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Typus
Verschleierung
Bearbeiter
Hindemith
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 85, Zeilen: 21-28
Quelle: Shchelochkov et al 2009
Seite(n): 1101, 1102, Zeilen: 1101: r.col: 12 ff.; 1102: l.col: 28 ff.
Duplications or deletions of regions on chromosome 17 have been implicated in a number of genomic disorders in humans (Lupski and Stankiewicz, 2005). Chromosome 17 has the second highest gene content amongst all chromosomes. It harbors several dosage-sensitive genes, including PMP22, PAFAH1B1,YWHAE, RAI1, and NF1, which have been implicated in a number of genomic disorders (Lupski, 2009). Genomic studies have elucidated the mechanisms underlying genomic rearrangements in chromosome 17 and their contribution to the clinical phenotypes.

44. Lupski JR & Stankiewicz P. 2005.Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49.

46. Lupski JR. 2009. Genomic disorders ten years on. Genome Med 1:42.

Duplications or deletions of regions on chromosome 17 have been implicated in a number of genomic disorders in humans [Lupski and Stankiewicz, 2005]. Genomic studies have provided us with insight into the complex genomic structure of chromosome 17. This elucidated the framework for our understanding of the mechanisms underlying genomic rearrangements in chromosome 17 and their contribution to the clinical phenotypes.

[page 1102]

Chromosome 17 has the second highest gene content amongst all chromosomes [Zody et al., 2006]. It harbors several dosage-sensitive genes, including PMP22, PAFAH1B1,YWHAE, RAI1, and NF1, which have been implicated in a number of genomic disorders [Lupski, 1998, 2009].


Lupski JR, Stankiewicz P. 2005.Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49.

Lupski JR. 2009. Genomic disorders ten years on. Genome Med 1:42.

Lupski JR. 1998. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417.

Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, BiW,Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O’Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C. 2006. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 440:1045–1049.

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Sichter
(Hindemith), SleepyHollow02

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