Literature DB >> 20649799

Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.

M O'Connell1, N P Burrows, M J J van Vlijmen-Willems, S M Clark, J Schalkwijk.   

Abstract

Tenascin-X is a large extracellular matrix glycoprotein that is widely distributed within connective tissues and is associated with an autosomal recessive type of Ehlers-Danlos syndrome (EDS). Tenascin-X represents the first EDS susceptibility gene that does not code for a fibrillar collagen or collagen-processing enzyme. We describe a paediatric case of tenascin-X deficiency and review the literature.
© 2010 The Authors. BJD © 2010 British Association of Dermatologists.

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Year:  2010        PMID： 20649799     DOI： 10.1111/j.1365-2133.2010.09949.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


  9 in total

Review 1.  Matricellular proteins in drug delivery: Therapeutic targets, active agents, and therapeutic localization.

Authors:  Andrew J Sawyer; Themis R Kyriakides
Journal:  Adv Drug Deliv Rev       Date:  2016-01-04       Impact factor: 15.470

2.  Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012.

Authors:  Karin Mayer; Ingo Kennerknecht; Beat Steinmann
Journal:  Eur J Hum Genet       Date:  2012-08-15       Impact factor: 4.246

3.  Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

Authors:  Deborah P Merke; Wuyan Chen; Rachel Morissette; Zhi Xu; Carol Van Ryzin; Vandana Sachdev; Hwaida Hannoush; Sujata M Shanbhag; Ana T Acevedo; Miki Nishitani; Andrew E Arai; Nazli B McDonnell
Journal:  J Clin Endocrinol Metab       Date:  2013-01-02       Impact factor: 5.958

Review 4.  Postural tachycardia syndrome: a heterogeneous and multifactorial disorder.

Authors:  Eduardo E Benarroch
Journal:  Mayo Clin Proc       Date:  2012-11-01       Impact factor: 7.616

Review 5.  Transcriptional regulation of tenascin genes.

Authors:  Francesca Chiovaro; Ruth Chiquet-Ehrismann; Matthias Chiquet
Journal:  Cell Adh Migr       Date:  2015       Impact factor: 3.405

6.  Suppression of hepatic dysfunction in tenascin‑X‑deficient mice fed a high‑fat diet.

Authors:  Shinsaku Yamaguchi; Kohei Kawakami; Kazumi Satoh; Naoki Fukunaga; Kazuhito Akama; Ken-Ichi Matsumoto
Journal:  Mol Med Rep       Date:  2017-07-21       Impact factor: 2.952

7.  Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.

Authors:  Daisy Rymen; Marco Ritelli; Nicoletta Zoppi; Valeria Cinquina; Cecilia Giunta; Marianne Rohrbach; Marina Colombi
Journal:  Genes (Basel)       Date:  2019-10-25       Impact factor: 4.096

Review 8.  Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review.

Authors:  Hiroki Ishiguro; Hideaki Yagasaki; Yasue Horiuchi
Journal:  Front Psychiatry       Date:  2022-01-11       Impact factor: 4.157

9.  Extracellular Matrix Remodeling During Palate Development.

Authors:  Xia Wang; Chunman Li; Zeyao Zhu; Li Yuan; Wood Yee Chan; Ou Sha
Journal:  Organogenesis       Date:  2020-03-31       Impact factor: 2.500
  9 in total

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