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Literature DB >> 12011162

A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma.

S H Lefévre, L Chauveinc, D Stoppa-Lyonnet, J Michon, L Lumbroso, P Berthet, D Frappaz, B Dutrillaux, S Chevillard, B Malfoy.

Abstract

Entities: Chemical Disease Gene

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Year: 2002 PMID： 12011162 PMCID： PMC1735126 DOI： 10.1136/jmg.39.5.e21

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

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12 in total

1. Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Authors: Kamil J Cygan; Rachel Soemedi; Christy L Rhine; Abraham Profeta; Eileen L Murphy; Michael F Murray; William G Fairbrother
Journal: Hum Genet Date: 2017-08-05 Impact factor: 4.132

2. The N Terminus of the Retinoblastoma Protein Inhibits DNA Replication via a Bipartite Mechanism Disrupted in Partially Penetrant Retinoblastomas.

Authors: Sergiy I Borysov; Brook S Nepon-Sixt; Mark G Alexandrow
Journal: Mol Cell Biol Date: 2015-12-28 Impact factor: 4.272

Review 3. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors: David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal: Hum Genet Date: 2013-07-03 Impact factor: 4.132

4. Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

Authors: Valentina Imperatore; Anna Maria Pinto; Elisa Gelli; Eva Trevisson; Valeria Morbidoni; Elisa Frullanti; Theodora Hadjistilianou; Sonia De Francesco; Paolo Toti; Elena Gusson; Gaia Roversi; Andrea Accogli; Valeria Capra; Maria Antonietta Mencarelli; Alessandra Renieri; Francesca Ariani
Journal: Eur J Hum Genet Date: 2018-04-17 Impact factor: 4.246

5. Crystal structure of the retinoblastoma protein N domain provides insight into tumor suppression, ligand interaction, and holoprotein architecture.

Authors: Markus Hassler; Shradha Singh; Wyatt W Yue; Maciej Luczynski; Rachid Lakbir; Francisco Sanchez-Sanchez; Thomas Bader; Laurence H Pearl; Sibylle Mittnacht
Journal: Mol Cell Date: 2007-11-09 Impact factor: 17.970

6. Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

Authors: Claire Taylor; Rachel A Craven; Patricia Harnden; Peter J Selby; Rosamonde E Banks
Journal: Int J Oncol Date: 2012-07-20 Impact factor: 5.650

7. AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon.

Authors: Yuan Fu; Akio Masuda; Mikako Ito; Jun Shinmi; Kinji Ohno
Journal: Nucleic Acids Res Date: 2011-02-02 Impact factor: 16.971