Zobrazeno 1 - 10
of 115
pro vyhledávání: '"DOWN SYNDROME CRITICAL REGION"'
Autor:
Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M. Grochowski, Ming Yin Lun, Alex Hastie, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Maria Pettersson, Claudia M.B. Carvalho, Jesper Eisfeldt, Anna Lindstrand
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101863- (2024)
Purpose: Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome). In addition, cases with rare structural v
Externí odkaz:
https://doaj.org/article/70b601806d7c45679087a28418058b52
Autor:
Aoife Murray, Gillian Gough, Ana Cindrić, Frano Vučković, David Koschut, Vincenzo Borelli, Dražen J. Petrović, Ana Bekavac, Ante Plećaš, Valentina Hribljan, Reinhard Brunmeir, Julija Jurić, Maja Pučić-Baković, Anita Slana, Helena Deriš, Azra Frkatović, Jűrgen Groet, Niamh L. O’Brien, Hong Yu Chen, Yee Jie Yeap, Frederic Delom, Steven Havlicek, Luke Gammon, Sarah Hamburg, Carla Startin, Hana D’Souza, Dinko Mitrečić, Mijana Kero, Ljubica Odak, Božo Krušlin, Željka Krsnik, Ivica Kostović, Jia Nee Foo, Yuin-Han Loh, Norris Ray Dunn, Susana de la Luna, Tim Spector, Ingeborg Barišić, Michael S.C. Thomas, Andre Strydom, Claudio Franceschi, Gordan Lauc, Jasminka Krištić, Ivan Alić, Dean Nižetić
Publikováno v:
EBioMedicine, Vol 94, Iss , Pp 104692- (2023)
Summary: Background: People with Down syndrome (DS) show clinical signs of accelerated ageing. Causative mechanisms remain unknown and hypotheses range from the (essentially untreatable) amplified-chromosomal-instability explanation, to potential act
Externí odkaz:
https://doaj.org/article/fccbd6f8ccf04865a74224623e30be79
Autor:
Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracausi
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)
Abstract Background Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or no
Externí odkaz:
https://doaj.org/article/61a934a38f564fcf9c7c6365b4e867c6
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of
Externí odkaz:
https://doaj.org/article/39a5c86647b844beb314c052152ec84d
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-5 (2018)
Abstract Background Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletion
Externí odkaz:
https://doaj.org/article/d535d188fe484cd28b4eb8ac3816d931
Autor:
Alexander M. Kleschevnikov, Jessica Yu, Jeesun Kim, Larisa V. Lysenko, Zheng Zeng, Y. Eugene Yu, William C. Mobley
Publikováno v:
Neurobiology of Disease, Vol 103, Iss , Pp 1-10 (2017)
Down syndrome (DS), trisomy 21, is caused by increased dose of genes present on human chromosome 21 (HSA21). The gene-dose hypothesis argues that a change in the dose of individual genes or regulatory sequences on HSA21 is necessary for creating DS-r
Externí odkaz:
https://doaj.org/article/135245ad177b4389ba819272f358c4b3
Akademický článek
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Autor:
Maria Chiara Pelleri, Elena Cicchini, Michael B. Petersen, Lisbeth Tranebjærg, Teresa Mattina, Pamela Magini, Francesca Antonaros, Maria Caracausi, Lorenza Vitale, Chiara Locatelli, Marco Seri, Pierluigi Strippoli, Allison Piovesan, Guido Cocchi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Down syndrome (DS) is characterized by the presence of an extra full or partial human chromosome 21 (Hsa21). An invaluable model to define genotype‐phenotype correlations in DS is the study of the extremely rare cases of partial
Externí odkaz:
https://doaj.org/article/4fa12c8fd31847a3a8ed7dee6cabdab8
Autor:
Pelleri, Maria Chiara, Locatelli, Chiara, Mattina, Teresa, Bonaglia, Maria Clara, Piazza, Francesca, Magini, Pamela, Antonaros, Francesca, Ramacieri, Giuseppe, Vione, Beatrice, Vitale, Lorenza, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido, Piovesan, Allison, Caracausi, Maria
Publikováno v:
BMC medical genomics. 15(1)
Background Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or not to DS:
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.