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COL27A1 gene

Known as: COLLAGEN, TYPE XXVII, ALPHA-1, FLJ11895, MGC11337 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation
Steel syndrome was initially described by H. H. Steel in 1993 in Puerto Rico, at which time he described the clinical findings… 
2017
2017
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1
Steel syndrome is a rare disorder of the skeleton characterized by facial dysmorphism, short stature, carpal coalition… 
2017
2017
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss
Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first… 
Highly Cited
2014
Highly Cited
2014
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety… 
2013
2013
Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations
The TNC gene has previously been associated with Achilles tendinopathy (AT) in a South African population. The aims of this study… 
2009
2009
The transcription factor Lc‐Maf participates in Col27a1 regulation during chrondrocyte maturation
Highly Cited
2005
Highly Cited
2005
The new collagen gene COL27A1 contains SOX9-responsive enhancer elements.
Highly Cited
2003
Highly Cited
2003
Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.
2000
2000
Triterpene saponins from Randia formosa.
1994
1994
The Differences between Barnared's and Simon's Concepts of Organization Equilibrium:Simon's Misunderstanding about Barnard's Intention
What H. Simon named the Barnard-Simon theory is different from Barnard's intention. This difference comes directly from Simon's… 
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