Literature DB >> 30888641

Correction to: Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Anna Abramowicz1, Monika Gos2.   

Abstract

The original version on this paper contained an error. The first names and last names of Anna Abramowicz and Monika Gos are inadvertently interchanged and are incorrectly displayed in indexing sites. The correct names are presented above.

Entities:  

Year:  2019        PMID： 30888641      PMCID： PMC6828417          DOI： 10.1007/s13353-019-00493-z

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  7 in total

1.  Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.

Authors:  Romina Celeste Geysels; Carlos Eduardo Bernal Barquero; Mariano Martín; Victoria Peyret; Martina Nocent; Gabriela Sobrero; Liliana Muñoz; Malvina Signorino; Graciela Testa; Ricardo Belisario Castro; Ana María Masini-Repiso; Mirta Beatriz Miras; Juan Pablo Nicola
Journal:  Front Endocrinol (Lausanne)       Date:  2022-05-04       Impact factor: 6.055

2.  Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

Authors:  Cécile Saint-Martin; Marine Cauchois-Le Mière; Emily Rex; Omar Soukarieh; Jean-Baptiste Arnoux; Julien Buratti; Delphine Bouvet; Thierry Frébourg; Pascaline Gaildrat; Show-Ling Shyng; Christine Bellanné-Chantelot; Alexandra Martins
Journal:  Hum Mutat       Date:  2021-01-28       Impact factor: 4.878

Review 3.  Intrinsic Regulatory Role of RNA Structural Arrangement in Alternative Splicing Control.

Authors:  Katarzyna Taylor; Krzysztof Sobczak
Journal:  Int J Mol Sci       Date:  2020-07-21       Impact factor: 5.923

4.  A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells.

Authors:  Laurence Klipfel; Marie Cordonnier; Léa Thiébault; Emmanuelle Clérin; Frédéric Blond; Géraldine Millet-Puel; Saddek Mohand-Saïd; Olivier Goureau; José-Alain Sahel; Emeline F Nandrot; Thierry Léveillard
Journal:  Cells       Date:  2021-01-18       Impact factor: 6.600

Review 5.  The Interplay of Cohesin and RNA Processing Factors: The Impact of Their Alterations on Genome Stability.

Authors:  Michaela Osadska; Tomas Selicky; Miroslava Kretova; Jan Jurcik; Barbara Sivakova; Ingrid Cipakova; Lubos Cipak
Journal:  Int J Mol Sci       Date:  2022-04-01       Impact factor: 5.923

6.  A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.

Authors:  Pawel Matusik; Agnieszka Gach; Olimpia Zajdel-Cwynar; Iwona Pinkier; Grzegorz Kudela; Aneta Gawlik
Journal:  Int J Environ Res Public Health       Date:  2021-07-05       Impact factor: 3.390

7.  The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.

Authors:  Marcella Neri; Rachele Rossi; Cecilia Trabanelli; Antonio Mauro; Rita Selvatici; Maria Sofia Falzarano; Noemi Spedicato; Alice Margutti; Paola Rimessi; Fernanda Fortunato; Marina Fabris; Francesca Gualandi; Giacomo Comi; Silvana Tedeschi; Manuela Seia; Chiara Fiorillo; Monica Traverso; Claudio Bruno; Emiliano Giardina; Maria Rosaria Piemontese; Giuseppe Merla; Milena Cau; Monica Marica; Carmela Scuderi; Eugenia Borgione; Alessandra Tessa; Guia Astrea; Filippo Maria Santorelli; Luciano Merlini; Marina Mora; Pia Bernasconi; Sara Gibertini; Valeria Sansone; Tiziana Mongini; Angela Berardinelli; Antonella Pini; Rocco Liguori; Massimiliano Filosto; Sonia Messina; Gianluca Vita; Antonio Toscano; Giuseppe Vita; Marika Pane; Serenella Servidei; Elena Pegoraro; Luca Bello; Lorena Travaglini; Enrico Bertini; Adele D'Amico; Manuela Ergoli; Luisa Politano; Annalaura Torella; Vincenzo Nigro; Eugenio Mercuri; Alessandra Ferlini
Journal:  Front Genet       Date:  2020-03-03       Impact factor: 4.599
  7 in total

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