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 *

189 related articles for article (PubMed ID: 29325022)

  • 1. Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
    Gorvin CM; Metpally R; Stokes VJ; Hannan FM; Krishnamurthy SB; Overton JD; Reid JG; Breitwieser GE; Thakker RV
    Hum Mol Genet; 2018 Mar; 27(5):901-911. PubMed ID: 29325022
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
    Hannan FM; Stevenson M; Bayliss AL; Stokes VJ; Stewart M; Kooblall KG; Gorvin CM; Codner G; Teboul L; Wells S; Thakker RV
    Hum Mol Genet; 2021 May; 30(10):880-892. PubMed ID: 33729479
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
    Hannan FM; Howles SA; Rogers A; Cranston T; Gorvin CM; Babinsky VN; Reed AA; Thakker CE; Bockenhauer D; Brown RS; Connell JM; Cook J; Darzy K; Ehtisham S; Graham U; Hulse T; Hunter SJ; Izatt L; Kumar D; McKenna MJ; McKnight JA; Morrison PJ; Mughal MZ; O'Halloran D; Pearce SH; Porteous ME; Rahman M; Richardson T; Robinson R; Scheers I; Siddique H; Van't Hoff WG; Wang T; Whyte MP; Nesbit MA; Thakker RV
    Hum Mol Genet; 2015 Sep; 24(18):5079-92. PubMed ID: 26082470
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
    Nesbit MA; Hannan FM; Howles SA; Reed AA; Cranston T; Thakker CE; Gregory L; Rimmer AJ; Rust N; Graham U; Morrison PJ; Hunter SJ; Whyte MP; McVean G; Buck D; Thakker RV
    Nat Genet; 2013 Jan; 45(1):93-7. PubMed ID: 23222959
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
    Gorvin CM; Cranston T; Hannan FM; Rust N; Qureshi A; Nesbit MA; Thakker RV
    J Bone Miner Res; 2016 Jun; 31(6):1200-6. PubMed ID: 26729423
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
    Hendy GN; Canaff L; Newfield RS; Tripto-Shkolnik L; Wong BY; Lee BS; Cole DE
    J Clin Endocrinol Metab; 2014 Jul; 99(7):E1311-5. PubMed ID: 24731014
    [TBL] [Abstract][Full Text] [Related]  

  • 7. N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (
    Gorvin CM; Rogers A; Stewart M; Paudyal A; Hough TA; Teboul L; Wells S; Brown SD; Cox RD; Thakker RV
    JBMR Plus; 2017 May; 1(1):3-15. PubMed ID: 29479578
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
    Stratta P; Merlotti G; Musetti C; Quaglia M; Pagani A; Izzo C; Radin E; Airoldi A; Baorda F; Palladino T; Leone MP; Guarnieri V
    Nephrol Dial Transplant; 2014 Oct; 29(10):1902-9. PubMed ID: 25104082
    [TBL] [Abstract][Full Text] [Related]  

  • 9. AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity.
    Gorvin CM; Rogers A; Hastoy B; Tarasov AI; Frost M; Sposini S; Inoue A; Whyte MP; Rorsman P; Hanyaloglu AC; Breitwieser GE; Thakker RV
    Cell Rep; 2018 Jan; 22(4):1054-1066. PubMed ID: 29420171
    [TBL] [Abstract][Full Text] [Related]  

  • 10. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
    Mayr B; Schnabel D; Dörr HG; Schöfl C
    Eur J Endocrinol; 2016 May; 174(5):R189-208. PubMed ID: 26646938
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Insights into calcium-sensing receptor trafficking and biased signalling by studies of calcium homeostasis.
    Gorvin CM
    J Mol Endocrinol; 2018 Jul; 61(1):R1-R12. PubMed ID: 29599414
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
    Rogers A; Nesbit MA; Hannan FM; Howles SA; Gorvin CM; Cranston T; Allgrove J; Bevan JS; Bano G; Brain C; Datta V; Grossman AB; Hodgson SV; Izatt L; Millar-Jones L; Pearce SH; Robertson L; Selby PL; Shine B; Snape K; Warner J; Thakker RV
    J Clin Endocrinol Metab; 2014 Jul; 99(7):E1300-5. PubMed ID: 24708097
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.
    Szalat A; Shpitzen S; Tsur A; Zalmon Koren I; Shilo S; Tripto-Shkolnik L; Durst R; Leitersdorf E; Meiner V
    Endocrine; 2017 Mar; 55(3):741-747. PubMed ID: 28176280
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα
    Gorvin CM; Hannan FM; Cranston T; Valta H; Makitie O; Schalin-Jantti C; Thakker RV
    J Bone Miner Res; 2018 Jan; 33(1):32-41. PubMed ID: 28833550
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
    Hannan FM; Babinsky VN; Thakker RV
    J Mol Endocrinol; 2016 Oct; 57(3):R127-42. PubMed ID: 27647839
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.].
    Michigami T
    Clin Calcium; 2017; 27(4):521-527. PubMed ID: 28336828
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by
    Wong FCK; Wong WS; Kwok JSS; Tsui TKC; Lau KP; Chan MHM; Yuen YP
    F1000Res; 2019; 8():1612. PubMed ID: 31723423
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.
    Nissen PH; Rejnmark L
    Clin Endocrinol (Oxf); 2019 Nov; 91(5):683-690. PubMed ID: 31433865
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
    Nesbit MA; Hannan FM; Howles SA; Babinsky VN; Head RA; Cranston T; Rust N; Hobbs MR; Heath H; Thakker RV
    N Engl J Med; 2013 Jun; 368(26):2476-2486. PubMed ID: 23802516
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
    Babinsky VN; Hannan FM; Gorvin CM; Howles SA; Nesbit MA; Rust N; Hanyaloglu AC; Hu J; Spiegel AM; Thakker RV
    J Biol Chem; 2016 May; 291(20):10876-85. PubMed ID: 26994139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.