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    ACAN aggrecan [ Homo sapiens (human) ]

    Gene ID: 176, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.

    Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.
    Wu Y, Xia Y, Yue C, Xin T, Wang Q, Zhang H, Shen C, Shen M, Gu Y, Shen J.

    06/12/2023
    The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs.

    The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs.
    Pękala P, Felkle D, Dykas K, Jarosz A, Elnazir P, Konopka T, Walocha JA, Dulinska-Litewka J.

    06/2/2023
    [Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene].

    [Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene].
    Feng Y, Ding S, Zhang P, Fang J, Li H, Xie M.

    03/29/2023
    Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature.

    Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature.
    Wu H, Wang C, Yu S, Ye X, Jiang Y, He P, Shan X., Free PMC Article

    02/28/2023
    Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.

    Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.
    Cao Y, Guan X, Li S, Wu N, Chen X, Yang T, Yang B, Zhao X., Free PMC Article

    05/7/2022
    Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.

    Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
    Stattin EL, Lindblom K, Struglics A, Önnerfjord P, Goldblatt J, Dixit A, Sarkar A, Randell T, Suri M, Raggio C, Davis J, Carter E, Aspberg A., Free PMC Article

    04/9/2022
    Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.

    Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.
    Wei M, Ying Y, Li Z, Weng Y, Luo X., Free PMC Article

    04/9/2022
    Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.

    Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
    Lei J, Deng H, Ran Y, Lv Y, Amhare AF, Wang L, Guo X, Han J, Lammi MJ., Free PMC Article

    04/2/2022
    Blood and urine biomarkers in osteoarthritis - an update on cartilage associated type II collagen and aggrecan markers.

    Blood and urine biomarkers in osteoarthritis - an update on cartilage associated type II collagen and aggrecan markers.
    Bay-Jensen AC, Mobasheri A, Thudium CS, Kraus VB, Karsdal MA., Free PMC Article

    02/5/2022
    Aggrecan: a new biomarker for acute type A aortic dissection.

    Aggrecan: a new biomarker for acute type A aortic dissection.
    König KC, Lahm H, Dreßen M, Doppler SA, Eichhorn S, Beck N, Kraehschuetz K, Doll S, Holdenrieder S, Kastrati A, Lange R, Krane M., Free PMC Article

    10/30/2021
    [Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene].

    [Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene].
    Wang X, Xie R, Wu H, Chen X, Wang F, Chen T, Sun H, Chen L.

    10/16/2021
    NFATc2-rearranged sarcomas: clinicopathologic, molecular, and cytogenetic study of 7 cases with evidence of AGGRECAN as a novel diagnostic marker.

    NFATc2-rearranged sarcomas: clinicopathologic, molecular, and cytogenetic study of 7 cases with evidence of AGGRECAN as a novel diagnostic marker.
    Perret R, Escuriol J, Velasco V, Mayeur L, Soubeyran I, Delfour C, Aubert S, Polivka M, Karanian M, Meurgey A, Le Guellec S, Weingertner N, Hoeller S, Coindre JM, Larousserie F, Pierron G, Tirode F, Le Loarer F.

    10/16/2021
    A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.

    A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
    Lin L, Li M, Luo J, Li P, Zhou S, Yang Y, Chen K, Weng Y, Ge X, Mireguli M, Wei H, Yang H, Li G, Sun Y, Cui L, Zhang S, Chen J, Zeng G, Xu L, Luo X, Shen Y., Free PMC Article

    10/9/2021
    Azilsartan prevented AGE-induced inflammatory response and degradation of aggrecan in human chondrocytes through inhibition of Sox4.

    Azilsartan prevented AGE-induced inflammatory response and degradation of aggrecan in human chondrocytes through inhibition of Sox4.
    Lei J, He M, Xu L, He C, Li J, Wang W.

    09/4/2021
    Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants.

    Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants.
    Gerver WJM, Gkourogianni A, Dauber A, Nilsson O, Wit JM.

    07/10/2021
    CDMP1 promotes type II collagen and aggrecan synthesis of nucleus pulposus cell via the mediation of ALK6.

    CDMP1 promotes type II collagen and aggrecan synthesis of nucleus pulposus cell via the mediation of ALK6.
    Yang Z, Gao XJ, Zhao X.

    06/26/2021
    Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review.

    Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review.
    Liang H, Miao H, Pan H, Yang H, Gong F, Duan L, Chen S, Wang L, Zhu H.

    02/2/2021
    Short stature with precocious puberty caused by aggrecan gene mutation: A case report.

    Short stature with precocious puberty caused by aggrecan gene mutation: A case report.
    Wang Y, Ge J, Ma J, Qiao L, Li T., Free PMC Article

    09/12/2020
    Isolated short stature and advanced bone age due to heterozygous aggrecan gene mutations exemplifies how this progress is changing the way we assess, counsel and treat children with non-endocrine growth disorders--{REVIEW}

    Aggrecanopathies highlight the need for genetic evaluation of ISS children.
    Nilsson O.

    07/4/2020
    ACAN pathogenic variants presented a common cause of familial idiopathic short stature.

    High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.
    Stavber L, Hovnik T, Kotnik P, Lovrečić L, Kovač J, Tesovnik T, Bertok S, Dovč K, Debeljak M, Battelino T, Avbelj Stefanija M., Free PMC Article

    02/29/2020
    Activation of G-protein-coupled bile acid receptor Gpbar1 (TGR5) inhibits degradation of type II collagen and aggrecan in human chondrocytes

    Activation of G-protein-coupled bile acid receptor Gpbar1 (TGR5) inhibits degradation of type II collagen and aggrecan in human chondrocytes.
    Zhuo W, Li B, Zhang D.

    01/18/2020
    Study of complete proteoglycanomes in the ascending aortas of normal and thoracic aortic aneurysm and dissection (TAAD) patients and in a mouse model of severe Marfan syndrome identified that massive aggrecan and versican accumulation in ascending TAAD occurs via increased synthesis and/or reduced proteolytic turnover predisposing to type-A dissections.

    Massive aggrecan and versican accumulation in thoracic aortic aneurysm and dissection.
    Cikach FS, Koch CD, Mead TJ, Galatioto J, Willard BB, Emerton KB, Eagleton MJ, Blackstone EH, Ramirez F, Roselli EE, Apte SS., Free PMC Article

    12/7/2019
    These findings suggest that aggrecan and fibulin-1 have critical roles in determining the biomechanics of the aorta and their modification with age could underpin age-related aortic stiffening.

    The matrix proteins aggrecan and fibulin-1 play a key role in determining aortic stiffness.
    Yasmin, Maskari RA, McEniery CM, Cleary SE, Li Y, Siew K, Figg NL, Khir AW, Cockcroft JR, Wilkinson IB, O'Shaughnessy KM., Free PMC Article

    10/12/2019
    Umbilical cord mesenchymal stem cell conditioned medium resumed the collagen II and aggrecan expression in nucleus pulposus mesenchymal stem cells.

    Umbilical cord mesenchymal stem cell conditioned medium restored the expression of collagen II and aggrecan in nucleus pulposus mesenchymal stem cells exposed to high glucose.
    Qi L, Wang R, Shi Q, Yuan M, Jin M, Li D.

    06/22/2019
    The frequency of all alleles and genotypes in all study groups were distributed according to the Hardy-Weinberg equilibrium. In addition, no association between the ACAN gene (c.6423T>C) variant and presence of risk factors for lumbar degenerative disc disease (LDDD) was detected.

    The Evaluation of Proteoglycan Levels and the Possible Role of ACAN Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease.
    Yaltirik CK, Timirci-Kahraman Ö, Gulec-Yilmaz S, Ozdogan S, Atalay B, Isbir T., Free PMC Article

    06/8/2019
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