ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2013
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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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
30 citing papers in PubMed, 57 citations in OpenAlex.
- Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.Frontiers in medicine · 2026Review
- Expression analysis of genes including Zfhx4 in mice and zebrafish reveals a temporospatial conserved molecular basis underlying craniofacial development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.Molecular genetics & genomic medicine · 2024Review
- Endothelin signaling in development.Development (Cambridge, England) · 2023Review
- Cyclophilin A as a Pro-Inflammatory Factor Exhibits Embryotoxic and Teratogenic Effects during Fetal Organogenesis.International journal of molecular sciences · 2023Article
- Article
- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.The Journal of clinical investigation · 2023Article
- New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involvingJournal of medical genetics · 2022Article
- Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.Disease models & mechanisms · 2022Article
- Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.BMC pregnancy and childbirth · 2021Article
- A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.Journal of human genetics · 2021Article
- Mir24-2-5p suppresses the osteogenic differentiation with Gnai3 inhibition presenting a direct target via inactivating JNK-p38 MAPK signaling axis.International journal of biological sciences · 2021Article
- The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation.Frontiers in endocrinology · 2021Article
- Recapitulation of Neural Crest Specification and EMT via Induction from Neural Plate Border-like Cells.Stem cell reports · 2020Article
- Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.American journal of medical genetics. Part A · 2020Article
- Article
- Neural crest contributions to the ear: Implications for congenital hearing disorders.Hearing research · 2019Review
- Zebrafish Models of Human Skeletal Disorders: Embryo and Adult Swimming Together.BioMed research international · 2019Review
- Modeling craniofacial development reveals spatiotemporal constraints on robust patterning of the mandibular arch.PLoS computational biology · 2018Article
- Systems biology of facial development: contributions of ectoderm and mesenchyme.Developmental biology · 2017Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
Among human birth defect syndromes, malformations affecting the face are perhaps the most striking due to cultural and psychological expectations of facial shape. One such syndrome is auriculocondylar syndrome (ACS), in which patients present with defects in ear and mandible development. Affected structures arise from cranial neural crest cells, a population of cells in the embryo that reside in the pharyngeal arches and give rise to most of the bone, cartilage and connective tissue of the face. Recent studies have found that most cases of ACS arise from defects in signaling molecules associated with the endothelin signaling pathway. Disruption of this signaling pathway in both mouse and zebrafish results in loss of identity of neural crest cells of the mandibular portion of the first pharyngeal arch and the subsequent repatterning of these cells, leading to homeosis of lower jaw structures into more maxillary-like structures. These findings illustrate the importance of endothelin signaling in normal human craniofacial development and illustrate how clinical and basic science approaches can coalesce to improve our understanding of the genetic basis of human birth defect syndromes. Further, understanding the genetic basis for ACS that lies outside of known endothelin signaling components may help elucidate unknown aspects critical to the establishment of neural crest cell patterning during facial morphogenesis.
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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.