ArticleFertility and sterility2015
Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia.
Article in Fertility and sterility, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 34 citations in OpenAlex.
- Is Male Infertility an Early Warning of More Serious Diseases?Endocrinology · 2026Review
- Chromosome defects and male factor infertility.Fertility and sterility · 2025Review
- The role of E2F1 in promoting EIF4EBP1 transcription in cryptorchid mice: association with autophagy in germ cells.Frontiers in genetics · 2025Article
- Regulation of androgen receptor stability by the βFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Transcriptional Differences in Identical Twins With Different Reproductive Capacities: A Case Report.Cureus · 2023Article
- Microdeletions and microduplications linked to severe congenital disorders in infertile men.Scientific reports · 2023Article
- Contribution ofFrontiers in cell and developmental biology · 2022Article
- Retinoblastoma-E2F Transcription Factor Interplay Is Essential for Testicular Development and Male Fertility.Frontiers in endocrinology · 2022Review
- E2F1 regulates testicular descent and controls spermatogenesis by influencing WNT4 signaling.Development (Cambridge, England) · 2021Article
- Current updates and future perspectives in the evaluation of azoospermia: A systematic review.Arab journal of urology · 2021Article
- Male infertility and genitourinary birth defects: there is more than meets the eye.Fertility and sterility · 2020Review
- Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis.Oncotarget · 2016Article
- Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.BMC urology · 2016Article
- Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.