HSPG2 Gene

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1		Dean Liu	+ 449 word(s)	449	2020-12-15 07:56:58

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Liu, D. HSPG2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4121 (accessed on 29 September 2026).

Liu D. HSPG2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4121. Accessed September 29, 2026.

Liu, Dean. "HSPG2 Gene" Encyclopedia, https://encyclopedia.pub/entry/4121 (accessed September 29, 2026).

Liu, D. (2020, December 23). HSPG2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4121

Liu, Dean. "HSPG2 Gene." Encyclopedia. Web. 23 December, 2020.

HSPG2 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/hspg2

Heparan sulfate proteoglycan 2

genes

References

Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA,Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S,Dalakas MC, Yamada Y. Structural and functional mutations of the perlecan genecause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am JHum Genet. 2002 May;70(5):1368-75.
Arikawa-Hirasawa E, Wilcox WR, Le AH, Silverman N, Govindraj P, Hassell JR,Yamada Y. Dyssegmental dysplasia, Silverman-Handmaker type, is caused byfunctional null mutations of the perlecan gene. Nat Genet. 2001 Apr;27(4):431-4.
Arikawa-Hirasawa E, Wilcox WR, Yamada Y. Dyssegmental dysplasia,Silverman-Handmaker type: unexpected role of perlecan in cartilage development.Am J Med Genet. 2001 Winter;106(4):254-7. Review.
Ladhani NN, Chitayat D, Nezarati MM, Laureane MC, Keating S, Silver RJ, Unger S, Velsher L, Sirkin W, Toi A, Glanc P. Dyssegmental dysplasia,Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.Prenat Diagn. 2013 Nov;33(11):1039-43. doi: 10.1002/pd.4193.
Melrose J, Hayes AJ, Whitelock JM, Little CB. Perlecan, the "jack of alltrades" proteoglycan of cartilaginous weight-bearing connective tissues.Bioessays. 2008 May;30(5):457-69. doi: 10.1002/bies.20748. Review.
Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, HamidaCB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F,Weissenbach J, Hentati F, Fontaine B. Perlecan, the major proteoglycan ofbasement membranes, is altered in patients with Schwartz-Jampel syndrome(chondrodystrophic myotonia). Nat Genet. 2000 Dec;26(4):480-3.
Stum M, Davoine CS, Fontaine B, Nicole S. Schwartz-Jampel syndrome andperlecan deficiency. Acta Myol. 2005 Oct;24(2):89-92. Review.
Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ,Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC,Fontaine B, Nicole S. Spectrum of HSPG2 (Perlecan) mutations in patients withSchwartz-Jampel syndrome. Hum Mutat. 2006 Nov;27(11):1082-91.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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