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• W2103399888 abstract "ObjectiveTo identify gene dosage changes associated with nonobstructive azoospermia (NOA) using array comparative genomic hybridization (aCGH).DesignProspective study.SettingMedical school.Patient(s)One hundred ten men with NOA and 78 fertile controls.Intervention(s)None.Main Outcome Measure(s)The study has four distinct analytic components: aCGH, a molecular karyotype that detects copy number variations (CNVs); Taqman CNV assays to validate CNVs; mutation identification by Sanger sequencing; and histological analyses of testicular tissues.Result(s)A microduplication at 20q11.22 encompassing E2F transcription factor-1 (E2F1) was identified in one of eight men with NOA analyzed using aCGH. CNVs were confirmed and in an additional 102 men with NOA screened using Taqman CNV assays, for a total of 110 NOA men analyzed for CNVs in E2F1. Eight of 110 (7.3%) NOA men had microduplications or microdeletions of E2F1 that were absent in fertile controls.Conclusion(s)E2F1 microduplications or microdeletions are present in men with NOA (7.3%). Duplications or deletions of E2F1 occur very rarely in the general population (0.011%), but E2F1 gene dosage changes, previously reported only in cancers, are present in a subset of NOA men. These results recapitulate the infertility phenotype seen in mice lacking or overexpressing E2f1. To identify gene dosage changes associated with nonobstructive azoospermia (NOA) using array comparative genomic hybridization (aCGH). Prospective study. Medical school. One hundred ten men with NOA and 78 fertile controls. None. The study has four distinct analytic components: aCGH, a molecular karyotype that detects copy number variations (CNVs); Taqman CNV assays to validate CNVs; mutation identification by Sanger sequencing; and histological analyses of testicular tissues. A microduplication at 20q11.22 encompassing E2F transcription factor-1 (E2F1) was identified in one of eight men with NOA analyzed using aCGH. CNVs were confirmed and in an additional 102 men with NOA screened using Taqman CNV assays, for a total of 110 NOA men analyzed for CNVs in E2F1. Eight of 110 (7.3%) NOA men had microduplications or microdeletions of E2F1 that were absent in fertile controls. E2F1 microduplications or microdeletions are present in men with NOA (7.3%). Duplications or deletions of E2F1 occur very rarely in the general population (0.011%), but E2F1 gene dosage changes, previously reported only in cancers, are present in a subset of NOA men. These results recapitulate the infertility phenotype seen in mice lacking or overexpressing E2f1." @default.
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• W2103399888 date "2015-01-01" @default.
• W2103399888 modified "2023-09-23" @default.
• W2103399888 title "Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia" @default.
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• W2103399888 cites W1973011197 @default.
• W2103399888 cites W1978682491 @default.
• W2103399888 cites W1978715316 @default.
• W2103399888 cites W1980759602 @default.
• W2103399888 cites W1986317453 @default.
• W2103399888 cites W1989920746 @default.
• W2103399888 cites W1992400870 @default.
• W2103399888 cites W1993346200 @default.
• W2103399888 cites W2002395285 @default.
• W2103399888 cites W2004075871 @default.
• W2103399888 cites W2009405092 @default.
• W2103399888 cites W2012758140 @default.
• W2103399888 cites W2016160282 @default.
• W2103399888 cites W2019562165 @default.
• W2103399888 cites W2031203111 @default.
• W2103399888 cites W2036841261 @default.
• W2103399888 cites W2038163496 @default.
• W2103399888 cites W2039531029 @default.
• W2103399888 cites W2046301893 @default.
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• W2103399888 cites W2124586483 @default.
• W2103399888 cites W2134256373 @default.
• W2103399888 cites W2143238378 @default.
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• W2103399888 doi "https://doi.org/10.1016/j.fertnstert.2014.09.021" @default.
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