ArticleNature2010
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
Article in Nature, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers.
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Who cites it
112 citing papers in PubMed, 255 citations in OpenAlex.
- Whole Exome Sequencing IdentifiesInternational journal of molecular sciences · 2021Trial
- Gene-expression and in vitro function of mesenchymal stromal cells are affected in juvenile myelomonocytic leukemia.Haematologica · 2015Trial
- New insights into bone pathology through a transcriptomic profiling of an osteoblast model of Gaucher disease.Molecular genetics and metabolism reports · 2026Article
- MICAL2 as a key effector of β-catenin signaling driving melanoma progression and therapeutic resistance.Cell death and differentiation · 2026Article
- From brain networks to peripheral signatures: candidate biomarkers for major depressive disorder.Translational psychiatry · 2026Article
- Wnt Signaling Across Adult Skin Mini-Organs: Interfollicular Epidermis, Hair Follicle, and Nail-Implications for Disease and Regeneration.International journal of molecular sciences · 2026Review
- Preparation and Evaluation of a Multi-Epitope Peptide for Assessing Immunotherapy of Colorectal Cancer in Vivo.The protein journal · 2026Article
- Stage- and cluster-specific regulation of chondrogenic gene programs by Sox9 in mouse embryonic limb buds.iScience · 2026Article
- Spatial and Single-Cell Transcriptomics Reveal Keratinocytes as Key Players in Vulvar Lichen Sclerosus Pathogenesis.The Journal of investigative dermatology · 2026Article
- Precision therapeutics in non-scarring alopecia: a systemic genomic and pathway-based framework for targeted interventions.ADMET & DMPK · 2026Review
- Multi-omics analysis identifies stemness-driven molecular subtypes, prognostic signature, epigenetic target APCDD1, and drug candidate Leflunomide in Wilms tumor.Frontiers in oncology · 2026Article
- Constitutive epidermal expression of osteopontin in osteopontin-null mice restores ultraviolet B-induced cutaneous squamous cell carcinomas to wild-type levels.Carcinogenesis · 2025Article
- The role of the striatin family proteins in hippo signaling and cellular regulation.Cell & bioscience · 2025Article
- Deciphering the cellular and molecular landscapes of Wnt/β-catenin signaling in mouse embryonic kidney development.Computational and structural biotechnology journal · 2024Article
- Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease.bioRxiv : the preprint server for biology · 2024Article
- Divergent WNT signaling and drug sensitivity profiles within hepatoblastoma tumors and organoids.Nature communications · 2024Article
- Cancer-associated fibroblast subtypes modulate the tumor-immune microenvironment and are associated with skin cancer malignancy.Nature communications · 2024Article
- Review
- Wnt/β-catenin signaling components and mechanisms in bone formation, homeostasis, and disease.Bone research · 2024Review
- Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia.Nature communications · 2024Article
52 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterized by hair follicle miniaturization. Using genetic linkage analysis, we mapped a new locus for the disease to chromosome 18p11.22, and identified a mutation (Leu9Arg) in the adenomatosis polyposis down-regulated 1 (APCDD1) gene in three families. We show that APCDD1 is a membrane-bound glycoprotein that is abundantly expressed in human hair follicles, and can interact in vitro with WNT3A and LRP5-two essential components of Wnt signalling. Functional studies show that APCDD1 inhibits Wnt signalling in a cell-autonomous manner and functions upstream of beta-catenin. Moreover, APCDD1 represses activation of Wnt reporters and target genes, and inhibits the biological effects of Wnt signalling during both the generation of neurons from progenitors in the developing chick nervous system, and axis specification in Xenopus laevis embryos. The mutation Leu9Arg is located in the signal peptide of APCDD1, and perturbs its translational processing from the endoplasmic reticulum to the plasma membrane. APCDD1(L9R) probably functions in a dominant-negative manner to inhibit the stability and membrane localization of the wild-type protein. These findings describe a novel inhibitor of the Wnt signalling pathway with an essential role in human hair growth. As APCDD1 is expressed in a broad repertoire of cell types, our findings indicate that APCDD1 may regulate a diversity of biological processes controlled by Wnt signalling.
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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.