Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/ CHST14 ) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clubfoot syndrome”
Open accessIntegrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
EDS caused by D4ST1 deficiency was initially reported as three independent conditions, ATCS, EDS Kosho Type, and musculocontractural EDS, all now concluded to be a single clinical entity.
“EDS caused by D4ST1 deficiency has initially been reported as three independent conditions: A rare type of arthrogryposis syndrome, “adducted thumbclubfoot syndrome (ATCS)”; a specific type of EDS, “EDS, Kosho Type (EDSKT)”; and a subset of kEDS without lysyl hydroxylase deficiency, “musculocontractural EDS (MCEDS),” all of which are now concluded to be a single clinical entity”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Janecke et al., 2011
Mild intellectual delay was suggested in three patients; one reportedly had global psychomotor delay in infancy, but his IQ was around 90 at the age of 7 years 2 months.
“Mild intellectual delay was suggested in three patients; one reportedly had global psychomotor delay in infancy, but his IQ was around 90 at the age of 7 years 2 months [D€ undar et al., 1997;Janecke et al., 2011].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Janecke et al., 2011
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
Kosho, 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
Flagged first, then by citations
Cited by
Sorted by citations
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
Shimizu, 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
Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37383 · Cited by 66 · 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
Genetics 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
- Janecke, A. R., Baenziger, J. U., Müller, T., & Dündar, M.
- Affiliations
- Innsbruck Medical University (AT)
- Washington University in St. Louis (US)
- Erciyes University (TR)
- Corresponding author
- Janecke, Andreas R.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2011-03-15
- Volume
- 32
- Issue
- 4
- Pages
- 484-485
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2081326831
- Cited by
- 18
- References
- 2
- Citations by year
- 2025: 1 · 2024: 1 · 2017: 1 · 2015: 5 · 2014: 1 · 2013: 3 · 2012: 3
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD058474)
- 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 › Developmental Biology › Congenital limb and hand anomalies
- Keywords
- dermatan sulfate, congenital foot deformity, glycosaminoglycan synthesis
- MeSH terms
- Abnormalities, Multiple, Clubfoot, Dermatan Sulfate, Ehlers-Danlos Syndrome, Eye Abnormalities, Humans, Joint Instability, Skin Abnormalities, Thumb, Sulfotransferases, Frameshift Mutation
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.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
