Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns

Autor: Simon Grund Sørensen, Amruta Shrikhande, Gustav Alexander Poulsgaard, Mikkel Hovden Christensen, Johanna Bertl, Britt Elmedal Laursen, Eva R Hoffmann, Jakob Skou Pedersen

Publikováno v: Sørensen, S G, Shrikhande, A, Poulsgaard, G A, Christensen, M H, Bertl, J, Laursen, B E, Hoffmann, E R & Pedersen, J S 2023, ' Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns ', eLife, vol. 12 . https://doi.org/10.7554/eLife.81224
Sørensen, S G, Shrikhande, A, Poulsgaard, G A, Christensen, M H, Bertl, J, Laursen, B E, Hoffmann, E R & Pedersen, J S 2023, ' Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns ', eLife, vol. 12, e81224 . https://doi.org/10.7554/elife.81224

DNA repair deficiencies in cancers may result in characteristic mutational patterns, as exemplified by deficiency of BRCA1/2 and efficacy prediction for PARP inhibitors. We trained and evaluated predictive models for loss-of-function (LOF) of 145 ind

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8fdd0c0855124ac5e59edd15de56b8
https://pure.au.dk/portal/da/publications/pancancer-association-of-dna-repair-deficiencies-with-wholegenome-mutational-patterns(6d841269-ef5f-41e2-a050-6f671e6994dd).html

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Publikováno v: Human Molecular Genetics. 27(3):529-545

DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital hear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::29715cb1fa9b3eb34aae8376eed1a930
https://doi.org/10.1093/hmg/ddx422

High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism

Autor: Catarina I Gonçalves, Sofia Martins, Filipa M. Patriarca, Manuel C. Lemos, José M. Aragüés, Bernardo Dias Pereira, Fernando Campos de Assis Fonseca, Olinda Marques, José Martinez-de-Oliveira, Davide Carvalho

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Scientific Reports, Vol 9, Iss 1, Pp 1-6 (2019)
Scientific Reports

Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62f8d89bdf7867dd95716c4d911e0eb
https://hdl.handle.net/10216/136291

Lack of IL7R alpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)

Autor: Arend Bökenkamp, Kira Y. Dionis-Petersen, Lan Xiang Liu, Neeraja Kambham, Helen Fryssira, Ayşe İpek Polat, Mattia Gentile, C. Nur Semerci, Tracy E. Hunley, Katarina Mitrovic, Behzad Najafian, Radovan Bogdanovic, Mrinmoy Sanyal, Uluç Yiş, Encarna Guillen-Navarro, Katie Felix, Marie Morimoto, Christy Mayfield, Alireza Baradaran-Heravi, Thomas Lücke, Susan A. Berry, Cornelius F. Boerkoel, David B. Lewis, Kent P. Jensen, Kunho Choi, Lydia Najera, Giuliana Lama, Suparna Dutt, Michel Tsimaratos, Ann Haskins Olney, Benjamin Dekel, Milena Brugnara

Publikováno v: Clinical Immunology, 161(2), 355-365. Academic Press Inc.
Sanyal, M, Morimoto, M, Baradaran-Heravi, A, Choi, K, Kambham, N, Jensen, K, Dutt, S, Dionis-Petersen, K Y, Liu, L X, Felix, K, Mayfield, C, Dekel, B, Bokenkamp, A, Fryssira, H, Guillen-Navarro, E, Lama, G, Brugnara, M, Lucke, T, Olney, A H, Hunley, T E, Polat, A I, Yis, U, Bogdanovic, R, Mitrovic, K, Berry, S, Najera, L, Najafian, B, Gentile, M, Semerci, C N, Tsimaratos, M, Lewis, D B & Boerkoel, C F 2015, ' Lack of IL7R alpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD) ', Clinical Immunology, vol. 161, no. 2, pp. 355-365 . https://doi.org/10.1016/j.clim.2015.10.005

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMAR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50c6086f08104dec7b390962062b36b
https://doi.org/10.1016/j.clim.2015.10.005

Yeast Sen1 helicase protects the genome from transcription-associated instability

Autor: Wu Wei, Belén Gómez-González, Andrés Aguilera, Lars M. Steinmetz, Nick J. Proudfoot, Hannah E. Mischo, Ana G. Rondón, Pawel Grzechnik

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
idUS. Depósito de Investigación de la Universidad de Sevilla
Mischo, H E, Gómez-González, B, Grzechnik, P, Rondón, A G, Wei, W, Steinmetz, L, Aguilera, A & Proudfoot, N J 2011, ' Yeast Sen1 helicase protects the genome from transcription-associated instability ', Molecular Cell, vol. 41, no. 1, pp. 21-32 . https://doi.org/10.1016/j.molcel.2010.12.007
Molecular Cell
Mischo, H E, Gómez-González, B, Grzechnik, P, Rondón, A G, Wei, W, Steinmetz, L, Aguilera, A & Proudfoot, N J 2011, ' Yeast Sen1 helicase protects the genome from transcription-associated instability ', MOLECULAR CELL, vol. 41, no. 1, pp. 21-32 . https://doi.org/10.1016/j.molcel.2010.12.007

Under a Creative Commons license: Open Access funded by Wellcome Trust.-- et al.
Sen1 of S. cerevisiae is a known component of the NRD complex implicated in transcription termination of nonpolyadenylated as well as some polyadenylated RNA polyme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d338c620cd36bcc2bb998ed1bc5201c
https://ora.ox.ac.uk/objects/uuid:c053dc0a-f3cb-44c8-9d21-90e0403609d4