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    WDR19 WD repeat domain 19 [ Homo sapiens (human) ]

    Gene ID: 57728, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Identification of the primary ciliary proteins IFT38 and IFT144 to enhance serum-mediated YAP activation and cell proliferation.

    Identification of the primary ciliary proteins IFT38 and IFT144 to enhance serum-mediated YAP activation and cell proliferation.
    Yu JH, Kim JH, Soung NK, Moon EY, Koo JH.

    10/13/2023
    Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.

    Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.
    Sajovic J, Meglič A, Volk M, Maver A, Jarc-Vidmar M, Hawlina M, Fakin A., Free PMC Article

    03/2/2023
    Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.

    Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.
    Ishida Y, Kobayashi T, Chiba S, Katoh Y, Nakayama K.

    11/13/2021
    A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.

    A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.
    Ni X, Wang J, Lv M, Liu C, Zhong Y, Tian S, Wu H, Cheng H, Gao Y, Tan Q, Chen B, Li Q, Song B, Wei Z, Zhou P, He X, Zhang F, Cao Y., Free PMC Article

    02/6/2021
    Case Reports: that WDR19 mutations can cause dysplastic kidney in addition to nephronophthisis in infants with Sensenbrenner syndrome.

    Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.
    Yoshikawa T, Kamei K, Nagata H, Saida K, Sato M, Ogura M, Ito S, Miyazaki O, Urushihara M, Kondo S, Sugawara N, Ishizuka K, Hamasaki Y, Shishido S, Morisada N, Iijima K, Nagata M, Yoshioka T, Ogata K, Ishikura K.

    05/12/2018
    Nephronophthisis 13 (Autosomal Recessive Polycystic Kidney Disease) is associated with mutations in the WDR19 gene.Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population.

    Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
    Lee JM, Ahn YH, Kang HG, Ha II, Lee K, Moon KC, Lee JH, Park YS, Cho YM, Bae JS, Kim NK, Park WY, Cheong HI.

    08/6/2016
    WDR19 mutations can cause a broad spectrum of ciliopathies that extends to Jeune and Sensenbrenner syndromes, RP and renal NPHP-like phenotypes

    Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
    Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C.

    02/21/2015
    Mutations in WDR19 gene is associated with Caroli disease.

    Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
    Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA, GPN Study Group., Free PMC Article

    03/8/2014
    WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

    WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
    Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK., Free PMC Article

    02/22/2014
    Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

    Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
    Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH., Free PMC Article

    02/25/2012
    Overexpression of WDR19 is associated with prostate cancer

    WDR19 expression is increased in prostate cancer compared with normal cells, but low-intensity expression in cancers is associated with shorter time to biochemical failures and local recurrence.
    Lin B, Utleg AG, Gravdal K, White JT, Halvorsen OJ, Lu W, True LD, Vessella R, Lange PH, Nelson PS, Hood L, Kalland KH, Akslen LA.

    01/21/2010
    Expressed in normal and neoplastic prostate epithelium and is regulated by androgenic hormones.

    Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.
    Lin B, White JT, Utleg AG, Wang S, Ferguson C, True LD, Vessella R, Hood L, Nelson PS.

    01/21/2010
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