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Literature DB >> 11137984

The power of point mutations.

L E Maquat.

Abstract

Mesh：

Substances：

Year: 2001 PMID： 11137984 DOI： 10.1038/83759

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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11 in total

1. Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame.

Authors: Marc Bühler; Oliver Mühlemann
Journal: RNA Date: 2004-12-21 Impact factor: 4.942

2. Nonsense-associated alternative splicing of T-cell receptor beta genes: no evidence for frame dependence.

Authors: Fabio Mohn; Marc Bühler; Oliver Mühlemann
Journal: RNA Date: 2004-12-21 Impact factor: 4.942

Review 3. Splicing in action: assessing disease causing sequence changes.

Authors: D Baralle; M Baralle
Journal: J Med Genet Date: 2005-10 Impact factor: 6.318

4. Genetic variations in KIFC1 and the risk of aspirin exacerbated respiratory disease in a Korean population: an association analysis.

Authors: Charisse Flerida A Pasaje; Joon Seol Bae; Byung-Lae Park; Jeong-Hyun Kim; Hyun Sub Cheong; Soo-Taek Uh; Choon-Sik Park; Hyoung Doo Shin
Journal: Mol Biol Rep Date: 2011-12-27 Impact factor: 2.316

5. Molecular characterization of myostatin (MSTN) gene and association analysis with growth traits in the bighead carp (Aristichthys nobilis).

Authors: Lusha Liu; Xiaomu Yu; Jingou Tong
Journal: Mol Biol Rep Date: 2012-06-20 Impact factor: 2.316

6. Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.

Authors: Hui Wu; Susan A Boackle; Punchong Hanvivadhanakul; Daniela Ulgiati; Jennifer M Grossman; Youngho Lee; Nan Shen; Lawrence J Abraham; Timothy R Mercer; Elly Park; Lee A Hebert; Brad H Rovin; Dan J Birmingham; Deh-Ming Chang; Chung Jen Chen; Deborah McCurdy; Humeira M Badsha; Bernard Y H Thong; Hiok H Chng; Frank C Arnett; Daniel J Wallace; C Yung Yu; Bevra H Hahn; Rita M Cantor; Betty P Tsao
Journal: Proc Natl Acad Sci U S A Date: 2007-02-22 Impact factor: 11.205

The power of point mutations.

1. Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame.

2. Nonsense-associated alternative splicing of T-cell receptor beta genes: no evidence for frame dependence.

Review 3. Splicing in action: assessing disease causing sequence changes.

4. Genetic variations in KIFC1 and the risk of aspirin exacerbated respiratory disease in a Korean population: an association analysis.

5. Molecular characterization of myostatin (MSTN) gene and association analysis with growth traits in the bighead carp (Aristichthys nobilis).

6. Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.

7. Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.

8. Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients.

9. WDR46 is a Genetic Risk Factor for Aspirin-Exacerbated Respiratory Disease in a Korean Population.

Review 10. Defective splicing, disease and therapy: searching for master checkpoints in exon definition.