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Literature DB >> 8702171

Stickler syndrome type 2 and linkage to the COL11A1 gene.

M P Snead¹, J R Yates, R Williams, S J Payne, F M Pope, J D Scott.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Collagen

Year: 1996 PMID： 8702171 DOI： 10.1111/j.1749-6632.1996.tb56300.x

Source DB: PubMed Journal: Ann N Y Acad Sci ISSN： 0077-8923 Impact factor: 5.691

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Cited

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7 in total

1. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

Authors: Guy Van Camp; Rikkert L Snoeckx; Nele Hilgert; Jenneke van den Ende; Hisakumi Fukuoka; Michio Wagatsuma; Hiroaki Suzuki; R M Erica Smets; Filip Vanhoenacker; Frank Declau; Paul Van de Heyning; Shin-ichi Usami
Journal: Am J Hum Genet Date: 2006-06-26 Impact factor: 11.025

Review 2. Dominant Stickler Syndrome.

Authors: Zack Soh; Allan J Richards; Annie McNinch; Philip Alexander; Howard Martin; Martin P Snead
Journal: Genes (Basel) Date: 2022-06-18 Impact factor: 4.141

3. Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation.

Authors: Rachel A Kahler; Sorcha M C Yingst; Luke H Hoeppner; Eric D Jensen; David Krawczak; Julia T Oxford; Jennifer J Westendorf
Journal: Matrix Biol Date: 2008-01-16 Impact factor: 11.583

Stickler syndrome type 2 and linkage to the COL11A1 gene.

1. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

Review 2. Dominant Stickler Syndrome.

3. Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation.

4. Evaluation and management of pediatric rhegmatogenous retinal detachment.

5. Upregulation of distinct collagen transcripts in post-surgery scar tissue: a study of conjunctival fibrosis.

6. A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

7. Blindness caused by deficiency in AE3 chloride/bicarbonate exchanger.