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    ALX4 ALX homeobox 4 [ Homo sapiens (human) ]

    Gene ID: 60529, updated on 12-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

    Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.
    Peled A, Sarig O, Mohamad J, Eskin-Schwartz M, Vodo D, Bochner R, Malchin N, Isakov O, Shomron N, Fainberg G, Bertolini M, Paus R, Sprecher E.

    11/15/2023
    De novo ALX4 variant detected in child with non-syndromic craniosynostosis.

    De novo ALX4 variant detected in child with non-syndromic craniosynostosis.
    Fonteles CS, Finnell RH, Lei Y, Zurita-Jimenez ME, Monteiro AJ, George TM, Harshbarger RJ.

    10/9/2021
    Variants in ALX4 and their association with genitourinary defects.

    Variants in ALX4 and their association with genitourinary defects.
    Chen CH, Bournat JC, Wilken N, Rosenfeld JA, Zhang J, Seth A, Jorgez CJ., Free PMC Article

    08/14/2021
    Overexpression of circ_0001445 decelerates hepatocellular carcinoma progression by regulating miR-942-5p/ALX4 axis.

    Overexpression of circ_0001445 decelerates hepatocellular carcinoma progression by regulating miR-942-5p/ALX4 axis.
    Xu Q, Zhou L, Yang G, Meng F, Wan Y, Wang L, Zhang L.

    07/31/2021
    Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

    Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
    Walters ME, Lacassie Y, Azamian M, Franciskovich R, Zapata G, Hernandez PP, Liu P, Campbell IM, Bostwick BL, Lalani SR.

    07/24/2021
    miR-1470 regulates cell proliferation and apoptosis by targeting ALX4 in hepatocellular carcinoma.

    miR-1470 regulates cell proliferation and apoptosis by targeting ALX4 in hepatocellular carcinoma.
    Lu Y, Yang L, Qin A, Qiao Z, Huang B, Jiang X, Wu J.

    09/5/2020
    We reveal for the first time that ALX4 acts as a novel functional tumor suppressor inactivated by DNA methylation and is an independent prognostic factor in breast cancer

    ALX4, an epigenetically down regulated tumor suppressor, inhibits breast cancer progression by interfering Wnt/β-catenin pathway.
    Yang J, Han F, Liu W, Chen H, Hao X, Jiang X, Yin L, Huang Y, Cao J, Zhang H, Liu J., Free PMC Article

    08/11/2018
    overexpression of ALX4 inhibited the proliferation, invasion, and epithelial-mesenchymal transition (EMT) in HCC cells. ALX4 had an inhibitory effect on the sonic hedgehog (Shh) signaling pathway.

    Overexpression of Aristaless-Like Homeobox-4 Inhibits Proliferation, Invasion, and EMT in Hepatocellular Carcinoma Cells.
    Shi Y, Sun X, He X., Free PMC Article

    03/18/2017
    mother of Case 2 also had a mutation in the ALX4 gene, but no enlarged parietal foramina

    [Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].
    Morita M, Nanba E, Adachi K, Ohno K.

    07/30/2016
    Our results show that HOXB13/SLUG and ALX4/SLUG axes are novel pathways that promote EMT and invasion of ovarian cancer cells.

    HOXB13 and ALX4 induce SLUG expression for the promotion of EMT and cell invasion in ovarian cancer cells.
    Yuan H, Kajiyama H, Ito S, Chen D, Shibata K, Hamaguchi M, Kikkawa F, Senga T., Free PMC Article

    04/9/2016
    High-quality solution NMR structures of three homeodomains from human proteins ALX4, ZHX1 and CASP8AP2 were solved.

    Solution NMR structures of homeodomains from human proteins ALX4, ZHX1, and CASP8AP2 contribute to the structural coverage of the Human Cancer Protein Interaction Network.
    Xu X, Pulavarti SV, Eletsky A, Huang YJ, Acton TB, Xiao R, Everett JK, Montelione GT, Szyperski T., Free PMC Article

    07/25/2015
    We suggest that all ALX4 heterozygote carriers be examined in detail for possible changes in nasal configuration, to establish a detailed genotype-phenotype correlation, leading the way to more comprehensive genetic counseling.

    Mild nasal clefting may be predictive for ALX4 heterozygotes.
    Altunoglu U, Satkın B, Uyguner ZO, Kayserili H.

    04/4/2015
    Epigenetic silencing of Aristaless-like homeobox-4 is associated with lung cancer.

    Epigenetic silencing of Aristaless-like homeobox-4, a potential tumor suppressor gene associated with lung cancer.
    Liu WB, Han F, Du XH, Jiang X, Li YH, Liu Y, Chen HQ, Ao L, Cui ZH, Cao J, Liu JY.

    03/1/2014
    study describes 2 related individuals with a heterozygous mutation in ALX4 presenting a distinct phenotype of frontonasal dysplasia; suggest that the loss of the ALX4 OAR domain with the maintenance of the homeodomain impairs the function of the normal allele in a dominant-negative effect

    Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.
    Bertola DR, Rodrigues MG, Quaio CR, Kim CA, Passos-Bueno MR.

    09/28/2013
    ALX4 variants may have an impact on the genetic etiology of nonsyndromic craniosynostosis.

    ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
    Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA., Free PMC Article

    04/20/2013
    Exclusion of mutations in ALX4 gene in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies

    Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.
    Ribeiro-Bicudo LA, Quiezi RG, Guion-Almeida ML, Legnaro C, Richieri-Costa A.

    12/8/2012
    Downregulation of HoxB2, HoxB4 and Alx4 expression during the narrow window of early embryogenesis may cause omphalocele in the Cd chick model by interfering with molecular signaling required for proper VBW formation.

    HoxB2, HoxB4 and Alx4 genes are downregulated in the cadmium-induced omphalocele in the chick model.
    Doi T, Puri P, Bannigan J, Thompson J.

    03/5/2011
    Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Impact of single nucleotide polymorphisms and of clinical risk factors on new‐onset diabetes mellitus in HIV‐infected individuals.
    Rotger M, Gsponer T, Martinez R, Taffé P, Elzi L, Vernazza P, Cavassini M, Bernasconi E, Hirschel B, Furrer H, Weber R, Ledergerber B, Egger M, Telenti A, Tarr PE, Swiss HIV Cohort Study.

    12/5/2010
    Data show that methylated DNA from advanced precancerous colorectal lesions can be detected using a panel of two DNA methylation markers, ALX4 and SEPT9.

    Performance of epigenetic markers SEPT9 and ALX4 in plasma for detection of colorectal precancerous lesions.
    Tänzer M, Balluff B, Distler J, Hale K, Leodolter A, Röcken C, Molnar B, Schmid R, Lofton-Day C, Schuster T, Ebert MP., Free PMC Article

    10/4/2010
    data show a distinct pattern of expression of ALX4 in the human breast relative to the murine mammary gland, and the loss of ALX4 in tumours and the surrounding untransformed stroma is a basic characteristic of ductal carcinoma.

    Loss of ALX4 expression in epithelial cells and adjacent stromal cells in breast cancer.
    Chang H, Mohabir N, Done S, Hamel PA.

    02/22/2010
    ALX4 plays a critical role in craniofacial and epidermal development.

    ALX4 dysfunction disrupts craniofacial and epidermal development.
    Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA.

    02/8/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    A genome-wide association study identifies novel risk loci for type 2 diabetes.
    Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, Boutin P, Vincent D, Belisle A, Hadjadj S, Balkau B, Heude B, Charpentier G, Hudson TJ, Montpetit A, Pshezhetsky AV, Prentki M, Posner BI, Balding DJ, Meyre D, Polychronakos C, Froguel P.

    03/13/2008
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (3) articles

    Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
    Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC.

    Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
    Drenos F, Talmud PJ, Casas JP, Smeeth L, Palmen J, Humphries SE, Hingorani AD.

    High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
    Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH.

    03/13/2008
    The ALX4 mutation p.R218Q tends to result in persistent cranium bifidum and is associated with anatomical abnormalities of the posterior fossa.

    Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
    Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO., Free PMC Article

    01/21/2010
    One subject with parietal foramina whose deletion does not include ALX4 indicates that ALX4 in this subject may be rendered functionally haploinsufficient by a position effect.

    Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
    Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.

    01/21/2010
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