Literature DB >> 31017654

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect.

M Kgokolo1, F Morice-Picard2, H R Rezvani2,3, F Austerlitz4, F Cartault5, A Sarasin6, M Sathekge1, A Taieb2,3, C Ged2,3.   

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Year:  2019        PMID： 31017654     DOI： 10.1111/bjd.18030

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  4 in total

1.  How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients.

Authors:  Alain Sarasin; Patrick Munier; François Cartault
Journal:  Genet Mol Biol       Date:  2019-12-13       Impact factor: 1.771

2.  Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.

Authors:  Eman Rabie; Khalda Amr; Suher Zada; Heba El-Sayed; Mohamad El Darouti; Ghada El-Kamah
Journal:  Genes (Basel)       Date:  2021-02-20       Impact factor: 4.096

3.  Elevated Levels of Soluble CTLA-4, PD-1, PD-L1, LAG-3 and TIM-3 and Systemic Inflammatory Stress as Potential Contributors to Immune Suppression and Generalized Tumorigenesis in a Cohort of South African Xeroderma Pigmentosum Patients.

Authors:  Mahlatse C M Kgokolo; Katherine Anderson; Shalate C Siwele; Helen C Steel; Luyanda L I Kwofie; Mike M Sathekge; Pieter W A Meyer; Bernardo L Rapoport; Ronald Anderson
Journal:  Front Oncol       Date:  2022-02-11       Impact factor: 6.244

4.  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
  4 in total

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