Literature DB >> 12865992

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

Manon C Zweers, Jim Bristow, Peter M Steijlen, Willow B Dean, Ben C Hamel, Marisol Otero, Martina Kucharekova, Jan B Boezeman, Joost Schalkwijk.   

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Year:  2003        PMID： 12865992      PMCID： PMC1180584          DOI： 10.1086/376564

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

Review 1.  Joint hypermobility and genetic collagen disorders: are they related?

Authors:  R Grahame
Journal:  Arch Dis Child       Date:  1999-02       Impact factor: 3.791

2.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Authors:  P Beighton; A De Paepe; B Steinmann; P Tsipouras; R J Wenstrup
Journal:  Am J Med Genet       Date:  1998-04-28

3.  Hypermobility in two Dutch school populations.

Authors:  D G Rikken-Bultman; L Wellink; P W van Dongen
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  1997-06       Impact factor: 2.435

4.  Articular mobility in an African population.

Authors:  P Beighton; L Solomon; C L Soskolne
Journal:  Ann Rheum Dis       Date:  1973-09       Impact factor: 19.103

Review 5.  Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.

Authors:  P H Byers
Journal:  J Invest Dermatol       Date:  1994-11       Impact factor: 8.551

6.  Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

Authors:  G H Burch; Y Gong; W Liu; R W Dettman; C J Curry; L Smith; W L Miller; J Bristow
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

7.  Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.

Authors:  Jau Ren Mao; Glen Taylor; Willow B Dean; Diane R Wagner; Veena Afzal; Jeffrey C Lotz; Edward M Rubin; James Bristow
Journal:  Nat Genet       Date:  2002-03-04       Impact factor: 38.330

8.  Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.

Authors:  S E Gitelman; J Bristow; W L Miller
Journal:  Mol Cell Biol       Date:  1992-05       Impact factor: 4.272

9.  A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

Authors:  P Narcisi; A J Richards; S D Ferguson; F M Pope
Journal:  Hum Mol Genet       Date:  1994-09       Impact factor: 6.150

10.  Hypermobility: features and differential incidence between the sexes.

Authors:  L G Larsson; J Baum; G S Mudholkar
Journal:  Arthritis Rheum       Date:  1987-12
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  46 in total

Review 1.  Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Authors:  Babette Peeters; Marc A Benninga; Raoul C M Hennekam
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

Review 2.  Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.

Authors:  Walter L Miller; Deborah P Merke
Journal:  Horm Res Paediatr       Date:  2018-05-07       Impact factor: 2.852

3.  Recurrent neuropathy associated with Ehlers-Danlos syndrome.

Authors:  N C Voermans; G Drost; A van Kampen; A A Gabreëls-Festen; M Lammens; B C Hamel; J Schalkwijk; B G van Engelen
Journal:  J Neurol       Date:  2005-11-29       Impact factor: 4.849

4.  High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.

Authors:  Qizong Lao; Brittany Brookner; Deborah P Merke
Journal:  J Mol Diagn       Date:  2019-06-21       Impact factor: 5.568

Review 5.  Back to basics--how the evolution of the extracellular matrix underpinned vertebrate evolution.

Authors:  Julie Huxley-Jones; John W Pinney; John Archer; David L Robertson; Raymond P Boot-Handford
Journal:  Int J Exp Pathol       Date:  2009-04       Impact factor: 1.925

6.  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

7.  Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Authors:  F Malfait; S Symoens; P Coucke; L Nunes; S De Almeida; A De Paepe
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

8.  Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.

Authors:  Takahiro Yoshizawa; Shuji Mizumoto; Yuki Takahashi; Shin Shimada; Kazuyuki Sugahara; Jun Nakayama; Shin'ichi Takeda; Yoshihiro Nomura; Yuko Nitahara-Kasahara; Takashi Okada; Kiyoshi Matsumoto; Shuhei Yamada; Tomoki Kosho
Journal:  Glycobiology       Date:  2018-02-01       Impact factor: 4.313

9.  Joint hypermobility syndrome and dysautonomia: expanding spectrum of disease presentation and manifestation.

Authors:  Shomu Bohora
Journal:  Indian Pacing Electrophysiol J       Date:  2010-04-01

Review 10.  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
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