ArticleEuropean journal of human genetics : EJHG2011
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- BNC2 in Development and Disease: Regulatory Mechanisms and Translational Implications.Molecules (Basel, Switzerland) · 2026Review
- BNC2 as a putative transcriptional coordinator linking energy state to neural circuits.iScience · 2026Review
- A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.Human genomics · 2026Article
- Basonuclin-2 regulates extracellular matrix production and degradation.Life science alliance · 2023Article
- Roles for urothelium in normal and aberrant urinary tract development.Nature reviews. Urology · 2020Review
- Etiology of Hypospadias: A Comparative Review of Genetic Factors and Developmental Processes Between Human and Animal Models.Research and reports in urology · 2020Review
- Expanding the knowledge on development of CAKUT: molecular genetics and beyond.Annals of translational medicine · 2019Article
- Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction.Annals of translational medicine · 2019Article
- Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.American journal of human genetics · 2019Article
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- Broad Phenotypes of Disorders/Differences of Sex Development inFrontiers in genetics · 2019Article
- Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.Molecular genetics & genomic medicine · 2018Article
- Human basonuclin 2 up-regulates a cascade set of interferon-stimulated genes with anti-cancerous properties in a lung cancer model.Cancer cell international · 2017Article
- Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.European journal of human genetics : EJHG · 2015Article
- Exome sequencing for the diagnosis of 46,XY disorders of sex development.The Journal of clinical endocrinology and metabolism · 2015Article
- The Genetic and Environmental Factors Underlying Hypospadias.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2015Review
Corrections and comments
- Erratum issuedGarg, Vidu [added]
Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
Abstract
We studied a man with distal hypospadias, partial anomalous pulmonary venous return, mild limb-length inequality and a balanced translocation involving chromosomes 9 and 13. To gain insight into the etiology of his birth defects, we mapped the translocation breakpoints by high-resolution comparative genomic hybridization (CGH), using chromosome 9- and 13-specific tiling arrays to analyze genetic material from a spontaneously aborted fetus with unbalanced segregation of the translocation. The chromosome 13 breakpoint was ∼400 kb away from the nearest gene, but the chromosome 9 breakpoint fell within an intron of Basonuclin 2 (BNC2), a gene that encodes an evolutionarily conserved nuclear zinc-finger protein. The BNC2/Bnc2 gene is abundantly expressed in developing mouse and human periurethral tissues. In all, 6 of 48 unrelated subjects with distal hypospadias had nine novel nonsynonymous substitutions in BNC2, five of which were computationally predicted to be deleterious. In comparison, two of 23 controls with normal penile urethra morphology, each had a novel nonsynonymous substitution in BNC2, one of which was predicted to be deleterious. Bnc2(-/-) mice of both sexes displayed a high frequency of distal urethral defects; heterozygotes showed similar defects with reduced penetrance. The association of BNC2 disruption with distal urethral defects and the gene's expression pattern indicate that it functions in urethral development.
Indexed as
Identifiers
What OpenQuestion holds
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.