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Items: 1 to 20 of 144

1.

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.

Crippa M, Giangiobbe S, Villa R, Bestetti I, De Filippis T, Fatti L, Taurino J, Larizza L, Persani L, Bellini F, Finelli P, Bonati MT.

J Endocrinol Invest. 2018 Aug;41(8):929-936. doi: 10.1007/s40618-017-0819-3. Epub 2018 Jan 4.

PMID:
29302920
2.

Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain.

Perera RS, Dissanayake PH, Senarath U, Wijayaratne LS, Karunanayake AL, Dissanayake VHW.

PLoS One. 2017 Jul 24;12(7):e0181580. doi: 10.1371/journal.pone.0181580. eCollection 2017.

3.

Novel pathogenic ACAN variants in non-syndromic short stature patients.

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.

Clin Chim Acta. 2017 Jun;469:126-129. doi: 10.1016/j.cca.2017.04.004. Epub 2017 Apr 7.

PMID:
28396070
4.

CASE-REPORT Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study.

Casa NL, Casa Junior AJ, Melo AV, Teodoro LS, Nascimento GR, Sousa AF, Flausino TC, Brito D, Bergamini R, Minasi LB, da Cruz AD, Vieira TC, Curado MP.

Genet Mol Res. 2016 Dec 19;15(4). doi: 10.4238/gmr15048867.

PMID:
28002585
5.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

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.

J Clin Endocrinol Metab. 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313.

6.

ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment.

van der Steen M, Pfundt R, Maas SJWH, Bakker-van Waarde WM, Odink RJ, Hokken-Koelega ACS.

J Clin Endocrinol Metab. 2017 May 1;102(5):1458-1467. doi: 10.1210/jc.2016-2941.

PMID:
27710243
7.

Characterization and Localization of Citrullinated Proteoglycan Aggrecan in Human Articular Cartilage.

Glant TT, Ocsko T, Markovics A, Szekanecz Z, Katz RS, Rauch TA, Mikecz K.

PLoS One. 2016 Mar 4;11(3):e0150784. doi: 10.1371/journal.pone.0150784. eCollection 2016.

8.

Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing.

Ristolainen H, Kilpivaara O, Kamper P, Taskinen M, Saarinen S, Leppä S, d'Amore F, Aaltonen LA.

Br J Haematol. 2015 Aug;170(3):428-31. doi: 10.1111/bjh.13295. Epub 2015 Feb 25. No abstract available.

PMID:
25715982
9.

Aggrecan and chondroitin-6-sulfate abnormalities in schizophrenia and bipolar disorder: a postmortem study on the amygdala.

Pantazopoulos H, Markota M, Jaquet F, Ghosh D, Wallin A, Santos A, Caterson B, Berretta S.

Transl Psychiatry. 2015 Jan 20;5:e496. doi: 10.1038/tp.2014.128.

10.

The interaction between aggrecan gene VNTR polymorphism and obesity in predicting incident symptomatic lumbar disc herniation.

Cong L, Zhu Y, Pang H, Guanjun TU.

Connect Tissue Res. 2014 Oct-Dec;55(5-6):384-90. doi: 10.3109/03008207.2014.959117. Epub 2014 Sep 22.

PMID:
25188217
11.

Aggrecan variable number of tandem repeat polymorphism and lumbar disc degeneration: a meta-analysis.

Gu J, Guan F, Guan G, Xu G, Wang X, Zhao W, Ji Y, Yan J.

Spine (Phila Pa 1976). 2013 Dec 1;38(25):E1600-7. doi: 10.1097/BRS.0000000000000012.

PMID:
24296484
12.

Multiple enhancers associated with ACAN suggest highly redundant transcriptional regulation in cartilage.

Hu G, Codina M, Fisher S.

Matrix Biol. 2012 Jul;31(6):328-37. doi: 10.1016/j.matbio.2012.06.001. Epub 2012 Jul 20.

13.

Aggrecan: Beyond cartilage and into the brain.

Morawski M, Brückner G, Arendt T, Matthews RT.

Int J Biochem Cell Biol. 2012 May;44(5):690-3. doi: 10.1016/j.biocel.2012.01.010. Epub 2012 Jan 25. Review.

PMID:
22297263
14.

Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.

Eser O, Eser B, Cosar M, Erdogan MO, Aslan A, Yıldız H, Solak M, Haktanır A.

Genet Mol Res. 2011 Aug 30;10(3):1923-30. doi: 10.4238/vol10-3gmr1222.

15.

Variations in aggrecan localization and gene expression patterns characterize increasing stages of human intervertebral disk degeneration.

Gruber HE, Hoelscher GL, Ingram JA, Bethea S, Zinchenko N, Hanley EN Jr.

Exp Mol Pathol. 2011 Oct;91(2):534-9. doi: 10.1016/j.yexmp.2011.06.001. Epub 2011 Jun 12.

PMID:
21689646
16.

Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum.

Stacey MW, Neumann SA, Dooley A, Segna K, Kelly RE, Nuss D, Kuhn AM, Goretsky MJ, Fecteau AH, Pastor A, Proud VK.

Clin Genet. 2010 Nov;78(5):502-4. doi: 10.1111/j.1399-0004.2010.01492.x. No abstract available.

PMID:
21039430
17.

The association of aggrecan gene polymorphism with the risk of intervertebral disc degeneration.

Kim NK, Shin DA, Han IB, Yoo EH, Kim SH, Chung SS.

Acta Neurochir (Wien). 2011 Jan;153(1):129-33. doi: 10.1007/s00701-010-0831-2. Epub 2010 Oct 10.

PMID:
20936487
18.

Order within disorder: aggrecan chondroitin sulphate-attachment region provides new structural insights into protein sequences classified as disordered.

Jowitt TA, Murdoch AD, Baldock C, Berry R, Day JM, Hardingham TE.

Proteins. 2010 Dec;78(16):3317-27. doi: 10.1002/prot.22839.

19.
20.

Lumbar disk degeneration disease and aggrecan gene polymorphism in northern Iran.

Mashayekhi F, Shafiee G, Kazemi M, Dolati P.

Biochem Genet. 2010 Aug;48(7-8):684-9. doi: 10.1007/s10528-010-9350-3. Epub 2010 May 23.

PMID:
20496110

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