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    PHLDB1 pleckstrin homology like domain family B member 1 [ Homo sapiens (human) ]

    Gene ID: 23187, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.

    Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
    Tuysuz B, Uludag Alkaya D, Geyik F, Alaylıoğlu M, Kasap B, Kurugoğlu S, Akman YE, Vural M, Bilguvar K.

    07/25/2023
    Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus.

    Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus.
    Zhai J, Zhang P, Zhang N, Luo Y, Wu Y.

    06/18/2022
    Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk.

    Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk.
    Wei Y, Wang X, Zhang Z, Xie M, Li Y, Cao H, Zhao X.

    11/22/2021
    The rs6010620 (RTEL1), rs4977756 (CDKN2A/B), and rs498872 (PHLDB1) are associated with glioma risk in the Portuguese population. The GA genotype of the rs498872 (PHLDB1) was associated with an increased risk of gliomas (OR 2.92) and glioblastomas (OR 2.39). In addition, the genotype AA of the rs498872 (PHLDB1) was associated with poor overall survival of gliomas patients (AA vs. GA, p = 0.037).

    Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients.
    Viana-Pereira M, Moreno DA, Linhares P, Amorim J, Nabiço R, Costa S, Vaz R, Reis RM.

    06/27/2020
    this paper shows that PHLDB1 gene polymorphism is associated with IgA nephropathy risk in Chinese Han population

    3'UTR variants of TNS3, PHLDB1, NTN4, and GNG2 genes are associated with IgA nephropathy risk in Chinese Han population.
    Feng Y, Su Y, Ma C, Jing Z, Yang X, Zhang D, Xie M, Li W, Wei J.

    01/18/2020
    findings suggest that genetic variation of PHLDB1 may be associated with the risk of nonfunctional pituitary adenoma

    A PHLDB1 variant associated with the nonfunctional pituitary adenoma.
    Kim LH, Kim JH, Namgoong S, Cheong HS, Yoon SJ, Kim EH, Kim SH, Kim SH, Chang JH, Shin HD.

    08/24/2019
    The results indicate that liprin-alpha1, LL5 and ERC1 define a novel dynamic membrane-less compartment that regulates matrix degradation by affecting invadosome motility.

    Identification of a membrane-less compartment regulating invadosome function and motility.
    Sala K, Raimondi A, Tonoli D, Tacchetti C, de Curtis I., Free PMC Article

    11/24/2018
    The rs498872 PHLDB1 polymorphism was significantly associated with glioma risk in Chinese Han population.

    Pleckstrin homology-like domain family B member 1 rs498872 polymorphism and glioma risk in Chinese Han population.
    Zhang JW, Liu ZH, Lin XH, Du YP, Guo HT.

    05/19/2018
    Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.

    Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.
    Baskin R, Woods NT, Mendoza-Fandiño G, Forsyth P, Egan KM, Monteiro AN., Free PMC Article

    09/24/2016
    PHLDB1 rs498872 polymorphism was associated with increased risk of glioma.

    The PHLDB1 rs498872 (11q23.3) polymorphism and glioma risk: A meta-analysis.
    Gao X, Mi Y, Yan A, Sha B, Guo N, Hu Z, Zhang N, Jiang F, Gou X.

    05/28/2016
    results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population

    Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.
    Yang B, Heng L, Du S, Yang H, Jin T, Lang H, Li S., Free PMC Article

    04/16/2016
    Liprin-alpha1, ERC1a and LL5 also define new highly polarized and dynamic cytoplasmic structures uniquely localized near the protruding cell edge

    Liprin-α1, ERC1 and LL5 define polarized and dynamic structures that are implicated in cell migration.
    Astro V, Chiaretti S, Magistrati E, Fivaz M, de Curtis I.

    08/15/2015
    study discovered multiple susceptibility variants for systemic lupus erythematosus in the 11q23.3 region, including variants in/near PHLDB1 (rs11603023), DDX6 (rs638893) and CXCR5 (rs10892301)

    Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians.
    Zhang J, Zhang Y, Yang J, Zhang L, Sun L, Pan HF, Hirankarn N, Ying D, Zeng S, Lee TL, Lau CS, Chan TM, Leung AM, Mok CC, Wong SN, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Garcia-Barceló MM, Cherny SS, Tam PK, Cui Y, Sham PC, Yang S, Ye DQ, Zhang XJ, Lau YL, Yang W.

    08/9/2014
    Single nucleotide polymorphisms in the PHLDB1 and ARCN1 genes are associated with increased risk of Glioma.

    Fine mapping of a region of chromosome 11q23.3 reveals independent locus associated with risk of glioma.
    Chen H, Sun B, Zhao Y, Song X, Fan W, Zhou K, Zhou L, Mao Y, Lu D., Free PMC Article

    06/29/2013
    SUSCEPTIBILITY LOCI FOR GLIOMA AND GLIOBLASTOMA RISK IN A CHINESE POPULATION INCLUDED PHLDBI

    Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population.
    Chen H, Chen Y, Zhao Y, Fan W, Zhou K, Liu Y, Zhou L, Mao Y, Wei Q, Xu J, Lu D.

    06/4/2011
    Observational study of gene-disease association. (HuGE Navigator)

    Genetic risk profiles identify different molecular etiologies for glioma.
    Simon M, Hosking FJ, Marie Y, Gousias K, Boisselier B, Carpentier C, Schramm J, Mokhtari K, Hoang-Xuan K, Idbaih A, Delattre JY, Lathrop M, Robertson LB, Houlston RS, Sanson M., Free PMC Article

    12/5/2010
    Signaling from laminin-integrin associations in epithelial cells attaches microtubule plus ends to the epithelial basal cell cortex via PHLDB1 and PHLDB2.

    Laminin-based cell adhesion anchors microtubule plus ends to the epithelial cell basal cortex through LL5alpha/beta.
    Hotta A, Kawakatsu T, Nakatani T, Sato T, Matsui C, Sukezane T, Akagi T, Hamaji T, Grigoriev I, Akhmanova A, Takai Y, Mimori-Kiyosue Y., Free PMC Article

    07/26/2010
    Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Interaction between 5 genetic variants and allergy in glioma risk.
    Schoemaker MJ, Robertson L, Wigertz A, Jones ME, Hosking FJ, Feychting M, Lönn S, McKinney PA, Hepworth SJ, Muir KR, Auvinen A, Salminen T, Kiuru A, Johansen C, Houlston RS, Swerdlow AJ.

    06/30/2010
    Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)

    Genome-wide association study identifies five susceptibility loci for glioma.
    Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, Malmer B, Simon M, Marie Y, Boisselier B, Delattre JY, Hoang-Xuan K, El Hallani S, Idbaih A, Zelenika D, Andersson U, Henriksson R, Bergenheim AT, Feychting M, Lönn S, Ahlbom A, Schramm J, Linnebank M, Hemminki K, Kumar R, Hepworth SJ, Price A, Armstrong G, Liu Y, Gu X, Yu R, Lau C, Schoemaker M, Muir K, Swerdlow A, Lathrop M, Bondy M, Houlston RS., Free PMC Article

    08/12/2009
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