ArticleAmerican journal of human genetics2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02055248 (Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders), which is not on this map. Cited by 40 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.
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.
Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders
Who cites it
40 citing papers in PubMed, 87 citations in OpenAlex.
- Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.Frontiers in medicine · 2026Review
- Systematic phenotype and genotype characterization of Moebius syndrome.Genetics in medicine open · 2025Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Nature communications · 2024Article
- Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.International journal of environmental research and public health · 2024Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.medRxiv : the preprint server for health sciences · 2023Article
- Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.International journal of molecular sciences · 2023Article
- Abnormal outer hair cell efferent innervation in Hoxb1-dependent sensorineural hearing loss.PLoS genetics · 2023Article
- Moebius Syndrome: What We Know So Far.Cureus · 2023Review
- Genetics of strabismus.Frontiers in ophthalmology · 2023Article
- Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.Orphanet journal of rare diseases · 2022Article
- A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.BMC medical genomics · 2022Article
- Diversification and Functional Evolution of HOX Proteins.Frontiers in cell and developmental biology · 2022Review
- A framework for the evaluation of patients with congenital facial weakness.Orphanet journal of rare diseases · 2021Review
- Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.Muscle & nerve · 2021Article
- Genome-Wide Binding Analyses of HOXB1 Revealed a Novel DNA Binding Motif Associated with Gene Repression.Journal of developmental biology · 2021Article
- A six-amino-acid motif is a major determinant in functional evolution of HOX1 proteins.Genes & development · 2020Article
- Article
- Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis.Investigative ophthalmology & visual science · 2018Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 5 countries.
Funding
Abstract
Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior axis of mice and humans. We have identified a founder homozygous missense mutation in HOXB1 in two families from a conservative German American population. The resulting phenotype includes bilateral facial palsy, hearing loss, and strabismus and correlates extensively with the previously reported Hoxb1(-/-) mouse phenotype. The missense variant is predicted to result in the substitution of a cysteine for an arginine at amino acid residue 207 (Arg207Cys), which corresponds to the highly conserved Arg5 of the homeodomain. Arg5 interacts with thymine in the minor groove of DNA through hydrogen bonding and electrostatic attraction. Molecular modeling and an in vitro DNA-protein binding assay predict that the mutation would disrupt these interactions, destabilize the HOXB1:PBX1:DNA complex, and alter HOXB1 transcriptional activity.
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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.