The Ehlers-Danlos syndrome: on beyond collagens
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II) Skin and joint hypermobility, atrophic scars, easy bruising Autosomal dominant COL5A1, COL5A2 Hypermobility (III) Joint hypermobility, pain, dislocations Autosomal dominant Unknown Vascular (IV) Thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility Autosomal dominant COL3A1 Kyphoscoliosis (VI) Hypotonia, joint laxity, congenital scoliosis, ocular fragility Autosomal recessive Lysyl-hydroxylase Arthrochalasia (VIIa,b) Severe joint hypermobility, skin mild, scoliosis, bruising Autosomal dominant COL1A1, COL1A2 Dermatosparaxsis(VIIc) Severe skin fragility, cutis laxa, bruising Autosomal recessive Procollagen N-peptidase
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TNX is highly expressed in connective tissue of muscle, around tendons, ligaments, and in skin.
“Although the precise function of TNX is unknown, it is known to play a role in the ECM as it is highly expressed in connective tissue of muscle, around tendons, ligaments, and in skin [Mao and Bristow, 2001].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Mao and Bristow, 2001
Classical-like EDS is caused by a complete lack of TNX due to homozygous or compound heterozygous TNXB mutations that lead to nonsense-mediated mRNA decay, or biallelic deletion of TNXB.
“Classical-like EDS is caused by a complete lack of TNX due to homozygous or compound heterozygous TNXB mutations, that lead to nonsense-mediated mRNA decay (NMD), or biallelic deletion of TNXB.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Mao and Bristow, 2001
TNX is one of the three known large matricellular proteins of the tenascin family.
“TNX is one of the three known large matricellular proteins of the tenascin family [Mao and Bristow, 2001;Valcourt et al., 2015].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Mao and Bristow, 2001
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References 43 · Cited by 233
- Authors
- Mao, J.-R., & Bristow, J.
- Affiliations
- University of California, San Francisco (US)
- Corresponding author
- Bristow, James
- Venue
- Journal of Clinical Investigation
- Published
- 2001-05-01
- Volume
- 107
- Issue
- 9
- Pages
- 1063-1069
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC209288
- OpenAlex
- W2030320259
- Cited by
- 233
- References
- 43
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 7 · 2023: 12 · 2022: 5 · 2021: 5 · 2020: 11 · 2019: 8 · 2018: 5 · 2017: 9 · 2016: 9 · 2015: 11 · 2014: 7 · 2013: 11 · 2012: 7
- FWCI
- 1.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- March of Dimes Foundation
- National Institutes of Health (5k08hl002695-02)
- National Heart, Lung, and Blood Institute (HL 02695)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Keywords
- Ehlers-Danlos syndrome, connective tissue diseases, COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, lysyl hydroxylase, joint hypermobility, vascular Ehlers-Danlos syndrome, dermatosparaxis, cutis laxa, scoliosis
- MeSH terms
- Collagen, Ehlers-Danlos Syndrome, Humans, Extracellular Matrix Proteins, Tenascin
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