ArticleAmerican journal of human genetics2012
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
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. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.Human molecular genetics · 2018Pooled it
- METTL1-mediated m7G modification regulates hair follicle cycle via the HOXC13/FOXN1/DSG4 axis.PLoS genetics · 2026Article
- Hoxc13 and homologs of mammalian hair keratins are required for the cornification of nuptial pads in Xenopus frogs.Communications biology · 2026Article
- Article
- High-throughput DNA sequence analysis elucidates novel insight into the genetic basis of adaptation in local sheep.Tropical animal health and production · 2024Article
- Evolutionary origin of Hoxc13-dependent skin appendages in amphibians.Nature communications · 2024Article
- Molecular Genetic Characteristics of theInternational journal of molecular sciences · 2024Article
- HomozygousHuman mutation · 2024Article
- Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.Genes · 2022Article
- Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness.eLife · 2022Article
- Article
- Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13.Experimental dermatology · 2022Article
- Mammalian-specific ectodermal enhancers control the expression ofProceedings of the National Academy of Sciences of the United States of America · 2020Article
- Article
- The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus).BMC genomics · 2018Article
- Transcription and microRNA Profiling of Cultured Human Tympanic Membrane Epidermal Keratinocytes.Journal of the Association for Research in Otolaryngology : JARO · 2018Article
- A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.BMC medical genetics · 2017Article
- HOX genes: Major actors in resistance to selective endocrine response modifiers.Biochimica et biophysica acta · 2016Review
- Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.Journal of medical genetics · 2016Article
- YAP regulates the expression of Hoxa1 and Hoxc13 in mouse and human oral and skin epithelial tissues.Molecular and cellular biology · 2015Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.
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