Carbohydrate (N-Acetylgalactosamine 4-O) Sulfotransferase 14 (CHST14)
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Skin fragility in patients with EDS caused by D4ST1 deficiency is postulated to result from impaired assembly of collagen fibrils caused by replacement of a DS with a CS chain of decorin through alterations in electrostatic binding of decorin to collagen fibrils followed by a difference in the spatial relationship between collagen fibrils and decorin.
“In view of these findings, skin fragility in patients with EDS caused by D4ST1 deficiency is postulated to result from impaired assembly of collagen fibrils caused by the replacement of a DS with a CS chain of decorin through alterations in the electrostatic binding of decorin to collagen fibrils followed by difference in the spatial relationship between collagen fibrils and decorin”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2014
Cites
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation · doi:10.1002/humu.21300 · Cited by 156 · see citing works
Self-citationKosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., Igawa, Y., Yasui, H., Ishida, T., Ono, K., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33498 · Cited by 88 · see citing works
Self-citationShimizu, K., Okamoto, N., Miyake, N., Taira, K., Sato, Y., Matsuda, K., Akimaru, N., Ohashi, H., Wakui, K., Fukushima, Y., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34115 · Cited by 68 · see citing works
Self-citationKosho, T., Takahashi, J., Ohashi, H., Nishimura, G., Kato, H., & Fukushima, Y. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30965 · Cited by 51 · see citing works
Self-citationVoermans, N. C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M. C., Bönnemann, C., van Engelen, B. G., & Hamel, B. C. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35232 · Cited by 36 · see citing works
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The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
Self-citation
- Authors
- Kosho, T., Mizumoto, S., & Sugahara, K.
- Affiliations
- Shinshu University (JP)
- Hokkaido University (JP)
- Corresponding author
- Kosho, Tomoki
- Venue
- Handbook of Glycosyltransferases and Related Genes
- Publisher
- Springer Japan
- Published
- 2014
- Pages
- 1135-1148
- OpenAlex
- W18037103
- Cited by
- 6
- References
- 5
- Citations by year
- 2021: 1 · 2020: 1 · 2018: 1 · 2017: 1 · 2015: 2
- FWCI
- 1.45
- Type
- book chapter
- Language
- en
- Open access
- closed
- Licence
- Locations
- Springer eBooks (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- dermatan sulfate, Ehlers-Danlos syndrome, decorin, chondroitin sulfate, glycosaminoglycan synthesis, collagen fibril assembly, extracellular matrix, skin fragility, neural stem cell proliferation, neurogenesis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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