A progeroid syndrome caused by a deep intronic variant in <i>TAPT1</i> is revealed by RNA/SI‐NET sequencing-Reference-Cited by-同舟云学术

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

Published:2023-01-18 Issue:2 Volume:15 Page:
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Nabavizadeh Nasrinsadat¹²³^ORCID,Bressin Annkatrin⁴^ORCID,Shboul Mohammad⁵^ORCID,Moreno Traspas Ricardo¹^ORCID,Chia Poh Hui¹,Bonnard Carine⁶,Szenker‐Ravi Emmanuelle¹,Sarıbaş Burak¹³^ORCID,Beillard Emmanuel⁷^ORCID,Altunoglu Umut³,Hojati Zohreh²^ORCID,Drutman Scott⁸,Freier Susanne⁴,El‐Khateeb Mohammad⁹,Fathallah Rajaa⁹,Casanova Jean‐Laurent⁸¹⁰¹¹¹²¹³,Soror Wesam⁹,Arafat Alaa⁹,Escande‐Beillard Nathalie³¹⁴^ORCID,Mayer Andreas⁴^ORCID,Reversade Bruno¹³¹⁴¹⁵¹⁶^ORCID

Affiliation:

1. Laboratory of Human Genetics & Therapeutics Genome Institute of Singapore, A*STAR Singapore City Singapore

2. Division of Genetics, Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology University of Isfahan Isfahan Iran

3. Medical Genetics Department Koç University School of Medicine Istanbul Turkey

4. Max Planck Institute for Molecular Genetics Berlin Germany

5. Department of Medical Laboratory Sciences Jordan University of Science and Technology Irbid Jordan

6. Model Development, A*STAR Skin Research Labs (A*SRL) Singapore City Singapore

7. Department of Biopathology Centre Léon Bérard Lyon France

8. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch Rockefeller University New York NY USA

9. National Center for Diabetes, Endocrinology and Genetics Amman Jordan

10. Laboratory of Human Genetics of Infectious Diseases, Necker Branch INSERM U1163, Necker Hospital for Sick Children Paris France

11. Imagine Institute University of Paris Paris France

12. Howard Hughes Medical Institute New York NY USA

13. Pediatric Hematology and Immunology Unit Necker Hospital for Sick Children Paris France

14. Institute of Molecular and Cell Biology, A*STAR Singapore City Singapore

15. Department of Paediatrics National University of Singapore Singapore City Singapore

16. Smart‐Health Initiative, BESE, KAUST Thuwal Kingdom of Saudi Arabia

Funder

Agency for Science, Technology and Research

Branco Weiss Fellowship – Society in Science

Deutsche Forschungsgemeinschaft

European Molecular Biology Organization

Max-Planck-Gesellschaft

Türkiye Bilimsel ve Teknolojik Araştırma Kurumu

Publisher

Springer Science and Business Media LLC

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.202216478

Reference77 articles.

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5. Molecular Cloning and Expression of Receptor Peptides That Block Human Cytomegalovirus/Cell Fusion

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