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Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.
Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A. Marino R, et al. Front Endocrinol (Lausanne). 2022 Feb 25;13:803226. doi: 10.3389/fendo.2022.803226. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35282436 Free PMC article. Review.
Other duplicated genes are C4A and C4B, that encode two isoforms of complement factor C4, the RP1 gene that encodes a serine/threonine protein kinase, and the TNXB gene that, encodes the extracellular matrix glycoprotein tenascin-X (TNX). TNX plays a role in collage …
Other duplicated genes are C4A and C4B, that encode two isoforms of complement factor C4, the RP1 gene that encodes a serine/threonine prote …
CAH-X Syndrome: Genetic and Clinical Profile.
Concolino P, Falhammar H. Concolino P, et al. Mol Diagn Ther. 2022 May;26(3):293-300. doi: 10.1007/s40291-022-00588-0. Epub 2022 Apr 27. Mol Diagn Ther. 2022. PMID: 35476220 Review.
The term CAH-X was coined to describe a subset of patients with 21-hydroxylase deficiency displaying a phenotype compatible with the hypermobility type of Ehlers Danlos syndrome. ...The result is a chimeric TNXA/TNXB gene causing tenascin-X …
The term CAH-X was coined to describe a subset of patients with 21-hydroxylase deficiency displaying a phenotype compatible with the …
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.
Miller WL, Merke DP. Miller WL, et al. Horm Res Paediatr. 2018;89(5):352-361. doi: 10.1159/000481911. Epub 2018 May 7. Horm Res Paediatr. 2018. PMID: 29734195 Free PMC article. Review.
The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). …
The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TN …
Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.
O'Connell M, Burrows NP, van Vlijmen-Willems MJ, Clark SM, Schalkwijk J. O'Connell M, et al. Br J Dermatol. 2010 Dec;163(6):1340-5. doi: 10.1111/j.1365-2133.2010.09949.x. Br J Dermatol. 2010. PMID: 20649799 Review.
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). ...We describe a paediatric case of tenascin- …
Tenascin-X is a large extracellular matrix glycoprotein that is widely distributed within connective tissues and is associated …
Connective tissues: signalling by tenascins.
Chiquet-Ehrismann R, Tucker RP. Chiquet-Ehrismann R, et al. Int J Biochem Cell Biol. 2004 Jun;36(6):1085-9. doi: 10.1016/j.biocel.2004.01.007. Int J Biochem Cell Biol. 2004. PMID: 15094123 Review.
Thus, integrin and syndecan signalling is influenced by tenascin-C and the levels and/or activies of several proteins involved in intracellular signalling pathways are regulated by its presence. Tenascin-X is important for the proper deposition of collagen fibers in …
Thus, integrin and syndecan signalling is influenced by tenascin-C and the levels and/or activies of several proteins involved in intracellu …
Tenascins: regulation and putative functions during pathological stress.
Chiquet-Ehrismann R, Chiquet M. Chiquet-Ehrismann R, et al. J Pathol. 2003 Jul;200(4):488-99. doi: 10.1002/path.1415. J Pathol. 2003. PMID: 12845616 Review.
The article is divided into the following sections: INTRODUCTION: the tenascin family of extracellular matrix proteins; Structural roles: tenascin-X deficiency and Ehlers-Danlos syndrome; Tenascins as modulators of cell adhesion, migratio …
The article is divided into the following sections: INTRODUCTION: the tenascin family of extracellular matrix proteins; Structural roles: …