Found: 13
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Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2881, doi. 10.1093/hmg/ddt143
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- Publication type:
- Article
SPINK5, the Defective Gene in Netherton Syndrome, Encodes Multiple LEKTI Isoforms Derived from Alternative Pre-mRNA Processing.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 2, p. 315, doi. 10.1038/sj.jid.5700015
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- Publication type:
- Article
LEKTI Is Localized in Lamellar Granules, Separated from KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 124, n. 2, p. 360, doi. 10.1111/j.0022-202X.2004.23583.x
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- Publication type:
- Article
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.
- Published in:
- Nature Genetics, 2005, v. 37, n. 1, p. 56, doi. 10.1038/ng1493
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- Publication type:
- Article
Colitis Linked to Endoplasmic Reticulum Stress Induces Trypsin Activity Affecting Epithelial Functions.
- Published in:
- Journal of Crohn's & Colitis, 2021, v. 15, n. 9, p. 1528, doi. 10.1093/ecco-jcc/jjab035
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- Publication type:
- Article
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.
- Published in:
- 2010
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- Publication type:
- journal article
Mammalian HCA66 protein is required for both ribosome synthesis and centriole duplication.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 13, p. 6270, doi. 10.1093/nar/gks234
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- Publication type:
- Article
Sexual dimorphism in PAR<sub>2</sub>-dependent regulation of primitive colonic cells.
- Published in:
- Biology of Sex Differences, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13293-019-0262-6
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- Publication type:
- Article
Elafin and its precursor trappin‐2: What is their therapeutic potential for intestinal diseases?
- Published in:
- British Journal of Pharmacology, 2023, v. 180, n. 2, p. 144, doi. 10.1111/bph.15985
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- Publication type:
- Article
Active thrombin produced by the intestinal epithelium controls mucosal biofilms.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-11140-w
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- Publication type:
- Article
Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea.
- Published in:
- Nature Medicine, 2007, v. 13, n. 8, p. 975, doi. 10.1038/nm1616
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- Publication type:
- Article
Kallikrein-mediated proteolysis regulates the antimicrobial effects of cathelicidins in skin.
- Published in:
- FASEB Journal, 2006, v. 20, n. 12, p. 2068, doi. 10.1096/fj.06-6075com
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- Publication type:
- Article
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 19, p. 2417, doi. 10.1093/hmg/ddg247
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- Publication type:
- Article