Results 241 to 250 of about 1,404,124 (275)

An Alternate Translation Initiation Site Circumvents an Amino-Terminal DAX1 Nonsense Mutation Leading to a Mild Form of X-Linked Adrenal Hypoplasia Congenita

, 2003
Gökhan Özışık, Giovanna Mantovani, John C. Achermann, Luca Persani, Anna Spada, Jeffrey Weiss, Paolo Beck‐Peccoz, J. Larry Jameson   +7 more
openalex   +1 more source

The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden. [PDF]

BMC Neurol
Golli T, Juříková L, Sejersen T, Dixon C.   +3 more
europepmc   +1 more source

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Immunodeficiency Associated with a Nonsense Mutation of IKBKB

Journal of Clinical Immunology, 2014
We report an infant of consanguineous parents of Turkish decent with a novel immunodeficiency associated with homozygosity for a nonsense mutation of the gene encoding Inhibitor of nuclear factor kappa-B (NF-κB) kinase subunit beta (IKKβ). At five months, she presented with respiratory insufficiency and Pneumocystis jirovecii pneumonia which was ...
Niels Fisker, Martin Jakob Larsen, Martin Jakob Larsen, Torben Barington, Marianne Antonius Jakobsen, Søren Hansen, Amanda Cecilie Müller, Christian Nielsen, Søren Thue Lillevang   +8 more
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KIAA2022 nonsense mutation in a symptomatic female

American Journal of Medical Genetics Part A, 2015
Mutations in the KIAA2022 gene have been implicated in non‐syndromic X‐linked intellectual disability. Thus far, all carrier females reported have been unaffected and genotype–phenotype correlations have not been described. Herein, we report a de novo KIAA2022 nonsense mutation in a 17‐year‐old female with short stature, microcephaly, severe ...
Hope Northrup, Laura S. Farach
openaire   +4 more sources

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

Journal of Medical Genetics, 2014
Usher syndrome (USH) is a heterogeneous group of inherited retinitis pigmentosa (RP) and sensorineural hearing loss (SNHL) caused by mutations in at least 12 genes. Our aim is to identify additional USH-related genes.Clinical examination included visual acuity test, funduscopy and electroretinography.
Liliana Mizrahi-Meissonnier, Lina Zelinger, Carmen Ayuso, Dror Sharon, Eyal Banin, Robert K. Koenekoop, Uri Laxer, Menachem Gross, Samer Khateb   +8 more
openaire   +4 more sources

Nonsense Mutations in Eukaryotes

Biochemistry (Moscow), 2022
Nonsense mutations are a type of mutations which results in a premature termination codon occurrence. In general, these mutations have been considered to be among the most harmful ones which lead to premature protein translation termination and result in shortened nonfunctional polypeptide. However, there is evidence that not all nonsense mutations are
openaire   +2 more sources

A novel nonsense mutation in the human dystrophin gene

Human Mutation, 1993
Several lines of research recently pointed to- ward the identification of minor structural alter- ations and nucleotide substitutions that together are responsible for the 30% of mutations among patients affected with the X-linked Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (Bulman et al., 1991; Clemens et al.,
Saad FA, Vita G, Mora M, Morandi L, Vitiello L, OLIVIERO, Salvatore, Danieli G.A.   +6 more
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Aminoglycoside suppression of nonsense mutations in severe hemophilia [PDF]

Blood, 2005
AbstractAminoglycoside antibiotics exhibit their bactericidal effect by interfering with normal ribosomal activity. In this pilot study, we have evaluated the effect of the aminoglycoside antibiotic gentamicin on the factor VIII (FVIII) and IX levels of severe hemophiliacs with known nonsense mutations.
Susan McKenna, David Lillicrap, Man-Chiu Poon, Margaret Warner, Paula D. James, Jayne Leggo, Georges E. Rivard, Sanj Raut   +7 more
openaire   +2 more sources