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    WDR72 WD repeat domain 72 [ Homo sapiens (human) ]

    Gene ID: 256764, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

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    GeneRIFPubMed TitleDate
    Long non-coding RNA X-Inactive Specific Transcript (XIST) interacting with USF2 promotes osteogenic differentiation of periodontal ligament stem cells through regulation of WDR72 transcription.

    Long non-coding RNA X-Inactive Specific Transcript (XIST) interacting with USF2 promotes osteogenic differentiation of periodontal ligament stem cells through regulation of WDR72 transcription.
    Xu K, Li YD, Ren LY, Song HL, Yang QY, Xu DL.

    		11/20/2023
    Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.

    Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.
    Husein D, Alamoudi A, Ohyama Y, Mochida H, Ritter B, Mochida Y., Free PMC Article

    		05/7/2022
    WDR72 mutations cause a syndromic form of AI and improve our ability to diagnose AI caused by WDR72 defects

    WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.
    Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim JW, Tinawi S, Zhang C, Jacquemont ML, Vieira AR, Simmer JP, Hu JCC., Free PMC Article

    		02/1/2020
    WDR72 mutations associated with dRTA have not been previously described. This is the first identification of pathogenic variations in WDR72 as a cause of hereditary dRTA.

    Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.
    Rungroj N, Nettuwakul C, Sawasdee N, Sangnual S, Deejai N, Misgar RA, Pasena A, Khositseth S, Kirdpon S, Sritippayawan S, Vasuvattakul S, Yenchitsomanus PT.

    		11/16/2019
    Based on whole exome sequencing in a large consanguineous amelogenesis imperfecta pedigree, an evidence for presence of a multi-exonic WDR72 deletion has been obtained.

    Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.
    Hentschel J, Tatun D, Parkhomchuk D, Kurth I, Schimmel B, Heinrich-Weltzien R, Bertzbach S, Peters H, Beetz C.

    		01/28/2017
    WDR72 has a major role in enamel mineralization, most notably during the maturation stage, suggesting a function involving endocytic vesicle trafficking, and the removal of amelogenin proteins.

    WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.
    Katsura KA, Horst JA, Chandra D, Le TQ, Nakano Y, Zhang Y, Horst OV, Zhu L, Le MH, DenBesten PK., Free PMC Article

    		06/20/2015
    The rs11056571, p=1.68x10(-8); and rs2300290, p=1.09x10(-8)). rs719714 downstream of WDR72 was associated with executive functioning.

    Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function.
    LeBlanc M, Kulle B, Sundet K, Agartz I, Melle I, Djurovic S, Frigessi A, Andreassen OA.

    		05/26/2012
    Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth

    Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
    El-Sayed W, Shore RC, Parry DA, Inglehearn CF, Mighell AJ., Free PMC Article

    		10/22/2011
    the 4 recently reported SNPs,located near BNC2, SORCS1, GSC and WDR72 loci, affecting glycemic control in type 1 diabetes had no apparent effect on HbA1c in type 2 diabetes; but, for SORCS1 SNP, findings do not rule out possible relationship with HbA1c

    Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study).
    Hertel JK, Johansson S, Ræder H, Platou CG, Midthjell K, Hveem K, Molven A, Njølstad PR., Free PMC Article

    		04/16/2011
    A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. WDR72 is a cytoplasmic protein that is critical for dental enamel formation.

    Novel WDR72 mutation and cytoplasmic localization.
    Lee SK, Seymen F, Lee KE, Kang HY, Yildirim M, Tuna EB, Gencay K, Hwang YH, Nam KH, De La Garza RJ, Hu JC, Simmer JP, Kim JW., Free PMC Article

    		01/1/2011
    Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)

    New loci associated with kidney function and chronic kidney disease.
    Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H, Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A, Teumer A, Paré G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC, Probst-Hensch NM, Kronenberg F, Tönjes A, Hayward C, Aspelund T, Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD, Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A, Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T, Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS, Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N, Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I, Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF, Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D, Brandstätter A, Kollerits B, Kedenko L, Mägi R, Stumvoll M, Kovacs P, Boban M, Campbell S, Endlich K, Völzke H, Kroemer HK, Nauck M, Völker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM, Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T, Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I, Krämer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC, Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM, Fox CS., Free PMC Article

    		06/30/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    		06/30/2010
    investigation of autosomal-recessive hypomaturation amelogenesis imperfecta (AI) in a consanguineous Pakistani family; a locus on chromosome 15q21.3 was identified; sequencing revealed a point mutation in the WDR72 gene

    Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
    El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ., Free PMC Article

    		02/22/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose.
    Paterson AD, Waggott D, Boright AP, Hosseini SM, Shen E, Sylvestre MP, Wong I, Bharaj B, Cleary PA, Lachin JM, MAGIC (Meta-Analyses of Glucose and Insulin-related traits Consortium), Below JE, Nicolae D, Cox NJ, Canty AJ, Sun L, Bull SB, Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group., Free PMC Article

    		12/2/2009
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