Literature DB >> 1571258

A child with xeroderma pigmentosum and bone marrow failure.

S P Salob1, D K Webb, D J Atherton.   

Abstract

The case of a child with both xeroderma pigmentosum and bone marrow failure is reported. It is suggested that this is not a chance association, and that the bone marrow hypoplasia may reflect an increased susceptibility of this patient's haemopoietic stem cells to non-UV mutagens.

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Year:  1992        PMID： 1571258     DOI： 10.1111/j.1365-2133.1992.tb00681.x

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


  7 in total

1.  The Xpc gene markedly affects cell survival in mouse bone marrow.

Authors:  Joshua L Fischer; M A Suresh Kumar; Travis W Day; Tabitha M Hardy; Shari Hamilton; Cynthia Besch-Williford; Ahmad R Safa; Karen E Pollok; Martin L Smith
Journal:  Mutagenesis       Date:  2009-04-16       Impact factor: 3.000

Review 2.  Tissue-specific accelerated aging in nucleotide excision repair deficiency.

Authors:  Laura J Niedernhofer
Journal:  Mech Ageing Dev       Date:  2008-05-01       Impact factor: 5.432

Review 3.  DNA repair is crucial for maintaining hematopoietic stem cell function.

Authors:  Laura J Niedernhofer
Journal:  DNA Repair (Amst)       Date:  2008-01-08

4.  Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Authors:  Muhammad Z Ali; Jasmin Blatterer; Muzammil A Khan; Erich Schaflinger; Erwin Petek; Safeer Ahmad; Ejazullah Khan; Christian Windpassinger
Journal:  Mol Genet Genomic Med       Date:  2020-01-10       Impact factor: 2.183

5.  Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.

Authors:  Sergey Nikolaev; Andrey A Yurchenko; Alain Sarasin
Journal:  Orphanet J Rare Dis       Date:  2022-03-04       Impact factor: 4.123

6.  Unresectable and chemoresistant conjunctival squamous cell carcinoma on xeroderma pigmentosum treated by salvage radiation therapy: A case report and a review of the literature.

Authors:  Mané Maimouna; Benkhaled Sofian; Guèye Latifatou; Eyenga Joséphine Frédérique Mendouga; Gaye Papa Macoumba; Dieng Mamadou Moustapha; Van Gestel Dirk
Journal:  Clin Case Rep       Date:  2022-09-24

7.  Xpg limits the expansion of haematopoietic stem and progenitor cells after ionising radiation.

Authors:  Alush I Avila; Anett Illing; Friedrich Becker; Lars D Maerz; Yohei Morita; Melanie Philipp; Martin D Burkhalter
Journal:  Nucleic Acids Res       Date:  2016-05-02       Impact factor: 16.971
  7 in total

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