Zobrazeno 1 - 10
of 239
pro vyhledávání: '"Alan R. Lehmann"'
Autor:
Aaron Alt, Hung Q. Dang, Owen S. Wells, Luis M. Polo, Matt A. Smith, Grant A. McGregor, Thomas Welte, Alan R. Lehmann, Laurence H. Pearl, Johanne M. Murray, Antony W. Oliver
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
Structural Maintenance of Chromosomes (SMC) complexes maintain genome integrity by regulating the segregation of chromosomes. Here, Altet al. describe the structure of the heterodimeric Smc5/6-hinge from fission yeast and define functional features c
Externí odkaz:
https://doaj.org/article/562f81c7119947139341749f5cb5bcf7
Autor:
Christina L. Zheng, Nicholas J. Wang, Jongsuk Chung, Homayoun Moslehi, J. Zachary Sanborn, Joseph S. Hur, Eric A. Collisson, Swapna S. Vemula, Agne Naujokas, Kami E. Chiotti, Jeffrey B. Cheng, Hiva Fassihi, Andrew J. Blumberg, Celeste V. Bailey, Gary M. Fudem, Frederick G. Mihm, Bari B. Cunningham, Isaac M. Neuhaus, Wilson Liao, Dennis H. Oh, James E. Cleaver, Philip E. LeBoit, Joseph F. Costello, Alan R. Lehmann, Joe W. Gray, Paul T. Spellman, Sarah T. Arron, Nam Huh, Elizabeth Purdom, Raymond J. Cho
Publikováno v:
Cell Reports, Vol 9, Iss 4, Pp 1228-1234 (2014)
Somatic mutations in cancer are more frequent in heterochromatic and late-replicating regions of the genome. We report that regional disparities in mutation density are virtually abolished within transcriptionally silent genomic regions of cutaneous
Externí odkaz:
https://doaj.org/article/4bc447746133449a9b036da17031b264
Publikováno v:
European Medical Journal Dermatology, Vol 1, Iss 1, Pp 54-63 (2013)
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair. Affected individuals are unable to repair ultraviolet radiation (UVR)-induced DNA damage, leading to a variety of clinical manifestations: a dramatic increase in muco
Externí odkaz:
https://doaj.org/article/0ed3e5af45b445cf8e04a8d1de0d3b59
Autor:
Simone M. Karam, Jaderson C. Costa, Laura Jardim, Ricardo F. Pires, Alan R. Lehmann, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Vol 23, Iss 2, Pp 273-275 (2000)
Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitivity and a characteristic progressive facial appearance. In the present study we report the first Bra
Externí odkaz:
https://doaj.org/article/e06fb02fb37742848fcd360cb01fc0c0
Autor:
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang
Publikováno v:
Pediatric Neurology, 141, 79-86. Elsevier Inc.
Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. Methods: We ascertained five individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02740ae55b971306f4ea081d8bd64ad
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
Autor:
Alan R. Lehmann, Jenny Morton, Yuichiro Hara, Tomoo Ogi, Seiji Mizuno, Kohji Kato, Miho Toyama, Evangeline Wasmer
Publikováno v:
American Journal of Medical Genetics Part A. 185:282-285
The NSUN2 gene encodes a tRNA cytosine methyltransferase that functions in the maturation of leucyl tRNA (Leu) (CAA) precursors, which is crucial for the anticodon-codon pairing and correct translation of mRNA. Biallelic loss of function variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd782af648ffa450d30da83f343e657f
https://doi.org/10.1002/ajmg.a.61927
https://doi.org/10.1002/ajmg.a.61927
Autor:
Nuno Cordeiro, Hiva Fassihi, Heather Fawcett, Alan R. Lehmann, John J. DiGiovanna, Adesoji Abiona, Deborah Tamura, Sikandar G. Khan
Publikováno v:
Pediatrics. 148(4)
A teenage girl had the rare combined phenotype of xeroderma pigmentosum and trichothiodystrophy, resulting from mutations in the XPD (ERCC2) gene involved in nucleotide excision repair (NER). After treatment with antibiotics, including metronidazole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::805d584be745ab31ad39601d840fd2b0
https://pubmed.ncbi.nlm.nih.gov/34593652
https://pubmed.ncbi.nlm.nih.gov/34593652
UBR5 interacts with the replication fork and protects DNA replication from DNA polymerase η toxicity
Autor:
Chih-Chao Liang, Alan R. Lehmann, Martin A. Cohn, Federica Bertoletti, Simone Sabbioneda, Lina Cipolla, Antonio Maffia
Publikováno v:
Nucleic Acids Research
Accurate DNA replication is critical for the maintenance of genome integrity and cellular survival. Cancer-associated alterations often involve key players of DNA replication and of the DNA damage-signalling cascade. Post-translational modifications
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b73da0f9d7cdf36a841ae9c182c6d62c
https://doi.org/10.1093/nar/gkz824
https://doi.org/10.1093/nar/gkz824
Autor:
Paola Giunti, Colm Peelo, Rosella Abeti, Robert Sarkany, Alan R. Lehmann, Hiva Fassihi, Anna Zeitlberger
Publikováno v:
Br J Pharmacol
Xeroderma pigmentosum (XP) encompasses a group of rare diseases characterized in most cases by malfunction of nucleotide excision repair (NER), which results in an increased sensitivity to UV radiation in affected individuals. Approximately 25-30% of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3540fa765be551c013f73e9bb8653893
https://doi.org/10.1111/bph.14557
https://doi.org/10.1111/bph.14557
Autor:
Hiva Fassihi, Alan R. Lehmann
Publikováno v:
DNA repair. 93
Xeroderma pigmentosum (XP) is a well-studied disorder of (in most cases) nucleotide excision repair. The establishment in 2010 of a multidisciplinary XP clinic in the UK has enabled us to make a detailed analysis of genotype-phenotype relationships i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f48b9a282f836d0334976710c99dca
https://pubmed.ncbi.nlm.nih.gov/33087273
https://pubmed.ncbi.nlm.nih.gov/33087273