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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
TNXB
gene.
Entrez
Gene
Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest. 2001 May;107(9):1063-9. Review.
PubMed citation
Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest. 2001 May;107(9):1063-9. Review.
PubMed citation
Mao JR, Taylor G, Dean WB, Wagner DR, Afzal V, Lotz JC, Rubin EM, Bristow J. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nat Genet. 2002 Apr;30(4):421-5. Epub 2002 Mar 4.
PubMed citation
Minamitani T, Ikuta T, Saito Y, Takebe G, Sato M, Sawa H, Nishimura T, Nakamura F, Takahashi K, Ariga H, Matsumoto K. Modulation of collagen fibrillogenesis by tenascin-X and type VI collagen. Exp Cell Res. 2004 Aug 1;298(1):305-15.
PubMed citation
Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001 Oct 18;345(16):1167-75.
PubMed citation
Uitto J, Ringpfeil F. Ehlers-Danlos syndrome-molecular genetics beyond the collagens. J Invest Dermatol. 2004 Apr;122(4):xii-xiii.
PubMed citation
Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet. 2003 Jul;73(1):214-7.
PubMed citation
Zweers MC, Dean WB, van Kuppevelt TH, Bristow J, Schalkwijk J. Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. Clin Genet. 2005 Apr;67(4):330-4.
PubMed citation
Zweers MC, Hakim AJ, Grahame R, Schalkwijk J. Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects. Arthritis Rheum. 2004 Sep;50(9):2742-9. Review.
PubMed citation
Zweers MC, Kucharekova M, Schalkwijk J. Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome? Ann Rheum Dis. 2005 Mar;64(3):504-5.
PubMed citation
Zweers MC, van Vlijmen-Willems IM, van Kuppevelt TH, Mecham RP, Steijlen PM, Bristow J, Schalkwijk J. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol. 2004 Apr;122(4):885-91.
PubMed citation
Reviewed: May 2006
Published: May 20, 2013
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