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Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI, Huang JL, Yeh KW, Jaing TH, Lin TY, Huang YC, Chiu CH. Lee WI, et al. J Formos Med Assoc. 2011 Dec;110(12):750-8. doi: 10.1016/j.jfma.2011.11.004. Epub 2011 Dec 23. J Formos Med Assoc. 2011. PMID: 22248828 Free article. Review.
Restricted defective molecules in the circuit, including IFN-gammaR1, IFN-gammaR2, IL-12p40, IL-12R-beta1, STAT-1, NEMO, IKBA and the recently discovered CYBB responsible for autophagocytic vacuole and proteolysis, and interferon regulatory factor 8 (IRF8) for dendritic ce …
Restricted defective molecules in the circuit, including IFN-gammaR1, IFN-gammaR2, IL-12p40, IL-12R-beta1, STAT-1, NEMO, IKBA and the recent …
CRISPLD2: a novel NSCLP candidate gene.
Chiquet BT, Lidral AC, Stal S, Mulliken JB, Moreno LM, Arcos-Burgos M, Valencia-Ramirez C, Blanton SH, Hecht JT. Chiquet BT, et al. Hum Mol Genet. 2007 Sep 15;16(18):2241-8. doi: 10.1093/hmg/ddm176. Epub 2007 Jul 5. Hum Mol Genet. 2007. PMID: 17616516 Free PMC article.
Two candidate genes were found in the region: interferon regulatory factor 8 (IRF8) and cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2). ...No association was found between CRISPLD2 and our Colombian population or IRF8 and NSCLP. In situ hybridiz …
Two candidate genes were found in the region: interferon regulatory factor 8 (IRF8) and cysteine-rich secretory protein LCCL domain c …
Upregulation of the pathogenic transcription factor SPI1/PU.1 in tuberous sclerosis complex and focal cortical dysplasia by oxidative stress.
Zimmer TS, Korotkov A, Zwakenberg S, Jansen FE, Zwartkruis FJT, Rensing NR, Wong M, Mühlebner A, van Vliet EA, Aronica E, Mills JD. Zimmer TS, et al. Brain Pathol. 2021 Sep;31(5):e12949. doi: 10.1111/bpa.12949. Epub 2021 Mar 30. Brain Pathol. 2021. PMID: 33786950 Free PMC article.
Tuberous sclerosis complex (TSC) is a congenital disorder characterized by cortical malformations and concomitant epilepsy caused by loss-of-function mutations in the mTOR suppressors TSC1 or TSC2. ...We identified differential expression of the transcription factors (TFs) …
Tuberous sclerosis complex (TSC) is a congenital disorder characterized by cortical malformations and concomitant epilepsy caused by …
A small de novo 16q24.1 duplication in a woman with severe clinical features.
Quéméner-Redon S, Bénech C, Audebert-Bellanger S, Friocourt G, Planes M, Parent P, Férec C. Quéméner-Redon S, et al. Eur J Med Genet. 2013 Apr;56(4):211-5. doi: 10.1016/j.ejmg.2013.01.001. Epub 2013 Jan 17. Eur J Med Genet. 2013. PMID: 23333879 Free article.
The duplication, which is approximately 250 kb, encompasses seven genes (KIAA0182, GINS2, c16orf74, COX4NB, COX4I1, MIR1910 and IRF8). Several reports have previously described large 16q duplications, and some of these overlap with our region in 16q24.1. ...
The duplication, which is approximately 250 kb, encompasses seven genes (KIAA0182, GINS2, c16orf74, COX4NB, COX4I1, MIR1910 and IRF8) …
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6).
Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S, Trout KJ, Malik MI, Dunnwald M, Goudy SL, Lovett M, Murray JC, Schutte BC. Ingraham CR, et al. Nat Genet. 2006 Nov;38(11):1335-40. doi: 10.1038/ng1903. Epub 2006 Oct 15. Nat Genet. 2006. PMID: 17041601 Free PMC article.
For the interferon regulatory factor (IRF) family of transcription factors, mice deficient in Irf1, Irf2, Irf3, Irf4, Irf5, Irf7, Irf8 or Irf9 have defects in the immune response but show no embryologic abnormalities. ...
For the interferon regulatory factor (IRF) family of transcription factors, mice deficient in Irf1, Irf2, Irf3, Irf4, Irf5, Irf7, Irf8 …