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Literature DB >> 15591283

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

M T Howard, N Malik, C B Anderson, J L A Voskuil, J F Atkins, R J Gibbons.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 2004 PMID： 15591283 PMCID： PMC1735636 DOI： 10.1136/jmg.2004.020248

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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12 in total

1. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Authors: Olga L Gurvich; Baijayanta Maiti; Robert B Weiss; Gaurav Aggarwal; Michael T Howard; Kevin M Flanigan
Journal: Hum Mutat Date: 2009-04 Impact factor: 4.878

2. Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.

Authors: Gabriele Neu-Yilik; Beate Amthor; Niels H Gehring; Sharif Bahri; Helena Paidassi; Matthias W Hentze; Andreas E Kulozik
Journal: RNA Date: 2011-03-09 Impact factor: 4.942

3. Nonsense mutation-dependent reinitiation of translation in mammalian cells.

Authors: Sarit Cohen; Lior Kramarski; Shahar Levi; Noa Deshe; Oshrit Ben David; Eyal Arbely
Journal: Nucleic Acids Res Date: 2019-07-09 Impact factor: 16.971

Review 4. Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.

Authors: Karen M J Van Loo; Gemma L Carvill; Albert J Becker; Karen Conboy; Alica M Goldman; Katja Kobow; Iscia Lopes-Cendes; Christopher A Reid; Erwin A van Vliet; David C Henshall
Journal: Nat Rev Neurol Date: 2022-07-20 Impact factor: 44.711

5. Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Authors: Ching Moey; Scott Topper; Mary Karn; Amy Knight Johnson; Soma Das; Jorge Vidaurre; Cheryl Shoubridge
Journal: Eur J Hum Genet Date: 2015-08-26 Impact factor: 4.246

6. Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.

Authors: Norifumi Shioda; Hideyuki Beppu; Takaichi Fukuda; En Li; Isao Kitajima; Kohji Fukunaga
Journal: J Neurosci Date: 2011-01-05 Impact factor: 6.167

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

1. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

2. Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.

3. Nonsense mutation-dependent reinitiation of translation in mammalian cells.

Review 4. Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.

5. Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

6. Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.

7. Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

8. Human SNPs resulting in premature stop codons and protein truncation.

9. The genetic basis of non-syndromic intellectual disability: a review.

Review 10. Alpha thalassaemia-mental retardation, X linked.