These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 32471643)

  • 1. Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome.
    Flemming J; Marczenke M; Rudolph IM; Nielsen R; Storm T; Erik IC; Diecke S; Emma F; Willnow TE
    Kidney Int; 2020 Jul; 98(1):159-167. PubMed ID: 32471643
    [TBL] [Abstract][Full Text] [Related]  

  • 2. In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.
    Dachy A; Paquot F; Debray G; Bovy C; Christensen EI; Collard L; Jouret F
    Pediatr Nephrol; 2015 Jun; 30(6):1027-31. PubMed ID: 25822460
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells.
    Long KR; Rbaibi Y; Bondi CD; Ford BR; Poholek AC; Boyd-Shiwarski CR; Tan RJ; Locker JD; Weisz OA
    Am J Physiol Renal Physiol; 2022 Jan; 322(1):F14-F26. PubMed ID: 34747197
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.
    Khalifa O; Al-Sahlawi Z; Imtiaz F; Ramzan K; Allam R; Al-Mostafa A; Abdel-Fattah M; Abuharb G; Nester M; Verloes A; Al-Zaidan H
    Eur J Med Genet; 2015 May; 58(5):293-9. PubMed ID: 25682901
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cryo-EM structures elucidate the multiligand receptor nature of megalin.
    Goto S; Tsutsumi A; Lee Y; Hosojima M; Kabasawa H; Komochi K; Nagatoishi S; Takemoto K; Tsumoto K; Nishizawa T; Kikkawa M; Saito A
    Proc Natl Acad Sci U S A; 2024 May; 121(22):e2318859121. PubMed ID: 38771880
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
    Khan AO; Ghazi NG
    Ophthalmic Genet; 2018 Jun; 39(3):321-324. PubMed ID: 29388841
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.
    Storm T; Tranebjærg L; Frykholm C; Birn H; Verroust PJ; Nevéus T; Sundelin B; Hertz JM; Holmström G; Ericson K; Christensen EI; Nielsen R
    Nephrol Dial Transplant; 2013 Mar; 28(3):585-91. PubMed ID: 23048173
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.
    Schrauwen I; Sommen M; Claes C; Pinner J; Flaherty M; Collins F; Van Camp G
    Clin Genet; 2014 Sep; 86(3):282-6. PubMed ID: 23992033
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice.
    Storm T; Heegaard S; Christensen EI; Nielsen R
    Cell Tissue Res; 2014 Oct; 358(1):99-107. PubMed ID: 24980834
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.
    Ozdemir H; Plamondon J; Gaskin P; Asoglu MR; Turan S
    Am J Med Genet A; 2020 Feb; 182(2):289-292. PubMed ID: 31821692
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism.
    Li Q; Lei F; Tang Y; Pan JS; Tong Q; Sun Y; Sheikh-Hamad D
    Cell Mol Life Sci; 2018 Nov; 75(21):4021-4040. PubMed ID: 29916093
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
    Kantarci S; Al-Gazali L; Hill RS; Donnai D; Black GC; Bieth E; Chassaing N; Lacombe D; Devriendt K; Teebi A; Loscertales M; Robson C; Liu T; MacLaughlin DT; Noonan KM; Russell MK; Walsh CA; Donahoe PK; Pober BR
    Nat Genet; 2007 Aug; 39(8):957-9. PubMed ID: 17632512
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.
    Anglani F; Terrin L; Brugnara M; Battista M; Cantaluppi V; Ceol M; Bertoldi L; Valle G; Joy MP; Pober BR; Longoni M
    Clin Genet; 2018 Jul; 94(1):187-188. PubMed ID: 29532936
    [TBL] [Abstract][Full Text] [Related]  

  • 14. From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age.
    Gritti MM; Pecoraro L; Ceol M; Pietrobelli A; Piacentini G; Anglani F; Brugnara M
    Clin Genet; 2023 Dec; 104(6):711-712. PubMed ID: 37592754
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist.
    Aksenova M; Zaikova N; Lepaeva T
    J Nephrol; 2021 Jun; 34(3):921-924. PubMed ID: 33471318
    [No Abstract]   [Full Text] [Related]  

  • 16. Bartter-Like Renal Phenotype in a Child with Donnai-Barrow Syndrome.
    Sait H; Singh R; Kapoor S
    Indian J Pediatr; 2021 Apr; 88(4):390. PubMed ID: 33403612
    [No Abstract]   [Full Text] [Related]  

  • 17. Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule.
    Terryn S; Tanaka K; Lengelé JP; Olinger E; Dubois-Laforgue D; Garbay S; Kozyraki R; Van Der Smissen P; Christensen EI; Courtoy PJ; Bellanné-Chantelot C; Timsit J; Pontoglio M; Devuyst O
    Kidney Int; 2016 May; 89(5):1075-1089. PubMed ID: 27083284
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome.
    Willnow TE; Christ A
    Pflugers Arch; 2017 Aug; 469(7-8):907-916. PubMed ID: 28497274
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome.
    Chinta S; Gupta A; Sachdeva V; Kekunnaya R
    J AAPOS; 2011 Dec; 15(6):604-5. PubMed ID: 22153411
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
    Kantarci S; Ragge NK; Thomas NS; Robinson DO; Noonan KM; Russell MK; Donnai D; Raymond FL; Walsh CA; Donahoe PK; Pober BR
    Am J Med Genet A; 2008 Jul; 146A(14):1842-7. PubMed ID: 18553518
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.