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.
253 related articles for article (PubMed ID: 22378147)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
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. 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]
11. 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]
12. 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]
13. 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]
14. Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia. Polat Aİ; Yiş U; Ayanoğlu M; Hız AS; Güleryüz H; Öztürk Atasoy T; Boerkoel CF Turk J Pediatr; 2015; 57(5):509-13. PubMed ID: 27411420 [TBL] [Abstract][Full Text] [Related]
15. Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient. Simon AJ; Lev A; Jeison M; Borochowitz ZU; Korn D; Lerenthal Y; Somech R J Clin Immunol; 2014 Jan; 34(1):76-83. PubMed ID: 24197801 [TBL] [Abstract][Full Text] [Related]
17. Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia. Gharesouran J; Hosseinzadeh H; Ghergherechi R; Shiva S; Taheri M; Liehr T; Rezazadeh M Pathol Res Pract; 2024 Feb; 254():155092. PubMed ID: 38218042 [TBL] [Abstract][Full Text] [Related]
18. SMARCAL1, the annealing helicase and the transcriptional co-regulator. Bansal R; Hussain S; Chanana UB; Bisht D; Goel I; Muthuswami R IUBMB Life; 2020 Oct; 72(10):2080-2096. PubMed ID: 32754981 [TBL] [Abstract][Full Text] [Related]