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 *

191 related articles for article (PubMed ID: 25319549)

  • 1. Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis.
    Sarin S; Javidan A; Boivin F; Alexopoulou I; Lukic D; Svajger B; Chu S; Baradaran-Heravi A; Boerkoel CF; Rosenblum ND; Bridgewater D
    J Histochem Cytochem; 2015 Jan; 63(1):32-44. PubMed ID: 25319549
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
    Morimoto M; Myung C; Beirnes K; Choi K; Asakura Y; Bokenkamp A; Bonneau D; Brugnara M; Charrow J; Colin E; Davis A; Deschenes G; Gentile M; Giordano M; Gormley AK; Govender R; Joseph M; Keller K; Lerut E; Levtchenko E; Massella L; Mayfield C; Najafian B; Parham D; Spranger J; Stenzel P; Yis U; Yu Z; Zonana J; Hendson G; Boerkoel CF
    Orphanet J Rare Dis; 2016 Nov; 11(1):149. PubMed ID: 27816064
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.
    Carroll C; Hunley TE; Guo Y; Cortez D
    Am J Med Genet A; 2015 Oct; 167A(10):2260-4. PubMed ID: 25943327
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia.
    Morimoto M; Choi K; Boerkoel CF; Cho KS
    Nucleus; 2016 Nov; 7(6):560-571. PubMed ID: 27813696
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
    Sanyal M; Morimoto M; Baradaran-Heravi A; Choi K; Kambham N; Jensen K; Dutt S; Dionis-Petersen KY; Liu LX; Felix K; Mayfield C; Dekel B; Bokenkamp A; Fryssira H; Guillen-Navarro E; Lama G; Brugnara M; Lücke T; Olney AH; Hunley TE; Polat AI; Yis U; Bogdanovic R; Mitrovic K; Berry S; Najera L; Najafian B; Gentile M; Nur Semerci C; Tsimaratos M; Lewis DB; Boerkoel CF
    Clin Immunol; 2015 Dec; 161(2):355-65. PubMed ID: 26499378
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.
    Xiong S; Shuai L; Li X; Dang X; Wu X; He Q
    BMC Nephrol; 2020 May; 21(1):170. PubMed ID: 32393263
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
    Baradaran-Heravi A; Cho KS; Tolhuis B; Sanyal M; Morozova O; Morimoto M; Elizondo LI; Bridgewater D; Lubieniecka J; Beirnes K; Myung C; Leung D; Fam HK; Choi K; Huang Y; Dionis KY; Zonana J; Keller K; Stenzel P; Mayfield C; Lücke T; Bokenkamp A; Marra MA; van Lohuizen M; Lewis DB; Shaw C; Boerkoel CF
    Hum Mol Genet; 2012 Jun; 21(11):2572-87. PubMed ID: 22378147
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.
    Carroll C; Badu-Nkansah A; Hunley T; Baradaran-Heravi A; Cortez D; Frangoul H
    Pediatr Blood Cancer; 2013 Sep; 60(9):E88-90. PubMed ID: 23630135
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].
    Wang W; Song H; Wei M; Qiu Z; Wang C; Zhang Y; Li M; Yuan Y; Tang X
    Zhonghua Er Ke Za Zhi; 2015 Jan; 53(1):45-50. PubMed ID: 25748404
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
    Lipska-Ziętkiewicz BS; Gellermann J; Boyer O; Gribouval O; Ziętkiewicz S; Kari JA; Shalaby MA; Ozaltin F; Dusek J; Melk A; Bayazit AK; Massella L; Hyla-Klekot L; Habbig S; Godron A; Szczepańska M; Bieniaś B; Drożdż D; Odeh R; Jarmużek W; Zachwieja K; Trautmann A; Antignac C; Schaefer F;
    PLoS One; 2017; 12(8):e0180926. PubMed ID: 28796785
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.
    Morimoto M; Wang KJ; Yu Z; Gormley AK; Parham D; Bogdanovic R; Lücke T; Mayfield C; Weksberg R; Hendson G; Boerkoel CF
    Pediatr Res; 2015 Dec; 78(6):609-17. PubMed ID: 26309238
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SMARCAL1 and replication stress: an explanation for SIOD?
    Bansbach CE; Boerkoel CF; Cortez D
    Nucleus; 2010; 1(3):245-8. PubMed ID: 21327070
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
    Morimoto M; Yu Z; Stenzel P; Clewing JM; Najafian B; Mayfield C; Hendson G; Weinkauf JG; Gormley AK; Parham DM; Ponniah U; André JL; Asakura Y; Basiratnia M; Bogdanović R; Bokenkamp A; Bonneau D; Buck A; Charrow J; Cochat P; Cordeiro I; Deschenes G; Fenkçi MS; Frange P; Fründ S; Fryssira H; Guillen-Navarro E; Keller K; Kirmani S; Kobelka C; Lamfers P; Levtchenko E; Lewis DB; Massella L; McLeod DR; Milford DV; Nobili F; Saraiva JM; Semerci CN; Shoemaker L; Stajić N; Stein A; Taha D; Wand D; Zonana J; Lücke T; Boerkoel CF
    Orphanet J Rare Dis; 2012 Sep; 7():70. PubMed ID: 22998683
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).
    Santangelo L; Gigante M; Netti GS; Diella S; Puteo F; Carbone V; Grandaliano G; Giordano M; Gesualdo L
    BMC Nephrol; 2014 Mar; 15():41. PubMed ID: 24589093
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dental abnormalities in Schimke immuno-osseous dysplasia.
    Morimoto M; Kérourédan O; Gendronneau M; Shuen C; Baradaran-Heravi A; Asakura Y; Basiratnia M; Bogdanovic R; Bonneau D; Buck A; Charrow J; Cochat P; Dehaai KA; Fenkçi MS; Frange P; Fründ S; Fryssira H; Keller K; Kirmani S; Kobelka C; Kohler K; Lewis DB; Massella L; McLeod DR; Milford DV; Nobili F; Olney AH; Semerci CN; Stajic N; Stein A; Taque S; Zonana J; Lücke T; Hendson G; Bonnaure-Mallet M; Boerkoel CF
    J Dent Res; 2012 Jul; 91(7 Suppl):29S-37S. PubMed ID: 22699664
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia.
    Yavuz S; Bayazıt AK; Anarat A; Gonlusen G; Alsancak P
    Pediatr Int; 2015 Apr; 57(2):310-3. PubMed ID: 25868949
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bone marrow transplantation in Schimke immuno-osseous dysplasia.
    Baradaran-Heravi A; Lange J; Asakura Y; Cochat P; Massella L; Boerkoel CF
    Am J Med Genet A; 2013 Oct; 161A(10):2609-13. PubMed ID: 23950031
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
    Hara-Isono K; Matsubara K; Hamada R; Shimada S; Yamaguchi T; Wakui K; Miyazaki O; Muroya K; Kurosawa K; Fukami M; Ogata T; Kosho T; Kagami M
    J Hum Genet; 2021 Nov; 66(11):1121-1126. PubMed ID: 34031513
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ligand-induced conformation changes drive ATP hydrolysis and function in SMARCAL1.
    Gupta M; Mazumder M; Dhatchinamoorthy K; Nongkhlaw M; Haokip DT; Gourinath S; Komath SS; Muthuswami R
    FEBS J; 2015 Oct; 282(19):3841-59. PubMed ID: 26195148
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Schimke immuno-osseous dysplasia: a cell autonomous disorder?
    Elizondo LI; Huang C; Northrop JL; Deguchi K; Clewing JM; Armstrong DL; Boerkoel CF
    Am J Med Genet A; 2006 Feb; 140(4):340-8. PubMed ID: 16419127
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.