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Journal Abstract Search

300 related items for PubMed ID: 25018096

  • 1. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
    Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH, POC1B Study Group, Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, Cremers FP.
    Am J Hum Genet; 2014 Aug 07; 95(2):131-42. PubMed ID: 25018096
    [Abstract] [Full Text] [Related]

  • 2. Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish.
    Zhang C, Zhang Q, Wang F, Liu Q.
    Biochem Biophys Res Commun; 2015 Oct 02; 465(4):651-7. PubMed ID: 26188096
    [Abstract] [Full Text] [Related]

  • 3. Mutation of POC1B in a severe syndromic retinal ciliopathy.
    Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.
    Hum Mutat; 2014 Oct 02; 35(10):1153-62. PubMed ID: 25044745
    [Abstract] [Full Text] [Related]

  • 4. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.
    Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF.
    Am J Hum Genet; 2010 Sep 10; 87(3):400-9. PubMed ID: 20797688
    [Abstract] [Full Text] [Related]

  • 5. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
    Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM, European Retinal Disease Consortium, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI.
    Am J Hum Genet; 2013 Jul 11; 93(1):110-7. PubMed ID: 23746546
    [Abstract] [Full Text] [Related]

  • 6. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
    Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C.
    Hum Mol Genet; 2012 Dec 01; 21(23):5174-84. PubMed ID: 22940612
    [Abstract] [Full Text] [Related]

  • 7. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
    El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I.
    Am J Hum Genet; 2014 Apr 03; 94(4):625-33. PubMed ID: 24680887
    [Abstract] [Full Text] [Related]

  • 8. Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
    Karlstetter M, Sorusch N, Caramoy A, Dannhausen K, Aslanidis A, Fauser S, Boesl MR, Nagel-Wolfrum K, Tamm ER, Jägle H, Stoehr H, Wolfrum U, Langmann T.
    Hum Mol Genet; 2014 Oct 01; 23(19):5197-210. PubMed ID: 24833722
    [Abstract] [Full Text] [Related]

  • 9. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
    Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I.
    Genet Med; 2024 Jun 01; 26(6):101081. PubMed ID: 38293907
    [Abstract] [Full Text] [Related]

  • 10. Prion-induced photoreceptor degeneration begins with misfolded prion protein accumulation in cones at two distinct sites: cilia and ribbon synapses.
    Striebel JF, Race B, Leung JM, Schwartz C, Chesebro B.
    Acta Neuropathol Commun; 2021 Jan 29; 9(1):17. PubMed ID: 33509294
    [Abstract] [Full Text] [Related]

  • 11. Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology.
    Collery RF, Cederlund ML, Kennedy BN.
    Exp Eye Res; 2013 Mar 29; 108():120-8. PubMed ID: 23328348
    [Abstract] [Full Text] [Related]

  • 12. Novel recessive cone-rod dystrophy caused by POC1B mutation.
    Durlu YK, Köroğlu Ç, Tolun A.
    JAMA Ophthalmol; 2014 Oct 29; 132(10):1185-91. PubMed ID: 24945461
    [Abstract] [Full Text] [Related]

  • 13. Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
    Liu Y, Chen J, Sager R, Sasaki E, Hu H.
    Int J Mol Sci; 2022 Oct 10; 23(19):. PubMed ID: 36233334
    [Abstract] [Full Text] [Related]

  • 14. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
    Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K, Tsunoda K, Hayashi T, Kikuchi S, Kameya S, Iwata T, Terasaki H.
    Ophthalmic Genet; 2018 Apr 10; 39(2):255-262. PubMed ID: 29220607
    [Abstract] [Full Text] [Related]

  • 15. A homozygous POC1B variant causes recessive cone-rod dystrophy.
    Peturson AC, Noel NCL, MacDonald IM.
    Ophthalmic Genet; 2021 Jun 10; 42(3):349-353. PubMed ID: 33657974
    [Abstract] [Full Text] [Related]

  • 16. PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.
    Allon G, Mann I, Remez L, Sehn E, Rizel L, Nevet MJ, Perlman I, Wolfrum U, Ben-Yosef T.
    Hum Mol Genet; 2019 Dec 15; 28(24):4078-4088. PubMed ID: 31628458
    [Abstract] [Full Text] [Related]

  • 17. Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina.
    Schlegel DK, Ramkumar S, von Lintig J, Neuhauss SC.
    Elife; 2021 Oct 20; 10():. PubMed ID: 34668483
    [Abstract] [Full Text] [Related]

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  • 19. Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
    Weisz Hubshman M, Broekman S, van Wijk E, Cremers F, Abu-Diab A, Khateb S, Tzur S, Lagovsky I, Smirin-Yosef P, Sharon D, Haer-Wigman L, Banin E, Basel-Vanagaite L, de Vrieze E.
    Hum Mol Genet; 2018 Feb 15; 27(4):614-624. PubMed ID: 29272404
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