A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

Author:

Villafuerte Beatriz1ORCID,Carrasco-López Carlos2,Herranz Amanda1ORCID,Garzón Lucía3,Simón Rogelio4,Natera-de-Benito Daniel5,Alikhani Pouya1,Tenorio Jair6,García-Santiago Fe7,Solis Mario8,del-Pozo Ángela8,Lapunzina Pablo6,Ortigoza-Escobar Juan Darío9,Santisteban Pilar2,Moreno José C.110ORCID

Affiliation:

1. Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), La Paz University Hospital, Madrid, Spain.

2. “Sols-Morreale” Biomedical Research Institute, Higher Council for Scientific Research (CSIC), Autonomous University of Madrid, Ciberonc, Carlos III Health Institute (ISCIII), Madrid, Spain.

3. Pediatric Endocrinology Unit, Pediatrics Department, 12 de Octubre University Hospital, Madrid, Spain.

4. Pediatric Neurology Unit, Pediatrics Department, 12 de Octubre University Hospital, Madrid, Spain.

5. Neuromuscular Diseases Unit, Pediatric Neurology, Sant Joan de Déu Hospital, Barcelona, Spain.

6. Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), ITHACA-European Reference Network, La Paz University Hospital, Madrid, Spain.

7. Cytogenetics Section, Institute for Medical and Molecular Genetics (INGEMM), Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), La Paz University Hospital, Madrid, Spain.

8. Bioinformatics Section, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), La Paz University Hospital, Madrid, Spain.

9. Movement Disorders Unit, Pediatric Neurology, Sant Joan de Déu Hospital, Barcelona, Spain.

10. Unit 735, Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), Madrid, Spain.

Publisher

Mary Ann Liebert Inc

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