BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 28126377)

  • 1. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
    Aubert G; Strauss KA; Lansdorp PM; Rider NL
    J Allergy Clin Immunol; 2017 Oct; 140(4):1120-1129.e1. PubMed ID: 28126377
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Decreased telomere length in children with cartilage-hair hypoplasia.
    Kostjukovits S; Degerman S; Pekkinen M; Klemetti P; Landfors M; Roos G; Taskinen M; Mäkitie O
    J Med Genet; 2017 May; 54(5):365-370. PubMed ID: 27986801
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
    de la Fuente MA; Recher M; Rider NL; Strauss KA; Morton DH; Adair M; Bonilla FA; Ochs HD; Gelfand EW; Pessach IM; Walter JE; King A; Giliani S; Pai SY; Notarangelo LD
    J Allergy Clin Immunol; 2011 Jul; 128(1):139-146. PubMed ID: 21570718
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.
    Vakkilainen S; Mäkitie R; Klemetti P; Valta H; Taskinen M; Husebye ES; Mäkitie O
    Front Immunol; 2018; 9():2468. PubMed ID: 30410491
    [No Abstract]   [Full Text] [Related]  

  • 5. Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
    Rogler LE; Kosmyna B; Moskowitz D; Bebawee R; Rahimzadeh J; Kutchko K; Laederach A; Notarangelo LD; Giliani S; Bouhassira E; Frenette P; Roy-Chowdhury J; Rogler CE
    Hum Mol Genet; 2014 Jan; 23(2):368-82. PubMed ID: 24009312
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia.
    Vakkilainen S; Kleino I; Honkanen J; Salo H; Kainulainen L; Gräsbeck M; Kekäläinen E; Mäkitie O; Klemetti P
    Front Immunol; 2020; 11():2020. PubMed ID: 32849667
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.
    Horn J; Schlesier M; Warnatz K; Prasse A; Superti-Furga A; Peter HH; Salzer U
    Hum Immunol; 2010 Sep; 71(9):916-9. PubMed ID: 20538026
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.
    Vakkilainen S; Skoog T; Einarsdottir E; Middleton A; Pekkinen M; Öhman T; Katayama S; Krjutškov K; Kovanen PE; Varjosalo M; Lindqvist A; Kere J; Mäkitie O
    Sci Rep; 2019 Sep; 9(1):13758. PubMed ID: 31551465
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling.
    Sun X; Zhang R; Liu M; Chen H; Chen L; Luo F; Zhang D; Huang J; Li F; Ni Z; Qi H; Su N; Jin M; Yang J; Tan Q; Du X; Chen B; Huang H; Chen S; Yin L; Xu X; Deng C; Luo L; Xie Y; Chen L
    J Bone Miner Res; 2019 Nov; 34(11):2101-2116. PubMed ID: 31237961
    [TBL] [Abstract][Full Text] [Related]  

  • 10. RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
    Uchida N; Ishii T; Nishimura G; Sato T; Kuratsuji G; Nagasaki K; Hosokawa Y; Adachi E; Takasawa K; Kashimada K; Tsujioka Y; Hasegawa T
    Am J Med Genet A; 2024 Jun; 194(6):e63562. PubMed ID: 38337186
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.
    Biggs CM; Kostjukovits S; Dobbs K; Laakso S; Klemetti P; Valta H; Taskinen M; Mäkitie O; Notarangelo LD
    J Clin Immunol; 2017 Aug; 37(6):508-510. PubMed ID: 28631025
    [No Abstract]   [Full Text] [Related]  

  • 12. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.
    Crahes M; Saugier-Veber P; Patrier S; Aziz M; Pirot N; Brasseur-Daudruy M; Layet V; Frébourg T; Laquerrière A
    Eur J Med Genet; 2013 Jul; 56(7):365-70. PubMed ID: 23643676
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
    Iqbal M; Muhammad N; Ali SA; Kostjukovits S; Mäkitie O; Naz S
    Clin Dysmorphol; 2017 Apr; 26(2):121-123. PubMed ID: 27740950
    [No Abstract]   [Full Text] [Related]  

  • 14. An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.
    Vatanavicharn N; Visitsunthorn N; Pho-iam T; Jirapongsananuruk O; Pacharn P; Chokephaibulkit K; Limwongse C; Wasant P
    J Appl Genet; 2010; 51(4):523-8. PubMed ID: 21063072
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
    Vakkilainen S; Taskinen M; Mäkitie O
    Scand J Immunol; 2020 Oct; 92(4):e12913. PubMed ID: 32506568
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.
    Steinbusch MMF; Caron MMJ; Surtel DAM; Friedrich F; Lausch E; Pruijn GJM; Verhesen W; Schroen BLM; van Rhijn LW; Zabel B; Welting TJM
    Sci Rep; 2017 Jul; 7(1):6440. PubMed ID: 28743979
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
    Klemetti P; Valta H; Kostjukovits S; Taskinen M; Toiviainen-Salo S; Mäkitie O
    Clin Genet; 2017 Aug; 92(2):204-207. PubMed ID: 28094436
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.
    Kainulainen L; Lassila O; Ruuskanen O
    J Clin Immunol; 2014 Feb; 34(2):256-9. PubMed ID: 24402619
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
    Ip W; Gaspar HB; Kleta R; Chanudet E; Bacchelli C; Pitts A; Nademi Z; Davies EG; Slatter MA; Amrolia P; Rao K; Veys P; Gennery AR; Qasim W
    J Clin Immunol; 2015 Feb; 35(2):147-57. PubMed ID: 25663137
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
    Vakkilainen S; Costantini A; Taskinen M; Wartiovaara-Kautto U; Mäkitie O
    J Med Genet; 2020 Jan; 57(1):18-22. PubMed ID: 31413121
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.