ArticleDevelopmental biology2014
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Article in Developmental biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 41 citations in OpenAlex.
- Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling.Cell proliferation · 2026Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Genome-wide association identifies genomic regions influencing fillet color in Northwest Atlantic salmon (Frontiers in genetics · 2024Article
- Overexpression ofAmerican journal of undergraduate research · 2023Article
- Article
- Altered vitamin B12 metabolism in the central nervous system is associated with the modification of ribosomal gene expression: new insights from comparative RNA dataset analysis.Functional & integrative genomics · 2023Article
- Abnormal chondrocyte intercalation in a zebrafish model ofbioRxiv : the preprint server for biology · 2023Article
- Upregulation of HCFC1 expression promoted hepatocellular carcinoma progression through inhibiting cell cycle arrest and correlated with immune infiltration.Journal of Cancer · 2023Article
- Lpt, trr, and Hcf regulate histone mono- and dimethylation that are essential for Drosophila heart development.Developmental biology · 2022Article
- Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.iScience · 2022Review
- Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.Nature communications · 2022Article
- Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.Journal of human genetics · 2021Article
- Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural crest cell dysfunction in zebrafish.BMC developmental biology · 2021Article
- Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism.Genesis (New York, N.Y. : 2000) · 2020Article
- The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.Human molecular genetics · 2020Article
- Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain.BMC neuroscience · 2020Article
- The role of HCFC1 in syndromic and non-syndromic intellectual disability.Medical research archives · 2020Article
- Development of an immune-related prognostic index associated with hepatocellular carcinoma.Aging · 2020Article
- Multi-pathway Protective Effects of MicroRNAs on Human Chondrocytes in an In Vitro Model of Osteoarthritis.Molecular therapy. Nucleic acids · 2019Article
- Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.Human molecular genetics · 2017Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in HCFC1 (MIM300019), have been recently associated with cblX (MIM309541), an X-linked, recessive disorder characterized by multiple congenital anomalies including craniofacial abnormalities. HCFC1 is a transcriptional co-regulator that modulates the expression of numerous downstream target genes including MMACHC, but it is not clear how these HCFC1 targets play a role in the clinical manifestations of cblX. To begin to elucidate the mechanism by which HCFC1 modulates disease phenotypes, we have carried out loss of function analyses in the developing zebrafish. Of the two HCFC1 orthologs in zebrafish, hcfc1a and hcfc1b, the loss of hcfc1b specifically results in defects in craniofacial development. Subsequent analysis revealed that hcfc1b regulates cranial neural crest cell differentiation and proliferation within the posterior pharyngeal arches. Further, the hcfc1b-mediated craniofacial abnormalities were rescued by expression of human MMACHC, a downstream target of HCFC1 that is aberrantly expressed in cblX. Furthermore, we tested distinct human HCFC1 mutations for their role in craniofacial development and demonstrated variable effects on MMACHC expression in humans and craniofacial development in zebrafish. Notably, several individuals with mutations in either HCFC1 or MMACHC have been reported to have mild to moderate facial dysmorphia. Thus, our data demonstrates that HCFC1 plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression.
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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.