BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 32747439)

  • 1. Biallelic mutations in the
    Morbidoni V; Agolini E; Slep KC; Pannone L; Zuccarello D; Cassina M; Grosso E; Gai G; Salviati L; Dallapiccola B; Novelli A; Martinelli S; Trevisson E
    J Med Genet; 2021 Aug; 58(8):526-533. PubMed ID: 32747439
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
    Shaheen R; Jiang N; Alzahrani F; Ewida N; Al-Sheddi T; Alobeid E; Musaev D; Stanley V; Hashem M; Ibrahim N; Abdulwahab F; Alshenqiti A; Sonmez FM; Saqati N; Alzaidan H; Al-Qattan MM; Al-Mohanna F; Gleeson JG; Alkuraya FS
    Am J Hum Genet; 2019 Apr; 104(4):731-737. PubMed ID: 30905400
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
    Van De Weghe JC; Rusterholz TDS; Latour B; Grout ME; Aldinger KA; Shaheen R; Dempsey JC; Maddirevula S; Cheng YH; Phelps IG; Gesemann M; Goel H; Birk OS; Alanzi T; Rawashdeh R; Khan AO; ; Bamshad MJ; Nickerson DA; Neuhauss SCF; Dobyns WB; Alkuraya FS; Roepman R; Bachmann-Gagescu R; Doherty D
    Am J Hum Genet; 2017 Jul; 101(1):23-36. PubMed ID: 28625504
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
    Batkovskyte D; Komatsu M; Hammarsjö A; Pooh R; Shimokawa O; Ikegawa S; Grigelioniene G; Nishimura G; Yamada T
    Clin Genet; 2024 Jan; 105(1):87-91. PubMed ID: 37619988
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
    Lange KI; Tsiropoulou S; Kucharska K; Blacque OE
    Dis Model Mech; 2021 Jan; 14(1):. PubMed ID: 33234550
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
    Devlin LA; Coles J; Jackson CL; Barroso-Gil M; Green B; Walker WT; Thomas NS; Thompson J; Rock SA; Neatu R; Powell L; Molinari E; ; Wilson IJ; Cordell HJ; Olinger E; Miles CG; Sayer JA; Wheway G; Lucas JS
    Clin Genet; 2023 Mar; 103(3):330-334. PubMed ID: 36273371
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
    Lange KI; Best S; Tsiropoulou S; Berry I; Johnson CA; Blacque OE
    Hum Mol Genet; 2022 May; 31(10):1574-1587. PubMed ID: 34964473
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
    Nazlamova L; Thomas NS; Cheung MK; Legebeke J; Lord J; Pengelly RJ; Tapper WJ; Wheway G
    Hum Genet; 2021 Apr; 140(4):593-607. PubMed ID: 33095315
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
    Cogné B; Latypova X; Senaratne LDS; Martin L; Koboldt DC; Kellaris G; Fievet L; Le Meur G; Caldari D; Debray D; Nizon M; Frengen E; Bowne SJ; ; Cadena EL; Daiger SP; Bujakowska KM; Pierce EA; Gorin M; Katsanis N; Bézieau S; Petersen-Jones SM; Occelli LM; Lyons LA; Legeai-Mallet L; Sullivan LS; Davis EE; Isidor B
    Am J Hum Genet; 2020 Jun; 106(6):893-904. PubMed ID: 32386558
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Role of cilia in structural birth defects: insights from ciliopathy mutant mouse models.
    Rao Damerla R; Gabriel GC; Li Y; Klena NT; Liu X; Chen Y; Cui C; Pazour GJ; Lo CW
    Birth Defects Res C Embryo Today; 2014 Jun; 102(2):115-25. PubMed ID: 24975753
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterizing the morbid genome of ciliopathies.
    Shaheen R; Szymanska K; Basu B; Patel N; Ewida N; Faqeih E; Al Hashem A; Derar N; Alsharif H; Aldahmesh MA; Alazami AM; Hashem M; Ibrahim N; Abdulwahab FM; Sonbul R; Alkuraya H; Alnemer M; Al Tala S; Al-Husain M; Morsy H; Seidahmed MZ; Meriki N; Al-Owain M; AlShahwan S; Tabarki B; Salih MA; ; Faquih T; El-Kalioby M; Ueffing M; Boldt K; Logan CV; Parry DA; Al Tassan N; Monies D; Megarbane A; Abouelhoda M; Halees A; Johnson CA; Alkuraya FS
    Genome Biol; 2016 Nov; 17(1):242. PubMed ID: 27894351
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
    Wallmeier J; Frank D; Shoemark A; Nöthe-Menchen T; Cindric S; Olbrich H; Loges NT; Aprea I; Dougherty GW; Pennekamp P; Kaiser T; Mitchison HM; Hogg C; Carr SB; Zariwala MA; Ferkol T; Leigh MW; Davis SD; Atkinson J; Dutcher SK; Knowles MR; Thiele H; Altmüller J; Krenz H; Wöste M; Brentrup A; Ahrens F; Vogelberg C; Morris-Rosendahl DJ; Omran H
    Am J Hum Genet; 2019 Nov; 105(5):1030-1039. PubMed ID: 31630787
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.
    Hong CJ; Hamilton BA
    PLoS Genet; 2016 Oct; 12(10):e1006357. PubMed ID: 27727273
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Motile and non-motile cilia in human pathology: from function to phenotypes.
    Mitchison HM; Valente EM
    J Pathol; 2017 Jan; 241(2):294-309. PubMed ID: 27859258
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
    Latour BL; Van De Weghe JC; Rusterholz TD; Letteboer SJ; Gomez A; Shaheen R; Gesemann M; Karamzade A; Asadollahi M; Barroso-Gil M; Chitre M; Grout ME; van Reeuwijk J; van Beersum SE; Miller CV; Dempsey JC; Morsy H; ; Bamshad MJ; ; Nickerson DA; Neuhauss SC; Boldt K; Ueffing M; Keramatipour M; Sayer JA; Alkuraya FS; Bachmann-Gagescu R; Roepman R; Doherty D
    J Clin Invest; 2020 Aug; 130(8):4423-4439. PubMed ID: 32453716
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel WD40 protein, CHE-2, acts cell-autonomously in the formation of C. elegans sensory cilia.
    Fujiwara M; Ishihara T; Katsura I
    Development; 1999 Nov; 126(21):4839-48. PubMed ID: 10518500
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cilia in hereditary cerebral anomalies.
    Thomas S; Boutaud L; Reilly ML; Benmerah A
    Biol Cell; 2019 Sep; 111(9):217-231. PubMed ID: 31177551
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The conserved proteins CHE-12 and DYF-11 are required for sensory cilium function in Caenorhabditis elegans.
    Bacaj T; Lu Y; Shaham S
    Genetics; 2008 Feb; 178(2):989-1002. PubMed ID: 18245347
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans.
    Niwa S
    Sci Rep; 2016 Aug; 6():31544. PubMed ID: 27515926
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Crescerin uses a TOG domain array to regulate microtubules in the primary cilium.
    Das A; Dickinson DJ; Wood CC; Goldstein B; Slep KC
    Mol Biol Cell; 2015 Nov; 26(23):4248-64. PubMed ID: 26378256
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.