PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 34807422-5 2021 Musculocontractural EDS is caused by mutations in CHST14 or DSE, both of which encode enzymes responsible for the post-translational biosynthesis of dermatan sulfate. Dermatan Sulfate 149-165 carbohydrate sulfotransferase 14 Homo sapiens 50-56 25703627-5 2015 The glycanation of the dermal DS proteoglycan decorin is impaired in fibroblasts from D4ST1- as well as DS-epi1-deficient patients. Dermatan Sulfate 30-32 carbohydrate sulfotransferase 14 Homo sapiens 86-91 25703627-3 2015 DS-epi1 and D4ST1 are crucial for biosynthesis of dermatan sulfate (DS) moieties in the hybrid chondroitin sulfate (CS)/DS glycosaminoglycans (GAGs). Dermatan Sulfate 50-66 carbohydrate sulfotransferase 14 Homo sapiens 12-17 35552694-3 2022 In the biosynthesis of CS/DS containing GalNAc4S6S, three groups of sulfotransferases are involved; chondroitin 4-sulfotransferases (C4STs), dermatan 4-sulfotransferase-1 (D4ST-1) and GalNAc 4-sulfate 6-O-sulfotransferase (GalNAc4S-6ST). Dermatan Sulfate 26-28 carbohydrate sulfotransferase 14 Homo sapiens 141-170 35552694-3 2022 In the biosynthesis of CS/DS containing GalNAc4S6S, three groups of sulfotransferases are involved; chondroitin 4-sulfotransferases (C4STs), dermatan 4-sulfotransferase-1 (D4ST-1) and GalNAc 4-sulfate 6-O-sulfotransferase (GalNAc4S-6ST). Dermatan Sulfate 26-28 carbohydrate sulfotransferase 14 Homo sapiens 172-178 32130795-1 2020 BACKGROUND: Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis. Dermatan Sulfate 225-241 carbohydrate sulfotransferase 14 Homo sapiens 149-155 30553867-1 2019 Musculocontractural Ehlers-Danlos syndrome (mcEDS) due to CHST14/D4ST1 deficiency (mcEDS-CHST14) is a recently delineated type of EDS caused by biallelic loss-of-function mutations in CHST14, which results in the depletion of dermatan sulfate (DS). Dermatan Sulfate 226-242 carbohydrate sulfotransferase 14 Homo sapiens 58-64 30553867-1 2019 Musculocontractural Ehlers-Danlos syndrome (mcEDS) due to CHST14/D4ST1 deficiency (mcEDS-CHST14) is a recently delineated type of EDS caused by biallelic loss-of-function mutations in CHST14, which results in the depletion of dermatan sulfate (DS). Dermatan Sulfate 226-242 carbohydrate sulfotransferase 14 Homo sapiens 89-95 30553867-1 2019 Musculocontractural Ehlers-Danlos syndrome (mcEDS) due to CHST14/D4ST1 deficiency (mcEDS-CHST14) is a recently delineated type of EDS caused by biallelic loss-of-function mutations in CHST14, which results in the depletion of dermatan sulfate (DS). Dermatan Sulfate 47-49 carbohydrate sulfotransferase 14 Homo sapiens 58-64 30553867-1 2019 Musculocontractural Ehlers-Danlos syndrome (mcEDS) due to CHST14/D4ST1 deficiency (mcEDS-CHST14) is a recently delineated type of EDS caused by biallelic loss-of-function mutations in CHST14, which results in the depletion of dermatan sulfate (DS). Dermatan Sulfate 47-49 carbohydrate sulfotransferase 14 Homo sapiens 89-95 30553867-9 2019 McEDS-CHST14 provides a critical example of the importance of DS in GAG side chains of decorin-PG during assembly of collagen fibrils in maintenance of connective tissues. Dermatan Sulfate 3-5 carbohydrate sulfotransferase 14 Homo sapiens 6-12 26373698-3 2016 Thirty-one and three patients have been reported with MC-EDS so far with bi-allelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. Dermatan Sulfate 173-189 carbohydrate sulfotransferase 14 Homo sapiens 108-114 26373698-3 2016 Thirty-one and three patients have been reported with MC-EDS so far with bi-allelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. Dermatan Sulfate 58-60 carbohydrate sulfotransferase 14 Homo sapiens 108-114 20842734-9 2010 Our findings confirm that the EDS-variant associated with CHST14 mutations forms a clinical spectrum, which we propose to coin as "musculocontractural EDS" and which results from a defect in dermatan sulfate biosynthesis, perturbing collagen assembly. Dermatan Sulfate 191-207 carbohydrate sulfotransferase 14 Homo sapiens 58-64 21964831-0 2011 A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Dermatan Sulfate 98-114 carbohydrate sulfotransferase 14 Homo sapiens 23-52 21964831-0 2011 A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Dermatan Sulfate 98-114 carbohydrate sulfotransferase 14 Homo sapiens 54-59 21964831-0 2011 A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Dermatan Sulfate 98-114 carbohydrate sulfotransferase 14 Homo sapiens 60-66 21309034-0 2011 Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome". Dermatan Sulfate 83-99 carbohydrate sulfotransferase 14 Homo sapiens 8-37 21309034-0 2011 Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome". Dermatan Sulfate 83-99 carbohydrate sulfotransferase 14 Homo sapiens 39-44 21309034-0 2011 Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome". Dermatan Sulfate 83-99 carbohydrate sulfotransferase 14 Homo sapiens 45-51 20533528-4 2010 CHST14 encodes dermatan 4-O-sulfotransferase 1 (D4ST1), which transfers active sulfate from 3"-phosphoadenosine 5"-phosphosulfate to position 4 of the N-acetyl-D-galactosamine (GalNAc) residues of dermatan sulfate (DS). Dermatan Sulfate 197-213 carbohydrate sulfotransferase 14 Homo sapiens 0-6 20533528-4 2010 CHST14 encodes dermatan 4-O-sulfotransferase 1 (D4ST1), which transfers active sulfate from 3"-phosphoadenosine 5"-phosphosulfate to position 4 of the N-acetyl-D-galactosamine (GalNAc) residues of dermatan sulfate (DS). Dermatan Sulfate 197-213 carbohydrate sulfotransferase 14 Homo sapiens 48-53 20533528-4 2010 CHST14 encodes dermatan 4-O-sulfotransferase 1 (D4ST1), which transfers active sulfate from 3"-phosphoadenosine 5"-phosphosulfate to position 4 of the N-acetyl-D-galactosamine (GalNAc) residues of dermatan sulfate (DS). Dermatan Sulfate 215-217 carbohydrate sulfotransferase 14 Homo sapiens 0-6 20533528-4 2010 CHST14 encodes dermatan 4-O-sulfotransferase 1 (D4ST1), which transfers active sulfate from 3"-phosphoadenosine 5"-phosphosulfate to position 4 of the N-acetyl-D-galactosamine (GalNAc) residues of dermatan sulfate (DS). Dermatan Sulfate 215-217 carbohydrate sulfotransferase 14 Homo sapiens 48-53 20004762-3 2009 The CHST14 gene encodes N-acetylgalactosamine 4-O-sulfotransferase 1 (D4ST1), which catalyzes 4-O sulfation of N-acetylgalactosamine in the repeating iduronic acid-alpha1,3-N-acetylgalactosamine disaccharide sequence to form dermatan sulfate. Dermatan Sulfate 225-241 carbohydrate sulfotransferase 14 Homo sapiens 4-10 20807649-3 2010 ATCS is caused by homozygous nonsense and missense mutations in CHST14 which encodes an N-acetylgalactosamine 4-O-sulfotransferase 1 (D4ST1) that catalyzes the 4-O-sulfation of N-acetylgalactosamine in the repeating iduronic acid-alpha-1,3-N-acetylgalactosamine disaccharide sequence to form dermatan sulfate (DS). Dermatan Sulfate 292-308 carbohydrate sulfotransferase 14 Homo sapiens 64-70 20807649-3 2010 ATCS is caused by homozygous nonsense and missense mutations in CHST14 which encodes an N-acetylgalactosamine 4-O-sulfotransferase 1 (D4ST1) that catalyzes the 4-O-sulfation of N-acetylgalactosamine in the repeating iduronic acid-alpha-1,3-N-acetylgalactosamine disaccharide sequence to form dermatan sulfate (DS). Dermatan Sulfate 292-308 carbohydrate sulfotransferase 14 Homo sapiens 134-139 20807649-3 2010 ATCS is caused by homozygous nonsense and missense mutations in CHST14 which encodes an N-acetylgalactosamine 4-O-sulfotransferase 1 (D4ST1) that catalyzes the 4-O-sulfation of N-acetylgalactosamine in the repeating iduronic acid-alpha-1,3-N-acetylgalactosamine disaccharide sequence to form dermatan sulfate (DS). Dermatan Sulfate 310-312 carbohydrate sulfotransferase 14 Homo sapiens 64-70 20807649-3 2010 ATCS is caused by homozygous nonsense and missense mutations in CHST14 which encodes an N-acetylgalactosamine 4-O-sulfotransferase 1 (D4ST1) that catalyzes the 4-O-sulfation of N-acetylgalactosamine in the repeating iduronic acid-alpha-1,3-N-acetylgalactosamine disaccharide sequence to form dermatan sulfate (DS). Dermatan Sulfate 310-312 carbohydrate sulfotransferase 14 Homo sapiens 134-139 20004762-3 2009 The CHST14 gene encodes N-acetylgalactosamine 4-O-sulfotransferase 1 (D4ST1), which catalyzes 4-O sulfation of N-acetylgalactosamine in the repeating iduronic acid-alpha1,3-N-acetylgalactosamine disaccharide sequence to form dermatan sulfate. Dermatan Sulfate 225-241 carbohydrate sulfotransferase 14 Homo sapiens 70-75 20004762-4 2009 Mass spectrometry of glycosaminoglycans from a patient"s fibroblasts revealed absence of dermatan sulfate and excess of chondroitin sulfate, showing that 4-O sulfation by CHST14 is essential for dermatan sulfate formation in vivo. Dermatan Sulfate 195-211 carbohydrate sulfotransferase 14 Homo sapiens 171-177 19661164-4 2009 In this study, dermatan sulfate structure was evaluated after downregulating or increasing dermatan 4-O-sulfotransferase 1 (D4ST-1) expression. Dermatan Sulfate 15-31 carbohydrate sulfotransferase 14 Homo sapiens 124-130 19661164-7 2009 Analysis of the dermatan sulfate chains showed that D4ST-1 is essential for the biosynthesis of the disulfated structure iduronic acid-2-O-sulfate-N-acetylgalactosamine-4-O-sulfate, thus confirmed to be strictly connected with the iduronic acid blocks. Dermatan Sulfate 16-32 carbohydrate sulfotransferase 14 Homo sapiens 52-58 19661164-9 2009 In conclusion, D4ST-1 is a key enzyme and is indispensable in the formation of important functional domains in dermatan sulfate and cannot be compensated by other 4-O-sulfotransferases. Dermatan Sulfate 111-127 carbohydrate sulfotransferase 14 Homo sapiens 15-21 12847091-1 2003 4-O-Sulfation of GalNAc is a high frequency modification of chondroitin sulfate and dermatan sulfate (DS), and three major GalNAc 4-O-sulfotransferases including dermatan 4-O-sulfotransferase-1 (D4ST-1) and chondroitin 4-O-sulfotransferases-1 and -2 (C4ST-1 and -2) have been identified. Dermatan Sulfate 102-104 carbohydrate sulfotransferase 14 Homo sapiens 195-201