Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos Syndrome
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Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos Syndrome
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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, 2013
Cites
The Ehlers–Danlos syndrome, a disorder with many faces
De Paepe, A., & Malfait, F. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01858.x · Cited by 379 · see citing works
Steinmann, B., Royce, P. M., & Superti‐Furga, A. (2002) · Connective Tissue and Its Heritable Disorders · doi:10.1002/0471221929.ch9 · Cited by 358 · see citing works
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-citationGenetics of the Ehlers–Danlos syndrome: More than collagen disorders
Van Damme, T., Syx, D., Coucke, P., Symoens, S., De Paepe, A., & Malfait, F. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1022528 · Cited by 4 · see citing works
- Authors
- Kosho, T.
- Corresponding author
- Kosho, Tomoki
- ORCID
- Kosho, Tomoki
- Venue
- Current Genetics in Dermatology
- Publisher
- InTech
- Published
- 2013-02-06
- OpenAlex
- W1574176198
- Cited by
- 12
- References
- 7
- Citations by year
- 2020: 1 · 2018: 2 · 2017: 3 · 2016: 1 · 2015: 4 · 2014: 1
- FWCI
- 5.03
- Type
- book chapter
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- InTech eBooks (publishedVersion, cc-by)
- BiblioBoard Library Catalog (Open Research Library) (submittedVersion, cc-by)
- Contact-less Assessment of In-vivo Body Signals Using Microwave Doppler Radar (InTech) (submittedVersion, cc-by)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- Ehlers-Danlos syndrome, dermatan sulfate, connective tissue diseases, glycosaminoglycan synthesis
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