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    ZIC3 Zic family member 3 [ Homo sapiens (human) ]

    Gene ID: 7547, updated on 10-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    ZIC2 and ZIC3 promote SWI/SNF recruitment to safeguard progression towards human primed pluripotency.

    ZIC2 and ZIC3 promote SWI/SNF recruitment to safeguard progression towards human primed pluripotency.
    Hossain I, Priam P, Reynoso SC, Sahni S, Zhang XX, Côté L, Doumat J, Chik C, Fu T, Lessard JA, Pastor WA., Free PMC Article

    10/8/2024
    Zic family member 3 attenuates oxidative stress-induced vascular smooth muscle cell apoptosis in patients with chronic kidney disease.

    Zic family member 3 attenuates oxidative stress-induced vascular smooth muscle cell apoptosis in patients with chronic kidney disease.
    Gao J, Liu L, Wu Z, Gan H.

    01/26/2024
    A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect.

    A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect.
    Wang Y, Dai X, Liu H, Peng J, Chen J.

    08/7/2023
    Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.

    Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
    Trimouille A, Tingaud-Sequeira A, Lacombe D, Duelund Hjortshøj T, Kreiborg S, Buciek Hove H, Rooryck C.

    07/3/2021
    This study characterized cis-regulatory elements required for Zic3 expression.

    An Evolutionarily Conserved Mesodermal Enhancer in Vertebrate Zic3.
    Odaka YS, Tohmonda T, Toyoda A, Aruga J., Free PMC Article

    10/26/2019
    The results of functional indicated that this ZIC3 mutation decreases transcriptional activity, affects the affinity of the GLI-binding site and results in aberrant cellular localization in transfected cells.

    A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
    Li S, Liu S, Chen W, Yuan Y, Gu R, Song Y, Li J, Cao Y, Lin Y, Xu J, Wang H, Ma D, Ma X, Sheng W, Huang G., Free PMC Article

    10/26/2019
    miR-155-5p inhibits the viability of vascular smooth muscle cell via targeting FOS and ZIC3 to promote aneurysm formation

    miR-155-5p inhibits the viability of vascular smooth muscle cell via targeting FOS and ZIC3 to promote aneurysm formation.
    Zhao L, Ouyang Y, Bai Y, Gong J, Liao H.

    09/14/2019
    current understanding of ZIC3 function and describe the potential role ZIC3 plays in important signalling pathways and their links to heterotaxy.

    ZIC3 in Heterotaxy.
    Bellchambers HM, Ware SM., Free PMC Article

    07/14/2018
    Six novel pathogenic variants were identified in either male patients with heterotaxy or a female patient with multiple male deaths due to heterotaxy in the family. Truncating variants showed abnormal trafficking of mutated ZIC3 proteins.

    Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
    Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, Brunner HG, Smeets HJ, Bakkers J, van den Wijngaard A., Free PMC Article

    07/15/2017
    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
    Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F., Free PMC Article

    08/20/2016
    detected the expression level of miR-564 and ZIC3 protein in tissue specimens, and found a significant negative correlation between them. Patients with low levels of miR-564 showed a poorer overall survival

    MiR-564 functions as a tumor suppressor in human lung cancer by targeting ZIC3.
    Yang B, Jia L, Guo Q, Ren H, Hu D, Zhou X, Ren Q, Hu Y, Xie T.

    03/19/2016
    ZIC3 sequencing from unrelated patients with heterotaxy and congenital heart disease identified variants in 5.2% of sporadic male cases some of which were novel. Functional analyses show aberrant cytoplasmic localization.

    Genetic and functional analyses of ZIC3 variants in congenital heart disease.
    Cowan J, Tariq M, Ware SM., Free PMC Article

    08/9/2014
    sumoylation targets human ZIC3 primarily on the consensus lysine residue K248, which is critical for the nuclear retention of ZIC3.

    Sumoylation regulates nuclear localization and function of zinc finger transcription factor ZIC3.
    Chen L, Ma Y, Qian L, Wang J.

    03/1/2014
    Case Reports: situs inversus totalis and X-linked heterotaxy as a result of novel ZIC3 mutation.

    Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.
    D'Alessandro LC, Casey B, Siu VM.

    10/19/2013
    ZIC3 mutations are an important etiology in sporadic and familial heterotaxy.

    The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
    D'Alessandro LC, Latney BC, Paluru PC, Goldmuntz E., Free PMC Article

    09/14/2013
    Mutations in Zinc Finger Protein of the Cerebellum 3 were identified in 4 of the 47 patients (8.5%) with heterotaxy syndrome. Our results expand the mutation spectrum of monogenic heterotaxy syndrome with associated cardiac anomalies.

    Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.
    Ma L, Selamet Tierney ES, Lee T, Lanzano P, Chung WK., Free PMC Article

    06/30/2012
    Data show that transcript, termed Zic3-B, encompasses exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3.

    Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.
    Bedard JE, Haaning AM, Ware SM., Free PMC Article

    02/18/2012
    Disruption of Gli3-Zic3 interaction in the critical period for ventral body wall formation may contribute to omphalocele phenotype in Cd chick model.

    Disruption of GLI3-ZIC3 interaction in the cadmium-induced omphalocele chick model.
    Doi T, Puri P, Bannigan J, Thompson J.

    05/28/2011
    results indicate that ZIC3 is imported into the cell nucleus by the Karyopherin (Importin) system and that the impaired nuclear localization by the ZF1 mutation is not due to a direct influence on the nuclear localization signal

    Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.
    Hatayama M, Tomizawa T, Sakai-Kato K, Bouvagnet P, Kose S, Imamoto N, Yokoyama S, Utsunomiya-Tate N, Mikoshiba K, Kigawa T, Aruga J., Free PMC Article

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.
    Klootwijk R, Groenen P, Schijvenaars M, Hol F, Hamel B, Straatman H, Steegers-Theunissen R, Mariman E, Franke B.

    Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations.
    Zhu H, Junker WM, Finnell RH, Brown S, Shaw GM, Lammer EJ, Canfield M, Hendricks K.

    03/13/2008
    in vitro interactions of ZIC3 with GLI3 and the effect of ZIC3 mutations identified in patients with either heterotaxy or isolated cardiovascular malformations.

    Characterization of the interactions of human ZIC3 mutants with GLI3.
    Zhu L, Zhou G, Poole S, Belmont JW.

    01/21/2010
    ZIC3 has a role in regulating cardiac gene expression

    Identification of a novel role of ZIC3 in regulating cardiac development.
    Zhu L, Harutyunyan KG, Peng JL, Wang J, Schwartz RJ, Belmont JW.

    01/21/2010
    Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.

    Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.
    Bedard JE, Purnell JD, Ware SM.

    01/21/2010
    Results suggest that Zic3 plays a role in intra-retinal axon targeting, possibly through regulation of the expression of specific downstream genes involved in axon guidance.

    Disruption of gradient expression of Zic3 resulted in abnormal intra-retinal axon projection.
    Zhang J, Jin Z, Bao ZZ.

    01/21/2010
    ZIC3 mutations in three classic heterotaxy kindreds and two sporadic congenital heart defect cases

    Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
    Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW., Free PMC Article

    01/21/2010
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