ArticleEuropean journal of human genetics : EJHG2019
TBL1Y: a new gene involved in syndromic hearing loss.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Age-related DNA methylation on Y chromosome and their associations with total mortality among Chinese males.Aging cell · 2022Pooled it
- DNA Methylation in macrophages infected withEmerging microbes & infections · 2025Article
- Y-chromosome alteration and its impact on cancer progression and metastasis.Cellular & molecular biology letters · 2025Review
- Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
- Comparing the roles of sex chromosome-encoded protein homologs in gene regulation.Genes & development · 2024Review
- A human stomach cell type transcriptome atlas.BMC biology · 2024Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Research square · 2023Article
- Mendelian inheritance revisited: dominance and recessiveness in medical genetics.Nature reviews. Genetics · 2023Review
- Genetic and Epigenetic Sexual Dimorphism of Brain Cells during Aging.Brain sciences · 2023Review
- An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.Human molecular genetics · 2022Article
- Identification of a New Mutation inBrain sciences · 2021Article
- Molecular characterization of the Yp11.2 region deletion in the Chinese Han population.International journal of legal medicine · 2021Article
- Diagnosis and Management of Central Congenital Hypothyroidism.Frontiers in endocrinology · 2021Review
- Quantitative analysis of Y-Chromosome gene expression across 36 human tissues.Genome research · 2020Article
- Growth factor and receptor malfunctions associated with human genetic deafness.Clinical genetics · 2020Review
- A strategic research alliance: Turner syndrome and sex differences.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
- Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review.BioMed research international · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.
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.