Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______272::d2f0f862abe7e6b433bb51fa4c031037
https://hdl.handle.net/2072/430860

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Autor: Grainne S. Gorman, William P. Allen, Carol Anne Martin, Rebekah Jobling, Karen E. Heath, Amber Begtrup, Bernd Wollnik, N.S. Ali, Janine Altmüller, Hywel Williams, David A. Parry, Kei Murayama, J. Cruz-Rojo, Nursel Elcioglu, Anna H. Bizard, Yasushi Okazaki, Miriam Aza-Carmona, Fowzan S. Alkuraya, Massimo Bogliolo, Ian D. Hickson, Kata Sarlós, Clare V. Logan, Andrea Leitch, Gökhan Yigit, I Kesterton, Akira Ohtake, Anya Revah-Politi, Masaru Shimura, Roshan Singh Thakur, Jordi Surrallés, A.J. Malallah, Masakazu Kohda, Alejandro Iglesias, Yoshihito Kishita, Roser Pujol, Lesley Turner, Al-Owain, L. Zahavich, Robert W. Taylor, Peter Nürnberg, H.A.M. Dhahrabi, Megan T. Cho, Jimena Barraza-García, Andrew P. Jackson, María José Ramírez, Carolyn Wilson, B.A.Y. Barakat, P. Stevens, P. Le Quesne Stabej, Louise Cleal, Mehul T. Dattani

Publikováno v: American Journal of Human Genetics
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the prese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0575f86bcaf71e46c26e873042bda13
https://pubmed.ncbi.nlm.nih.gov/30057030

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Publikováno v: GOSgene 2018, ' Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ', American Journal of Human Genetics, vol. 103, no. 2, pp. 221-231 . https://doi.org/10.1016/j.ajhg.2018.07.001

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the prese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2751::38e0c327d524eb16adefd250fe8b8f7f
https://curis.ku.dk/portal/da/publications/mutations-in-top3a-cause-a-bloom-syndromelike-disorder(a0dd5707-f4d7-4019-b632-7e58154f9f10).html

Crossover recombination mediated by HIM-18/SLX4-associated nucleases

Autor: Monica P. Colaiácovo, Takamune T. Saito

Publikováno v: Worm

Meiosis is a specialized cell division program that results in the formation of haploid gametes (i.e., sperm and eggs) from diploid parental cells, and is essential for all sexually reproducing organisms. Crossover formation, the reciprocal exchange

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8de867dddd7cc89ad1fbf182bf6f617
https://doi.org/10.4161/worm.28233

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Autor: Martin CA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Sarlós K; Center for Chromosome Stability and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark., Logan CV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Thakur RS; Center for Chromosome Stability and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark., Parry DA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Bizard AH; Center for Chromosome Stability and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark., Leitch A; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Cleal L; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Ali NS; Dubai Hospital, Al Khaleej Street, Al Baraha, PO Box 7272, Dubai., Al-Owain MA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Allen W; Fullerton Genetics Center, Asheville, NC 28803, USA., Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Aza-Carmona M; Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPaz, Madrid 28046, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain., Barakat BAY; Dubai Hospital, Al Khaleej Street, Al Baraha, PO Box 7272, Dubai., Barraza-García J; Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPaz, Madrid 28046, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain., Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Bogliolo M; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain., Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Cruz-Rojo J; Department of Pediatric Endocrinology & Dysmorphology, Hospital 12 Octubre, Madrid 28041, Spain., Dhahrabi HAM; Dubai Hospital, Al Khaleej Street, Al Baraha, PO Box 7272, Dubai., Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul 34722, Turkey., Gorman GS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, School of Medical Education, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Jobling R; The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Kesterton I; Cytogenetics Department, Viapath Analytics, Guy's Hospital, London SE1 9RT, UK., Kishita Y; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Kohda M; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Le Quesne Stabej P; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK., Malallah AJ; Dubai Hospital, Al Khaleej Street, Al Baraha, PO Box 7272, Dubai., Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Saitama 350-0495, Japan., Okazaki Y; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Pujol R; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain., Ramirez MJ; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain., Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA., Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, Japan., Stevens P; Cytogenetics Department, Viapath Analytics, Guy's Hospital, London SE1 9RT, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, School of Medical Education, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Turner L; Memorial University of Newfoundland, St. John's, NL A1C 5S7, Canada., Williams H; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK., Wilson C; Fullerton Genetics Center, Asheville, NC 28803, USA., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany., Zahavich L; The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Surralles J; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain; Department of Genetics and Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona 08041, Spain., Iglesias A; Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center, New York, NY 10032, USA., Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, Japan., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany., Dattani M; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK., Heath KE; Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPaz, Madrid 28046, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain., Hickson ID; Center for Chromosome Stability and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark. Electronic address: iandh@sund.ku.dk., Jackson AP; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address: andrew.jackson@igmm.ed.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Aug 02; Vol. 103 (2), pp. 221-231. Date of Electronic Publication: 2018 Jul 26.