Found: 14
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Increased On-Target Rate and Risk of Concatemerization after CRISPR-Enhanced Targeting in ES Cells.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 401, doi. 10.3390/genes14020401
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- Article
Aneuploidy screening of embryonic stem cell clones by metaphase karyotyping and droplet digital polymerase chain reaction.
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- BMC Cell Biology, 2016, v. 17, p. 1, doi. 10.1186/s12860-016-0108-6
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- Article
Role of the BAHD1 Chromatin-Repressive Complex in Placental Development and Regulation of Steroid Metabolism.
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- PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005898
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- Article
Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/ NFS1/ISD11 Iron-Sulfur Assembly Complex.
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- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016199
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- Article
The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia.
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- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006379
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- Article
Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe–S proteins.
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- FEBS Journal, 2009, v. 276, n. 4, p. 1036, doi. 10.1111/j.1742-4658.2008.06847.x
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- Article
Frataxin is essential for extramitochondrial Fe–S cluster proteins in mammalian tissues.
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- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2651, doi. 10.1093/hmg/ddm163
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- Article
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
- Published in:
- Human Genetics, 2005, v. 117, n. 6, p. 528, doi. 10.1007/s00439-005-1332-x
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- Article
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
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- Human Mutation, 2005, v. 25, n. 6, p. 543, doi. 10.1002/humu.20172
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- Article
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
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- Human Molecular Genetics, 2002, v. 11, n. 23, p. 2829, doi. 10.1093/hmg/11.23.2829
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- Article
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
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- Journal of Molecular Medicine, 2002, v. 80, n. 2, p. 124, doi. 10.1007/s00109-001-0310-6
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- Article
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
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- Human Mutation, 2001, v. 18, n. 2, p. 101, doi. 10.1002/humu.1159
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- Article
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.
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- Human Genetics, 2001, v. 108, n. 2, p. 140, doi. 10.1007/s004390000453
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- Article
Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 59, doi. 10.1038/83768
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- Article