Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.
Satoh C, Kondoh T, Shimizu H, Kinoshita A, Mishima H, Nishimura G, Miyazaki M, Okano K, Kumai Y, Yoshiura KI.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J, Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center, Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR., Free PMC Article

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.
Amlie-Wolf L, Moyer-Harasink S, Carr AM, Giampietro P, Schneider A, Simon M.

First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.
Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles GA.

Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank.
Meng W, Adams MJ, Palmer CNA, 23andMe Research Team, Shi J, Auton A, Ryan KA, Jordan JM, Mitchell BD, Jackson RD, Yau MS, McIntosh AM, Smith BH., Free PMC Article

Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach.
Gibbon A, Saunders CJ, Collins M, Gamieldien J, September AV., Free PMC Article

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.
Kotabagi S, Shah H, Shukla A, Girisha KM.

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
Gariballa N, Ben-Mahmoud A, Komara M, Al-Shamsi AM, John A, Ali BR, Al-Gazali L.

Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome.
Liu S, Yu X, Xu Q, Cui J, Yi M, Zhang X, Ge Y, Ma X., Free PMC Article

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT., Free PMC Article

Genome-wide association study of Tourette's syndrome.
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, North American Brain Expression Consortium, Hardy J, UK Human Brain Expression Database, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL., Free PMC Article

Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations.
Saunders CJ, van der Merwe L, Posthumus M, Cook J, Handley CJ, Collins M, September AV.

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML., Free PMC Article

The new collagen gene COL27A1 contains SOX9-responsive enhancer elements.
Jenkins E, Moss JB, Pace JM, Bridgewater LC., Free PMC Article

A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family.
Boot-Handford RP, Tuckwell DS, Plumb DA, Rock CF, Poulsom R.

Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.
Pace JM, Corrado M, Missero C, Byers PH.