson E. | 07/26/2014 |
| expression of CHST3 mRNA was significantly reduced in the intervertebral disc cells of subjects carrying the A allele of rs4148941 | Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.
Song YQ, Karasugi T, Cheung KM, Chiba K, Ho DW, Miyake A, Kao PY, Sze KL, Yee A, Takahashi A, Kawaguchi Y, Mikami Y, Matsumoto M, Togawa D, Kanayama M, Shi D, Dai J, Jiang Q, Wu C, Tian W, Wang N, Leong JC, Luk KD, Yip SP, Cherny SS, Wang J, Mundlos S, Kelempisioti A, Eskola PJ, Männikkö M, Mäkelä P, Karppinen J, Järvelin MR, O'Reilly PF, Kubo M, Kimura T, Kubo T, Toyama Y, Mizuta H, Cheah KS, Tsunoda T, Sham PC, Ikegawa S, Chan D., Free PMC Article | 02/22/2014 |
| The results of this study indicated that the critical period for cortical plasticity is regulated by the 4S/6S ratio of CSPGs, which determines the maturation of parvalbumin-expressing interneurons. | Persistent cortical plasticity by upregulation of chondroitin 6-sulfation.
Miyata S, Komatsu Y, Yoshimura Y, Taya C, Kitagawa H. | 04/21/2012 |
| Vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance are characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations. | Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. | 11/27/2010 |
| homozygous missense mutation (T141M) in exon 3 in all three family members with spondyloepiphyseal dysplasia with cardiac involvement | Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S. | 01/21/2010 |
| Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1. | Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1.
Kitagawa H, Tsutsumi K, Ikegami-Kuzuhara A, Nadanaka S, Goto F, Ogawa T, Sugahara K. | 01/21/2010 |
| report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations | Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesAssociation study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
Saito A, Kawamoto M, Kamatani N. Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients.
Nordgard SH, Johansen FE, Alnaes GI, Bucher E, Syvänen AC, Naume B, Børresen-Dale AL, Kristensen VN. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. | 04/23/2008 |