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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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[1.] Mmu/Fragment 089 16 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:29:01 Singulus
Fragment, Gesichtet, Kalman and Vitale 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

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Verschleierung
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Hindemith
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Untersuchte Arbeit:
Seite: 89, Zeilen: 16-18
Quelle: Kalman and Vitale 2009
Seite(n): 251, Zeilen: r.col: 25 ff.
The highlighted examples demonstrate how gene dosage effects may influence the development of common disorders often characterized by heterogeneous genetic aetiology. The highlighted examples demonstrate how gene dosage effects may influence cell function and development of common disorders often characterized by heterogeneous genetic etiology.
Anmerkungen

The source is not mentioned.

Sichter
(Hindemith), SleepyHollow02

[2.] Mmu/Fragment 089 19 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:21:33 Singulus
BauernOpfer, Fragment, Gesichtet, Lupski and Stankiewicz 2005, Mmu, SMWFragment, Schutzlevel sysop

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BauernOpfer
Bearbeiter
Graf Isolan
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Untersuchte Arbeit:
Seite: 89, Zeilen: 19-25
Quelle: Lupski and Stankiewicz 2005
Seite(n): 0631, Zeilen: left col. 16-26
Other molecular mechanisms by which rearrangements of the genome may convey or alter a disease phenotype result from how the rearrangement on one chromosome affects or is affected by the allele on the other chromosome at that locus. These include the unmasking of either recessive mutations or functional polymorphisms of the remaining allele when a deletion occurs, and potential transvection effects via deletion of regulatory elements required for communication between alleles (Lupski and Stankiewicz 2005).

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

Other molecular mechanisms by which rearrangements of the genome may convey or alter a disease phenotype result from how the rearrangement on one chromosome affects or is affected by the allele on the other chromosome at that locus (Figure 3E and 3F). These include the unmasking of either recessive mutations (reviewed in [63]) or functional polymorphisms [64] of the remaining allele when a deletion occurs, and potential transvection (communication between alleles on homologous chromosomes) [16,17] effects via deletion of regulatory elements required for communication between alleles.

16. Yan J, Keener VW, Bi W, Walz K, Bradley A, et al. (2004) Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet 13: 2613–2624.

17. Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, et al. (2005) Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet 14: 983–995.

63. Shaffer LG, Ledbetter DH, Lupski JR (2001) Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, et al., editors. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill. pp. 6077–6096.

64. Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med 7: 479–483.

Anmerkungen

Though taken verbatim nothing has been marked as a citation. All original references have been deleted. The source is named.

Sichter
(Graf Isolan), SleepyHollow02

[3.] Mmu/Fragment 089 25 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:19:47 Singulus
Fragment, Gesichtet, Girirajan and Eichler 2010, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

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KomplettPlagiat
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Graf Isolan
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Untersuchte Arbeit:
Seite: 89, Zeilen: 25-31
Quelle: Girirajan and Eichler 2010
Seite(n): R182, Zeilen: left col. 24-36
Recessive genes reside within the CNV regions, and the chances of finding a recessive mutation along with a microdeletion are rare (frequency of spontaneous mutation x frequency of the deletion event), but plausible. Profound sensorineural hearing loss has been reported in patients with Smith-Magenis syndrome whose deletions unmask the recessive mutation in the myosin (MYO15A) gene located within the 17p11.2 region (Liburd 2001). Functional polymorphisms within COMT and FXII, unmasked by hemizygous [deletions, have also been reported to result in cognitive decline and psychosis in patients with 22q11.2 deletion and reduced activity of coagulation factor 12 in Sotos syndrome respectively (Gothelf 2005, Kurotaki 2005).]

25. Gothelf, D. et al. (2005) COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci., 8, 1500–1502.

38. Kurotaki N., et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet. Med., 7, 479–483.

42. Liburd N., et al. (2001) Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith–Magenis syndrome. Hum. Genet., 109, 535–541.

Furthermore, recessive genes reside within the CNV regions, and the chances of finding a recessive mutation along with a microdeletion are rare (frequency of spontaneous mutation x frequency of the deletion event), but plausible (Fig. 3). Profound sensorineural hearing loss has been reported in patients with Smith-Magenis syndrome whose deletions unmask the recessive mutations in the myosin (MYO15A) gene located within the 17p11.2 region (87). Functional polymorphisms within COMT and FXII, unmasked by hemizygous deletions, have also been reported to result in cognitive decline and psychosis in patients with del22q11.2 and reduced activity of coagulation factor 12 in Sotos syndrome, respectively (88,89).

87. Liburd, N., Ghosh, M., Riazuddin, S., Naz, S., Khan, S., Ahmed, Z., Riazuddin, S., Liang, Y., Menon, P.S., Smith, T. et al. (2001) Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith–Magenis syndrome. Hum. Genet., 109, 535–541.

88. Gothelf, D., Eliez, S., Thompson, T., Hinard, C., Penniman, L., Feinstein, C., Kwon, H., Jin, S., Jo, B., Antonarakis, S.E. et al. (2005) COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci., 8, 1500–1502.

89. Kurotaki, N., Shen, J.J., Touyama, M., Kondoh, T., Visser, R., Ozaki, T., Nishimoto, J., Shiihara, T., Uetake, K., Makita, Y. et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet. Med., 7, 479–483.

Anmerkungen

Nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02


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