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Items: 1 to 20 of 27

1.
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
Marco Ritelli, Valeria Cinquina, Marina Venturini, Letizia Pezzaioli, Anna Maria Formenti, Nicola Chiarelli, Marina Colombi
Genes (Basel) 2019 Feb; 10(2): 135. Published online 2019 Feb 12. doi: 10.3390/genes10020135
PMCID:
PMC6410021
AbstractArticlePDF–2.3M
2.
Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system
Tomomi Yamaguchi, Kazuo Yamada, So Nagai, Toshiya Nishikubo, Norimichi Koitabashi, Masako Minami-Hori, Masaaki Matsushima, Yuka Shibata, Hiroki Ishiguro, Hiromi Sanai, Tomomi Fujikawa, Yuri Takiguchi, Ken-Ichi Matsumoto, Tomoki Kosho
Front Genet. 2023; 14: 1234804. Published online 2023 Aug 30. doi: 10.3389/fgene.2023.1234804
PMCID:
PMC10498456
AbstractArticlePDF–3.2M
3.
Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature
Tomomi Yamaguchi, Shujiro Hayashi, So Nagai, Akihiko Uchiyama, Sei-Ichiro Motegi, Tomomi Fujikawa, Yuri Takiguchi, Tomoki Kosho
Front Genet. 2023; 14: 1102101. Published online 2023 May 5. doi: 10.3389/fgene.2023.1102101
PMCID:
PMC10196838
AbstractArticlePDF–1.7M
4.
Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
Chloe Angwin, Neeti Ghali, Fleur Stephanie van Dijk
Front Genet. 2023; 14: 1148224. Published online 2023 Apr 18. doi: 10.3389/fgene.2023.1148224
PMCID:
PMC10151747
AbstractArticlePDF–3.5M
5.
Tenascin-X as a causal gene for classical-like Ehlers-Danlos syndrome
Emiko Okuda-Ashitaka, Ken-ichi Matsumoto
Front Genet. 2023; 14: 1107787. Published online 2023 Mar 15. doi: 10.3389/fgene.2023.1107787
PMCID:
PMC10050494
AbstractArticlePDF–1.1M
6.
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant
Daisy Rymen, Marco Ritelli, Nicoletta Zoppi, Valeria Cinquina, Cecilia Giunta, Marianne Rohrbach, Marina Colombi
Genes (Basel) 2019 Nov; 10(11): 843. Published online 2019 Oct 25. doi: 10.3390/genes10110843
PMCID:
PMC6895888
AbstractArticlePDF–1.8M
7.
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome
Lucia Micale, Vito Guarnieri, Bartolomeo Augello, Orazio Palumbo, Emanuele Agolini, Valentina Maria Sofia, Tommaso Mazza, Antonio Novelli, Massimo Carella, Marco Castori
Genes (Basel) 2019 Dec; 10(12): 967. Published online 2019 Nov 25. doi: 10.3390/genes10120967
PMCID:
PMC6947605
AbstractArticlePDF–1.1M
8.
Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases
Zong Yi Ha, Chieko Chijiwa, Suzanne Lewis
Genes (Basel) 2024 Apr; 15(4): 461. Published online 2024 Apr 6. doi: 10.3390/genes15040461
PMCID:
PMC11049394
AbstractArticlePDF–732K
9.
The extracellular matrix glycoprotein tenascin‐X regulates peripheral sensory and motor neurones
Rubina Aktar, Madusha Peiris, Asma Fikree, Vincent Cibert‐Goton, Maxim Walmsley, Iain R. Tough, Paulo Watanabe, Eduardo J. A. Araujo, Sahar D. Mohammed, Jean‐Marie Delalande, David C. Bulmer, S. Mark Scott, Helen M. Cox, Nicol C. Voermans, Qasim Aziz, L. Ashley Blackshaw
J Physiol. 2018 Sep 1; 596(17): 4237–4251. Published online 2018 Jul 18. doi: 10.1113/JP276300
PMCID:
PMC6117562
AbstractArticlePDF–1.4M
10.
A novel role for the extracellular matrix glycoprotein‐Tenascin‐X in gastric function
Rubina Aktar, Madusha Peiris, Asma Fikree, Simon Eaton, Stamatiki Kritas, Stephen J. Kentish, Eduardo J. A. Araujo, Cristiano Bacarin, Amanda J. Page, Nicol C. Voermans, Qasim Aziz, L. Ashley Blackshaw
J Physiol. 2019 Mar 15; 597(6): 1503–1515. Published online 2019 Jan 23. doi: 10.1113/JP277195
PMCID:
PMC6418764
AbstractArticlePDF–2.7M
11.
Mechanical allodynia in mice with tenascin-X deficiency associated with Ehlers-Danlos syndrome
Emiko Okuda-Ashitaka, Yuka Kakuchi, Hiroaki Kakumoto, Shota Yamanishi, Hiroki Kamada, Takafumi Yoshidu, Satoshi Matsukawa, Naoya Ogura, Sadahito Uto, Toshiaki Minami, Seiji Ito, Ken-ichi Matsumoto
Sci Rep. 2020; 10: 6569. Published online 2020 Apr 16. doi: 10.1038/s41598-020-63499-2
PMCID:
PMC7162960
AbstractArticlePDF–3.6M
12.
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing
Marco Ritelli, Valeria Cinquina, Marina Venturini, Marina Colombi
Mol Genet Genomic Med. 2020 Oct; 8(10): e1422. Published online 2020 Jul 28. doi: 10.1002/mgg3.1422
PMCID:
PMC7549590
AbstractArticlePDF–1.0M
13.
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome
Walter L Miller, Deborah P Merke
Horm Res Paediatr. Author manuscript; available in PMC 2019 May 7.
Published in final edited form as: Horm Res Paediatr. 2018; 89(5): 352–361. Published online 2018 May 7. doi: 10.1159/000481911
PMCID:
PMC6057477
AbstractArticlePDF–1.4M
14.
Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review
Sanne D'hondt, Tim Van Damme, Fransiska Malfait
Genet Med. 2018 Jun; 20(6): 562–573. Published online 2017 Oct 5. doi: 10.1038/gim.2017.138
PMCID:
PMC5993673
AbstractArticlePDF–353K
15.
Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum
Renee Santoreneos, Cassandra Vakulin, Melissa Ellul, Lesley Rawlings, Tristan Hardy, Nicola Poplawski
Am J Med Genet A. 2022 May; 188(5): 1583–1588. Published online 2022 Feb 6. doi: 10.1002/ajmg.a.62674
PMCID:
PMC9303620
AbstractArticlePDF–2.4M
16.
The Phenotypic Spectrum of Contiguous Deletion of CYP21A2 and Tenascin XB: Quadricuspid Aortic Valve and Other Midline Defects
Wuyan Chen, Mimi S. Kim, Sujata Shanbhag, Andrew Arai, Carol VanRyzin, Nazli B. McDonnell, Deborah P. Merke
Am J Med Genet A. Author manuscript; available in PMC 2010 Oct 25.
Published in final edited form as: Am J Med Genet A. 2009 Dec; 149A(12): 2803–2808. doi: 10.1002/ajmg.a.33092
PMCID:
PMC2963110
AbstractArticlePDF–299K
17.
Hypersensitivity of myelinated A-fibers via toll-like receptor 5 promotes mechanical allodynia in tenascin-X-deficient mice associated with Ehlers–Danlos syndrome
Hiroki Kamada, Kousuke Emura, Rikuto Yamamoto, Koichi Kawahara, Sadahito Uto, Toshiaki Minami, Seiji Ito, Ken-ichi Matsumoto, Emiko Okuda-Ashitaka
Sci Rep. 2023; 13: 18490. Published online 2023 Oct 28. doi: 10.1038/s41598-023-45638-7
PMCID:
PMC10613304
AbstractArticlePDF–2.3M
18.
Suppression of hepatic dysfunction in tenascin-X-deficient mice fed a high-fat diet
Shinsaku Yamaguchi, Kohei Kawakami, Kazumi Satoh, Naoki Fukunaga, Kazuhito Akama, Ken-Ichi Matsumoto
Mol Med Rep. 2017 Oct; 16(4): 4061–4067. Published online 2017 Jul 21. doi: 10.3892/mmr.2017.7052
PMCID:
PMC5646988
AbstractArticlePDF–1.3M
19.
Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome
Carolyn S Kaufman, Merlin G Butler
World J Med Genet. Author manuscript; available in PMC 2017 Mar 23.
Published in final edited form as: World J Med Genet. 2016 May 27; 6(2): 17–21. Published online 2016 May 27. doi: 10.5496/wjmg.v6.i2.17
PMCID:
PMC5363719
AbstractArticlePDF–165K
20.
Development and Verification of a 480 nm Blue Light Enhanced/Reduced Human-Centric LED for Light-Induced Melatonin Concentration Control
Yun Jae Eo, Sung-woo Choi, Chohui Kim, Seulgee Lee, Chulsoo Yoon, Dae Hwan Kim, Changwook Kim, Young Rag Do
ACS Omega. 2023 Dec 5; 8(48): 45547–45556. Published online 2023 Nov 21. doi: 10.1021/acsomega.3c05620
PMCID:
PMC10702291
AbstractArticlePDF–2.9M

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