Genetic mutation analysis of the <ce:italic>COQ2</ce:italic> gene in Italian patients with multiple system atrophy
COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while ot...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Procopio, Radha [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2019 |
|---|
| Übergeordnetes Werk: |
Enthalten in: 26957 A study of dermoscopic features in relation to vitiligo activity - Lee, Jae-Ho ELSEVIER, 2021, an international journal on genes, genomes and evolution, Amsterdam |
|---|---|
| Übergeordnetes Werk: |
volume:716 ; year:2019 ; day:20 ; month:10 ; pages:0 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.gene.2019.144037 |
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| 520 | |a COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while other analysis failed to replicate these results in Caucasian population. We performed genetics screening of COQ2 in 100 MSA Italian patients. We did not find any pathogenic mutations; our results suggest that COQ2 is not a genetic risk factor for MSA in Italian population. | ||
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10.1016/j.gene.2019.144037 doi GBV00000000000726.pica (DE-627)ELV047700092 (ELSEVIER)S0378-1119(19)30696-1 DE-627 ger DE-627 rakwb eng 610 VZ 44.93 bkl Procopio, Radha verfasserin aut Genetic mutation analysis of the <ce:italic>COQ2</ce:italic> gene in Italian patients with multiple system atrophy 2019 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while other analysis failed to replicate these results in Caucasian population. We performed genetics screening of COQ2 in 100 MSA Italian patients. We did not find any pathogenic mutations; our results suggest that COQ2 is not a genetic risk factor for MSA in Italian population. Gagliardi, Monica oth Brighina, Laura oth Nicoletti, Giuseppe oth Morelli, Maurizio oth Ferrarese, Carlo oth Annesi, Grazia oth Quattrone, Aldo oth Enthalten in Elsevier Lee, Jae-Ho ELSEVIER 26957 A study of dermoscopic features in relation to vitiligo activity 2021 an international journal on genes, genomes and evolution Amsterdam (DE-627)ELV006417590 volume:716 year:2019 day:20 month:10 pages:0 https://doi.org/10.1016/j.gene.2019.144037 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.93 Dermatologie VZ AR 716 2019 20 1020 0 |
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Genetic mutation analysis of the <ce:italic>COQ2</ce:italic> gene in Italian patients with multiple system atrophy |
| abstract |
COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while other analysis failed to replicate these results in Caucasian population. We performed genetics screening of COQ2 in 100 MSA Italian patients. We did not find any pathogenic mutations; our results suggest that COQ2 is not a genetic risk factor for MSA in Italian population. |
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COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while other analysis failed to replicate these results in Caucasian population. We performed genetics screening of COQ2 in 100 MSA Italian patients. We did not find any pathogenic mutations; our results suggest that COQ2 is not a genetic risk factor for MSA in Italian population. |
| abstract_unstemmed |
COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while other analysis failed to replicate these results in Caucasian population. We performed genetics screening of COQ2 in 100 MSA Italian patients. We did not find any pathogenic mutations; our results suggest that COQ2 is not a genetic risk factor for MSA in Italian population. |
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Genetic mutation analysis of the <ce:italic>COQ2</ce:italic> gene in Italian patients with multiple system atrophy |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV047700092</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230624140823.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">191022s2019 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.gene.2019.144037</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBV00000000000726.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV047700092</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0378-1119(19)30696-1</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.93</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Procopio, Radha</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Genetic mutation analysis of the <ce:italic>COQ2</ce:italic> gene in Italian patients with multiple system atrophy</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2019</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while other analysis failed to replicate these results in Caucasian population. We performed genetics screening of COQ2 in 100 MSA Italian patients. 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