Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction

Autor: Helmut Hanenberg, R Dietrich, S. Lobitz, Richard Friedl, Michaela Gross, Detlev Schindler, Holger Hoehn, S. Herterich, B. Gruhn

Publikováno v: Cytogenetic and Genome Research. 98:126-135

Fanconi anemia (FA) is a genetically and phenotypically heterogenous autosomal recessive disease associated with chromosomal instability and hypersensitivity to DNA crosslinkers. Prognosis is poor due to progressive bone marrow failure and increased

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdaf1714ed54063b04ce44493487ac8a
https://doi.org/10.1159/000069805

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP

Autor: Johan P. de Winter, Richard Friedl, Kerstin Knies, Beatrice Schuster, Eunike Velleuer, Birgit Gottwald-Mühlhauser, Chantal Stoepker, Detlev Schindler

Publikováno v: Schuster, B, Knies, K, Stoepker, C, Velleuer, E, Friedl, R, Gottwald-Muhlhauser, B, de Winter, J P & Schindler, D 2013, ' Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene SLX4/FANCP ', Human Mutation, vol. 34, no. 1, pp. 93-96 . https://doi.org/10.1002/humu.22221
Human Mutation, 34(1), 93-96. Wiley-Liss Inc.

Fanconi anemia (FA) is a rare genetic disorder characterized by congenital malformations, progressive bone marrow failure (BMF), and susceptibility to malignancies. FA is caused by biallelic or hemizygous mutations in one of 15 known FA genes, whose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f530a556e1c95097e4e28324b57e519
https://pubmed.ncbi.nlm.nih.gov/23033263

Disruption of the FA/BRCA pathway in bladder cancer

Autor: Michael Schmid, Margaret A. Knowles, Reinhard Kalb, Helmut Hanenberg, Wolfgang A. Schulz, Kornelia Neveling, Richard Friedl, S. Herterich, Andrea R. Florl, F H Hartmann, Carolyn D. Hurst, Claus Steinlein, Detlev Schindler, C Hader, Holger Tönnies, Indrajit Nanda, Holger Hoehn

Publikováno v: Cytogenetic and genome research. 118(2-4)

Bladder carcinomas frequently show extensive deletions of chromosomes 9p and/or 9q, potentially including the loci of the Fanconi anemia (FA) genes FANCC and FANCG. FA is a rare recessive disease due to defects in anyone of 13 FANC genes manifesting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3396b24fc48bd2126ebd8013879a7f8b
https://pubmed.ncbi.nlm.nih.gov/18000367

Applications of Cell Cycle Testing in Fanconi Anemia

Autor: Richard Friedl, Yvonne Linka, Holger Hoehn, Ioannis Gavvovidis, Helmut Hanenberg, Reinhard Kalb, M. Kubbies, Kornelia Neveling, Detlev Schindler

Chromosome breakage analysis following exposure of cultured cells to DNAcrosslinking agents has long been considered the ‘gold standard’ for the confirmation or exclusion of Fanconi anemia (FA). Cel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::476b8c4304dcea8ba5798103b0d15e99
https://doi.org/10.1159/000102552

Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot study

Autor: Holger Hoehn, Kornelia Neveling, Ioannis Gavvovidis, Astrid Bechtold, Richard Friedl, Reinhard Kalb, Sabine Herterich, Detlev Schindler, Benni Gottwald

Publikováno v: Fetal diagnosis and therapy. 21(1)

Objective: To explore the potential of flow cytometry in the prenatal exclusion or confirmation of Fanconi anemia (FA). Methods: Indications for prenatal diagnosis were (1) FA-negative family history, but suspicious ultrasound findings such as radial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce193704f331498d7c745c1e0cb7729
https://pubmed.ncbi.nlm.nih.gov/16354989