Literature DB >> 30914417

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Alain Sarasin1, Samuel Quentin2,3,4, Nathalie Droin5,6, Mourad Sahbatou7, Véronique Saada8, Nathalie Auger8, Yannick Boursin9, Philippe Dessen9, Anna Raimbault2,3,4, Vahid Asnafi10, Jean-Luc Schmutz11, Alain Taïeb12, Carlos F M Menck13, Filippo Rosselli1, Laurianne Drieu La Rochelle14, Caroline Robert15, Flore Sicre de Fontbrune4,16, Marie Sébert4,17, Thierry Leblanc18, Patricia Kannouche1, Stéphane De Botton6, Eric Solary5,6, Jean Soulier2,3,4.   

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Year:  2019        PMID： 30914417      PMCID： PMC6610036          DOI： 10.1182/blood-2019-01-895698

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  19 in total

Review 1.  New insights for understanding the transcription-coupled repair pathway.

Authors:  Alain Sarasin; Anne Stary
Journal:  DNA Repair (Amst)       Date:  2006-12-27

2.  Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

Authors:  Sikandar G Khan; Kyu-Seon Oh; Tala Shahlavi; Takahiro Ueda; David B Busch; Hiroki Inui; Steffen Emmert; Kyoko Imoto; Vanessa Muniz-Medina; Carl C Baker; John J DiGiovanna; Deborah Schmidt; Arash Khadavi; Ahmet Metin; Engin Gozukara; Hanoch Slor; Alain Sarasin; Kenneth H Kraemer
Journal:  Carcinogenesis       Date:  2005-08-04       Impact factor: 4.944

3.  Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.

Authors:  Yassamine Doubaj; Fatima-Zahra Laarabi; Siham Chafai Elalaoui; Amina Barkat; Abdelaziz Sefiani
Journal:  J Dermatol       Date:  2011-12-29       Impact factor: 4.005

4.  Inherited DDX41 mutations: 11 genes and counting.

Authors:  Kiran Tawana; Jude Fitzgibbon
Journal:  Blood       Date:  2016-02-25       Impact factor: 22.113

5.  Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

Authors:  S Hadj-Rabia; D Oriot; N Soufir; H Dufresne; E Bourrat; S Mallet; N Poulhalon; K Ezzedine; E Ezzedine; B Grandchamp; A Taïeb; B Catteau; A Sarasin; C Bodemer
Journal:  Br J Dermatol       Date:  2013-05       Impact factor: 9.302

Review 6.  Germline Genetic Predisposition to Hematologic Malignancy.

Authors:  Elissa Furutani; Akiko Shimamura
Journal:  J Clin Oncol       Date:  2017-02-13       Impact factor: 44.544

7.  Pooled analysis of clinical and cytogenetic features in treatment-related and de novo adult acute myeloid leukemia and myelodysplastic syndromes based on a consecutive series of 761 patients analyzed 1976-1993 and on 5098 unselected cases reported in the literature 1974-2001.

Authors:  N Mauritzson; M Albin; L Rylander; R Billström; T Ahlgren; Z Mikoczy; J Björk; U Strömberg; P G Nilsson; F Mitelman; L Hagmar; B Johansson
Journal:  Leukemia       Date:  2002-12       Impact factor: 11.528

8.  p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C.

Authors:  G Giglia; N Dumaz; C Drougard; M F Avril; L Daya-Grosjean; A Sarasin
Journal:  Cancer Res       Date:  1998-10-01       Impact factor: 12.701

9.  Cancer incidence and survival in adolescents and young adults in France, 2000-2008.

Authors:  Emmanuel Desandes; Brigitte Lacour; Aurélien Belot; Florence Molinie; Patricia Delafosse; Brigitte Tretarre; Michel Velten; Erik-André Sauleau; Anne-Sophie Woronoff; Anne-Valérie Guizard; Olivier Ganry; Simona Bara; Pascale Grosclaude; Xavier Troussard; Véronique Bouvier; Laurence Brugieres; Jacqueline Clavel
Journal:  Pediatr Hematol Oncol       Date:  2013-01-30       Impact factor: 1.969

10.  Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Authors:  Terrence N Wong; Giridharan Ramsingh; Andrew L Young; Christopher A Miller; Waseem Touma; John S Welch; Tamara L Lamprecht; Dong Shen; Jasreet Hundal; Robert S Fulton; Sharon Heath; Jack D Baty; Jeffery M Klco; Li Ding; Elaine R Mardis; Peter Westervelt; John F DiPersio; Matthew J Walter; Timothy A Graubert; Timothy J Ley; Todd Druley; Daniel C Link; Richard K Wilson
Journal:  Nature       Date:  2014-12-08       Impact factor: 49.962
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  12 in total

1.  Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.

Authors:  Karolyn A Oetjen; Melissa A Levoska; Deborah Tamura; Sawa Ito; Dorothea Douglas; Sikandar G Khan; Katherine R Calvo; Kenneth H Kraemer; John J DiGiovanna
Journal:  Haematologica       Date:  2019-08-22       Impact factor: 9.941

Review 2.  Xeroderma Pigmentosum: A Model for Human Premature Aging.

Authors:  Elizabeth R H Rizza; John J DiGiovanna; Sikandar G Khan; Deborah Tamura; Jack D Jeskey; Kenneth H Kraemer
Journal:  J Invest Dermatol       Date:  2021-01-09       Impact factor: 8.551

Review 3.  Xeroderma pigmentosum: an updated review.

Authors:  Alexander Kc Leung; Benjamin Barankin; Joseph M Lam; Kin Fon Leong; Kam Lun Hon
Journal:  Drugs Context       Date:  2022-04-25

4.  MultiVERSE: a multiplex and multiplex-heterogeneous network embedding approach.

Authors:  Léo Pio-Lopez; Alberto Valdeolivas; Laurent Tichit; Élisabeth Remy; Anaïs Baudot
Journal:  Sci Rep       Date:  2021-04-22       Impact factor: 4.379

Review 5.  Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.

Authors:  Serine Avagyan; Akiko Shimamura
Journal:  Front Oncol       Date:  2022-03-09       Impact factor: 6.244

6.  Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.

Authors:  S D Kouatcheu; J Marko; D Tamura; S G Khan; C R Lee; J J DiGiovanna; K H Kraemer
Journal:  J Endocrinol Invest       Date:  2020-11-05       Impact factor: 5.467

7.  Cooperation and interplay between base and nucleotide excision repair pathways: From DNA lesions to proteins.

Authors:  Namrata Kumar; Natália C Moreno; Bruno C Feltes; Carlos Fm Menck; Bennett Van Houten
Journal:  Genet Mol Biol       Date:  2020-03-02       Impact factor: 1.771

8.  XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.

Authors:  Andrey A Yurchenko; Ismael Padioleau; Bakhyt T Matkarimov; Jean Soulier; Alain Sarasin; Sergey Nikolaev
Journal:  Nat Commun       Date:  2020-11-17       Impact factor: 14.919

Review 9.  DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.

Authors:  Richa Sharma; Sara Lewis; Marcin W Wlodarski
Journal:  Front Pediatr       Date:  2020-10-23       Impact factor: 3.418

10.  XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil.

Authors:  Ligia Pereira Castro; Danilo Batista-Vieira; Tiago Antonio de Souza; Ana Rafaela de Souza Timoteo; Jessica Dayanna Landivar Coutinho; Isabel Cristina Pinheiro de Almeida; Sheila Ramos de Miranda Henriques; Fabio Medeiros de Azevedo; Reginaldo Cruz Alves Rosa; Patricia L Kannouche; Alain Sarasin; Carlos Frederico Martins Menck; Tirzah Braz Petta
Journal:  Front Genet       Date:  2022-01-17       Impact factor: 4.599
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