ArticleMolecular and cellular biology2007
Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway.
Article in Molecular and cellular biology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 66 citations in OpenAlex.
- The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022Pooled it
- Phenotypic spectrum ofPeerJ · 2022Pooled it
- The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.BMC medical genomics · 2026Article
- FGFR2 residence in primary cilia is necessary for epithelial cell signaling.The Journal of cell biology · 2025Article
- FGF signaling regulates salivary gland branching morphogenesis by modulating cell adhesion.Development (Cambridge, England) · 2023Article
- Role of FGF10/FGFR2b Signaling in Homeostasis and Regeneration of Adult Lacrimal Gland and Corneal Epithelium Proliferation.Investigative ophthalmology & visual science · 2023Article
- Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.Investigative ophthalmology & visual science · 2022Review
- Salivary gland function, development, and regeneration.Physiological reviews · 2022Review
- A mesenchymal to epithelial switch in Fgf10 expression specifies an evolutionary-conserved population of ionocytes in salivary glands.Cell reports · 2022Article
- Cell signaling regulation in salivary gland development.Cellular and molecular life sciences : CMLS · 2021Review
- Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.Molecular genetics & genomic medicine · 2020Review
- The paradox of cancer genes in non-malignant conditions: implications for precision medicine.Genome medicine · 2020Review
- Growth factor and receptor malfunctions associated with human genetic deafness.Clinical genetics · 2020Review
- A requirement for Fgfr2 in middle ear development.Genesis (New York, N.Y. : 2000) · 2019Article
- FGF Gradient Controls Boundary Position Between Proliferating and Differentiating Cells and Regulates Lacrimal Gland Growth Dynamics.Frontiers in genetics · 2019Article
- Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature.Journal of clinical and experimental dentistry · 2018Article
- The Role of Fibroblast Growth Factors in Tooth Development and Incisor Renewal.Stem cells international · 2018Review
- FGF10 and Human Lung Disease Across the Life Spectrum.Frontiers in genetics · 2018Review
- Bones, Glands, Ears and More: The Multiple Roles of FGF10 in Craniofacial Development.Frontiers in genetics · 2018Review
- Lacrimal gland development: From signaling interactions to regenerative medicine.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by abnormalities in lacrimal and salivary glands, in teeth, and in the distal limbs. Genetic studies have implicated heterozygous mutations in fibroblast growth factor 10 (FGF10) and in FGF receptor 2 (FGFR2) in LADD syndrome. However, it is not clear whether LADD syndrome mutations (LADD mutations) are gain- or loss-of-function mutations. In order to reveal the molecular mechanism underlying LADD syndrome, we have compared the biological properties of FGF10 LADD and FGFR2 LADD mutants to the activities of their normal counterparts. These experiments show that the biological activities of three different FGF10 LADD mutants are severely impaired by different mechanisms. Moreover, haploinsufficiency caused by defective FGF10 mutants leads to LADD syndrome. We also demonstrate that the tyrosine kinase activities of FGFR2 LADD mutants expressed in transfected cells are strongly compromised. Since tyrosine kinase activity is stimulated by ligand-induced receptor dimerization, FGFR2 LADD mutants may also exert a dominant inhibitory effect on signaling via wild-type FGFR2 expressed in the same cell. These experiments underscore the importance of signal strength in mediating biological responses and that relatively small changes in receptor signaling may influence the outcome of developmental processes in cells or organs that do not possess redundant signaling pathway.
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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.