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Page 1
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Marsh JCW, Gutierrez-Rodrigues F, Cooper J, Jiang J, Gandhi S, Kajigaya S, Feng X, Ibanez MDPF, Donaires FS, Lopes da Silva JP, Li Z, Das S, Ibanez M, Smith AE, Lea N, Best S, Ireland R, Kulasekararaj AG, McLornan DP, Pagliuca A, Callebaut I, Young NS, Calado RT, Townsley DM, Mufti GJ. Marsh JCW, et al. Among authors: callebaut i. Blood Adv. 2018 Jan 4;2(1):36-48. doi: 10.1182/bloodadvances.2017008110. eCollection 2018 Jan 9. Blood Adv. 2018. PMID: 29344583 Free PMC article.
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: callebaut i. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B. Kannengiesser C, et al. Among authors: callebaut i. Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28. Eur Respir J. 2015. PMID: 26022962 Free article.
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.
Touzot F, Kermasson L, Jullien L, Moshous D, Ménard C, Ikincioğullari A, Doğu F, Sari S, Giacobbi-Milet V, Etzioni A, Soulier J, Londono-Vallejo A, Fischer A, Callebaut I, de Villartay JP, Leblanc T, Kannengiesser C, Revy P. Touzot F, et al. Among authors: callebaut i. Blood Adv. 2016 Nov 22;1(1):36-46. doi: 10.1182/bloodadvances.2016001313. eCollection 2016 Nov 29. Blood Adv. 2016. PMID: 29296694 Free PMC article.
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero A, Oleastro M, Abdo C, de Villartay JP, Géli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P. Kermasson L, et al. Among authors: callebaut i. Blood. 2022 Apr 21;139(16):2427-2440. doi: 10.1182/blood.2021010791. Blood. 2022. PMID: 35007328 Free PMC article.
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J. Bellanné-Chantelot C, et al. Among authors: callebaut i. Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18. Blood. 2018. PMID: 29914977 Free PMC article.
SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations.
Takedachi A, Despras E, Scaglione S, Guérois R, Guervilly JH, Blin M, Audebert S, Camoin L, Hasanova Z, Schertzer M, Guille A, Churikov D, Callebaut I, Naim V, Chaffanet M, Borg JP, Bertucci F, Revy P, Birnbaum D, Londoño-Vallejo A, Kannouche PL, Gaillard PHL. Takedachi A, et al. Among authors: callebaut i. Nat Struct Mol Biol. 2020 May;27(5):438-449. doi: 10.1038/s41594-020-0419-3. Epub 2020 May 11. Nat Struct Mol Biol. 2020. PMID: 32398829
308 results