Literature DB >> 17702048

Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.

N C Voermans, G J Jenniskens, B C Hamel, J Schalkwijk, P Guicheney, B G van Engelen.   

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Year:  2007        PMID： 17702048     DOI： 10.1002/ajmg.a.31899

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  16 in total

1.  Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

Authors:  N C Voermans; M Kempers; M Lammens; N van Alfen; M C Janssen; C Bönnemann; B G van Engelen; B C Hamel
Journal:  Am J Med Genet A       Date:  2012-03-09       Impact factor: 2.802

2.  Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome.

Authors:  Rachel Morissette; Deborah P Merke; Nazli B McDonnell
Journal:  Eur J Med Genet       Date:  2013-12-28       Impact factor: 2.708

Review 3.  The collagen VI-related myopathies: muscle meets its matrix.

Authors:  Carsten G Bönnemann
Journal:  Nat Rev Neurol       Date:  2011-06-21       Impact factor: 42.937

4.  Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.

Authors:  Matteo Bovolenta; Marcella Neri; Elena Martoni; Anna Urciuolo; Patrizia Sabatelli; Marina Fabris; Paolo Grumati; Eugenio Mercuri; Enrico Bertini; Luciano Merlini; Paolo Bonaldo; Alessandra Ferlini; Francesca Gualandi
Journal:  BMC Med Genet       Date:  2010-03-19       Impact factor: 2.103

Review 5.  Vesicoureteral reflux and the extracellular matrix connection.

Authors:  Fatima Tokhmafshan; Patrick D Brophy; Rasheed A Gbadegesin; Indra R Gupta
Journal:  Pediatr Nephrol       Date:  2016-05-02       Impact factor: 3.714

6.  The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

Authors:  Wuyan Chen; Mimi S Kim; Sujata Shanbhag; Andrew Arai; Carol VanRyzin; Nazli B McDonnell; Deborah P Merke
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

7.  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 8.  Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

Authors:  N C Voermans; C G Bonnemann; B C J Hamel; H Jungbluth; B G van Engelen
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

9.  COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

Authors:  Te-Cheng Pan; Rui-Zhu Zhang; Dessislava Markova; Machiko Arita; Yejia Zhang; Sasha Bogdanovich; Tejvir S Khurana; Carsten G Bönnemann; David E Birk; Mon-Li Chu
Journal:  J Biol Chem       Date:  2013-04-05       Impact factor: 5.157

10.  Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

Authors:  Fransiska Malfait; Ariana Kariminejad; Tim Van Damme; Caroline Gauche; Delfien Syx; Faten Merhi-Soussi; Sandrine Gulberti; Sofie Symoens; Suzanne Vanhauwaert; Andy Willaert; Bita Bozorgmehr; Mohamad Hasan Kariminejad; Nazanin Ebrahimiadib; Ingrid Hausser; Ann Huysseune; Sylvie Fournel-Gigleux; Anne De Paepe
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025
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