BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients-Reference-Cited by-同舟云学术

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Published:2023-06-21 Issue:9 Volume:31 Page:1023-1031
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Engel Camille^ORCID,Valence Stéphanie^ORCID,Delplancq Geoffroy,Maroofian Reza,Accogli Andrea,Agolini Emanuele,Alkuraya Fowzan S.^ORCID,Baglioni Valentina,Bagnasco Irene,Becmeur-Lefebvre Mathilde^ORCID,Bertini Enrico^ORCID,Borggraefe Ingo,Brischoux-Boucher Elise^ORCID,Bruel Ange-Line^ORCID,Brusco Alfredo^ORCID,Bubshait Dalal K.,Cabrol Christelle,Cilio Maria Roberta,Cornet Marie-Coralie^ORCID,Coubes Christine,Danhaive Olivier,Delague Valérie^ORCID,Denommé-Pichon Anne-Sophie^ORCID,Di Giacomo Marilena Carmela,Doco-Fenzy Martine,Engels Hartmut^ORCID,Cremer Kirsten,Gérard Marion,Gleeson Joseph G.^ORCID,Heron Delphine,Goffeney Joanna,Guimier Anne,Harms Frederike L.^ORCID,Houlden Henry^ORCID,Iacomino Michele,Kaiyrzhanov Rauan,Kamien Benjamin,Karimiani Ehsan Ghayoor,Kraus Dror,Kuentz Paul^ORCID,Kutsche Kerstin,Lederer Damien,Massingham Lauren,Mignot Cyril,Morris-Rosendahl Déborah^ORCID,Nagarajan Lakshmi,Odent Sylvie,Ormières Clothilde,Partlow Jennifer Neil,Pasquier Laurent^ORCID,Penney Lynette,Philippe Christophe^ORCID,Piccolo Gianluca^ORCID,Poulton Cathryn,Putoux Audrey,Rio Marlène,Rougeot Christelle,Salpietro Vincenzo^ORCID,Scheffer Ingrid,Schneider Amy^ORCID,Srivastava Siddharth^ORCID,Straussberg Rachel,Striano Pasquale^ORCID,Valente Enza Maria^ORCID,Venot Perrine,Villard Laurent^ORCID,Vitobello Antonio^ORCID,Wagner Johanna,Wagner Matias^ORCID,Zaki Maha S.^ORCID,Zara Federizo,Lesca Gaetan^ORCID,Yassaee Vahid Reza,Miryounesi Mohammad,Hashemi-Gorji Farzad^ORCID,Beiraghi Mehran,Ashrafzadeh Farah,Galehdari Hamid,Walsh Christopher^ORCID,Novelli Antonio^ORCID,Tacke Moritz,Sadykova Dinara,Maidyrov Yerdan,Koneev Kairgali,Shashkin Chingiz,Capra Valeria,Zamani Mina,Van Maldergem Lionel,Burglen Lydie^ORCID,Piard Juliette^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01410-z.pdf

Reference43 articles.

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2. Ouchi M, Ouchi T. Regulation of ATM/DNA-PKcs phosphorylation by BRCA1-associated BAAT1. Genes Cancer. 2010;1:1211–4.

3. So EY, Ouchi T. The potential role of BRCA1-associated ATM activator-1 (BRAT1) in regulation of mTOR. J Cancer Biol Res. 2013;1:1001.

4. So EY, Ouchi T. BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction. BMC Cancer. 2014;14:548.

5. Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE. 2012;7:e28936.

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