| 1 | ACAN, SEMDAG
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| The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.
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| Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G.
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| Clin Dysmorphol 28(1):26-29. doi: 10.1097/MCD.0000000000000241. No abstract available.
2019
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| 2 | ACAN, FOD
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| A child with a novel ACAN missense variant mimicking a septic arthritis.
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| Florio A, Papa R, Caorsi R, Consolaro A, Gastaldi R, Gattorno M, Picco P.
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| Ital J Pediatr 45(1):148. doi: 10.1186/s13052-019-0719-6.
2019
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| 3 | ACAN
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| The Evaluation of Proteoglycan Levels and the Possible Role of ACAN Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease.
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| Yaltirik CK, Timirci-Kahraman Ö, Gulec-Yilmaz S, Ozdogan S, Atalay B, Isbir T.
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| In Vivo 33(2):413-417. doi: 10.21873/invivo.11488.
2019
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| 4 | ACAN, FBLN1
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| The matrix proteins aggrecan and fibulin-1 play a key role in determining aortic stiffness.
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| Yasmin, Maskari RA, McEniery CM, Cleary SE, Li Y, Siew K, Figg NL, Khir AW, Cockcroft JR, Wilkinson IB, O'Shaughnessy KM.
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| Sci Rep 8(1):8550. doi: 10.1038/s41598-018-25851-5.
2018
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| 5 | ACAN
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| Reduced aggrecan expression affects cardiac outflow tract development in zebrafish and is associated with bicuspid aortic valve disease in humans.
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| Rambeau P, Faure E, Théron A, Avierinos JF, Jopling C, Zaffran S, Faucherre A.
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| Int J Cardiol 249:340-343. doi: 10.1016/j.ijcard.2017.09.174. Epub 2017 Sep 24.
2017
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| 6 | ACAN
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| Novel pathogenic ACAN variants in non-syndromic short stature patients.
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| Hu X, Gui B, Su J, Li H, Li N, Yu T, Zhang Q, Xu Y, Li G, Chen Y, Qing Y; Chinese Genetic Short Stature Consortium, Li C, Luo J, Fan X, Ding Y, Li J, Wang J, Wang X, Chen S, Shen Y.
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| Clin Chim Acta 469:126-129. doi: 10.1016/j.cca.2017.04.004. Epub 2017 Apr 7.
2017
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| 7 | ACAN
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| Single Nucleotide Variants of Candidate Genes in Aggrecan Metabolic Pathway Are Associated with Lumbar Disc Degeneration and Modic Changes.
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| Perera RS, Dissanayake PH, Senarath U, Wijayaratne LS, Karunanayake AL, Dissanayake VH.
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| PLoS One 12(1):e0169835. doi: 10.1371/journal.pone.0169835. eCollection 2017.
2017
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| 8 | ACAN, SEMDAG
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| Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
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| Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A.
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| J Clin Endocrinol Metab 102(2):460-469. doi: 10.1210/jc.2016-3313.
2017
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| 9 | ACAN
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| ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment.
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| van der Steen M, Pfundt R, Maas SJWH, Bakker-van Waarde WM, Odink RJ, Hokken-Koelega ACS.
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| J Clin Endocrinol Metab 102(5):1458-1467. doi: 10.1210/jc.2016-2941.
2017
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| 10 | ACAN, SOX9
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| Acetylation reduces SOX9 nuclear entry and ACAN gene transactivation in human chondrocytes.
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| Bar Oz M, Kumar A, Elayyan J, Reich E, Binyamin M, Kandel L, Liebergall M, Steinmeyer J, Lefebvre V, Dvir-Ginzberg M.
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| Aging Cell 15(3):499-508. doi: 10.1111/acel.12456. Epub 2016 Feb 22. Erratum in: Aging Cell. 2017 Aug;16(4):900.
2016
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| 11 | ACAN
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| Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
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| Quintos JB, Guo MH, Dauber A.
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| J Pediatr Endocrinol Metab 28(7-8):927-32. doi: 10.1515/jpem-2014-0450.
2015
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| 12 | ACAN, NPPB, SHOX2
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| NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.
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| Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE.
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| PLoS One 9(1):e83104. doi: 10.1371/journal.pone.0083104. eCollection 2014.
2014
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| 13 | ACAN, SEDMA
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| Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
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| Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, Dauber A.
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| J Clin Endocrinol Metab 99(8):E1510-8. doi: 10.1210/jc.2014-1332. Epub 2014 Apr 24.
2014
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| 14 | ACAN, TNR
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| Aggrecan, link protein and tenascin-R are essential components of the perineuronal net to protect neurons against iron-induced oxidative stress.
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| Suttkus A, Rohn S, Weigel S, Glöckner P, Arendt T, Morawski M.
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| Cell Death Dis 5:e1119. doi: 10.1038/cddis.2014.25.
2014
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| 15 | ACAN
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| Aggrecan is required for growth plate cytoarchitecture and differentiation.
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| Lauing KL, Cortes M, Domowicz MS, Henry JG, Baria AT, Schwartz NB.
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| Dev Biol 396(2):224-36. doi: 10.1016/j.ydbio.2014.10.005. Epub 2014 Oct 18.
2014
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| 16 | ACAN, IL6, MMP13
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| Interleukin 6 mediates selected effects of Notch in chondrocytes.
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| Zanotti S, Canalis E.
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| Osteoarthritis Cartilage 21(11):1766-73. doi: 10.1016/j.joca.2013.08.010. Epub 2013 Aug 14.
2013
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| 17 | ACAN, SOX9
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| Multiple enhancers associated with ACAN suggest highly redundant transcriptional regulation in cartilage.
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| Hu G, Codina M, Fisher S.
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| Matrix Biol 31(6):328-37. doi: 10.1016/j.matbio.2012.06.001. Epub 2012 Jul 20.
2012
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| 18 | ACAN
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| Aggrecan: Beyond cartilage and into the brain.
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| Morawski M, Brückner G, Arendt T, Matthews RT.
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| Int J Biochem Cell Biol 44(5):690-3. doi: 10.1016/j.biocel.2012.01.010. Epub 2012 Jan 25. Review.
2012
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| 19 | ACAN
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| Human growth plate contains aggrecan fragments that can be generated by m-calpain.
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| Inoue T, Suzuki K, Maehara H, Shimizu K.
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| Connect Tissue Res 52(3):235-41. doi: 10.3109/03008207.2010.523802. Epub 2010 Nov 30.
2011
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| 20 | ACAN
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| The association of aggrecan gene polymorphism with the risk of intervertebral disc degeneration.
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| Kim NK, Shin DA, Han IB, Yoo EH, Kim SH, Chung SS.
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| Acta Neurochir (Wien) 153(1):129-33. doi: 10.1007/s00701-010-0831-2. Epub 2010 Oct 10.
2011
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| 21 | ACAN, FOD
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| A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
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| Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegård D, Aspberg A.
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| Am J Hum Genet 86(2):126-37. Epub 2010 Feb 4.PMID: 20137779 2010
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| 22 | ACAN
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| Calpain is involved in C-terminal truncation of human aggrecan.
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| Struglics A, Hansson M.
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| Biochem J 430(3):531-8.
2010
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| 23 | ACAN
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| Lumbar disk degeneration disease and aggrecan gene polymorphism in northern Iran.
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| Mashayekhi F, Shafiee G, Kazemi M, Dolati P.
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| Biochem Genet 48(7-8):684-9. doi: 10.1007/s10528-010-9350-3. Epub 2010 May 23.
2010
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| 24 | ACAN, CTGF
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| N-terminal domains of CCN family 2/connective tissue growth factor bind to aggrecan.
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| Aoyama E, Hattori T, Hoshijima M, Araki D, Nishida T, Kubota S, Takigawa M.
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| Biochem J 420(3):413-20.
2009
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| 25 | ACAN, SEDMA
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| A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
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| Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D.
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| Am J Hum Genet 84(1):72-9. Epub 2008 Dec 24. 2009
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| 26 | ACAN, SEDMA
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| A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis.
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| Gleghorn L, Ramesar R, Beighton P, Wallis G.
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| Am J Hum Genet 77(3):484-90. Epub 2005 Jul 22. 2005
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| 27 | ACAN,SOX9
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| SOX9 enhances aggrecan gene promoter/enhancer activity and is up-regulated by retinoic acid in a cartilage-derived cell line, TC6.
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| Sekiya I, Tsuji K, Koopman P, Watanabe H, Yamada Y, Shinomiya K, Nifuji A, Noda M.
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| J Biol Chem 275(15):10738-44. 2000
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| 28 | ACAN,ADAMTS1
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| ADAMTS-1 cleaves a cartilage proteoglycan, aggrecan.
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| Kuno K, Okada Y, Kawashima H, Nakamura H, Miyasaka M, Ohno H, Matsushima K.
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| FEBS Lett 478(3):241-5. 2000
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| 29 | ACAN
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| A human-specific polymorphism in the coding region of the Aggrecan gene.
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| Doege KJ, Coulter SN, Meek LM, Maslen K, Wood JG.
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| J Biol Chem 272(21):13974-9. 1997
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| 30 | ACAN
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| Species-specific alternative splicing of the epidermal growth factor-like domain 1 of cartilage aggrecan.
|
| Fulop C, Cs-Szabo G, Glant TT.
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| Biochem J 319 ( Pt 3):935-40. 1996
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| 31 | ACAN,CSPG4
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| Molecular cloning of a human melanoma-associated chondroitin sulfate proteoglycan.
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| Pluschke G, Vanek M, Evans A, Dittmar T, Schmid P, Itin P, Filardo EJ, Reisfeld RA.
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| Proc Natl Acad Sci U S A 93(18):9710-5. 1996
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| 32 | ACAN
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| Structure of the human aggrecan gene : exon-intron organization and association with the protein domains.
|
| Valhmu WB, et al.
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| Biochem J 309 : 535-542. 1995
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| 33 | ACAN,HSD17B1
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| Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21.
|
| Rommens JM, et al.
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| Genomics 28 : 530-542. 1995
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| 34 | ACAN
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| Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene.
|
| Watanabe H, et al.
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| Nat Genet 7 : 154-157. 1994
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| 35 | ACAN
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| Length variation in the keratan sulfate domain of mammalian aggrecan.
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| Barry FP, Neame PJ, Sasse J, Pearson D.
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| Matrix Biol 14(4):323-8. 1994
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| 36 | ACAN
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| Assignment of the human aggrecan gene AGC1 to 15q25-q26.2 by in situ hybridization.
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| Just W, et al.
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| Hum Genet 92 : 516-518. 1993
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| 37 | ACAN
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| cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia.
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| Li H, et al.
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| J Biol Chem 268 : 23504-23511. 1993
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| 38 | ACAN
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| Assignment of the human aggrecan gene (AGC1) to 15q26 using fluorescence in situ hybridization analysis.
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| Korenberg JR, et al.
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| Genomics 16 : 546-548. 1993
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| 39 | ACAN
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| Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan.
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| Doege KJ, et al.
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| J Biol Chem 266 : 894-902. 1991
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| 40 | ACAN
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| Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.
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| Finkelstein JE, et al.
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| Am J Hum Genet 48 : 97-102. 1991
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| 41 | ACAN,SLC25A3
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| Loss of heterozygosity suggests tumor supressor gene responsible for primary hepatocellular carcinoma.
|
| Buetow KH, et al.
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| Proc Natl Acad Sci U S A 86 : 8852-8856. 1989
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| 42 | ACAN
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| A new epidermal growth factor-like domain in the human core protein for the large cartilage-specific proteoglycan. Evidence for alternative splicing of the domain.
|
| Baldwin CT, Reginato AM, Prockop DJ.
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| J Biol Chem 264(27):15747-50. 1989
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| 43 | ACAN, CD59, FNRBL, ITGA3, MSK10, MSK14, MSK22, MSK24, MSK28, MSK29, MSK33, MSK35, MSK37, MSK38, MSK41, ITGAV, SLC3A2
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| Definition of selectable cell surface markers for human chromosomes and chromosome segments in rodent-human hybrids.
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| Rettig WJ, et al.
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| Somat Cell Mol Genet 14 : 223-231. 1988
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| 44 | ACAN, SRGN
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| Human melanoma proteoglycan : expression in hybrids controlled by intrinsic and extrinsic signals.
|
| Rettig WJ, et al.
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| Science 231 : 1281-1284. 1986
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| 45 | ACAN,BCAM,FNRBL,ITGA1,ITGA3,MSK1,MSK10,MSK11,MSK13,MSK14,MSK2,MSK20,MSK9
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| Somatic cell genetic analysis of human cell surface antigens: chromosomal assignments and regulation of expression in rodent-human hybrid cells.
|
| Rettig WJ, Dracopoli NC, Goetzger TA, Spengler BA, Biedler JL, Oettgen HF,Old LJ.
|
| Proc Natl Acad Sci U S A 81(20):6437-41. 1984
|