ArticleGenesis (New York, N.Y. : 2000)2013
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects.
Article in Genesis (New York, N.Y. : 2000), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Effects of Smoothened Agonist Exposure on Murine Craniofacial Development.International dental journal · 2026Article
- Cis-regulatory evolution shapes facial diversity in birds and mammals.Science advances · 2026Article
- Differential regulation of coronal and lambdoid suture patency by PTHLH and HHIP activity in mice.Development (Cambridge, England) · 2025Article
- Hedgehog Signalling in Osteogenesis and Bone Metabolism: Molecular Mechanisms, Regulatory Networks and Implications for Skeletal Disease.Journal of cellular and molecular medicine · 2025Review
- Crosstalk Between Wnt/β-Catenin and Hedgehog Supports Gli1+ Lineage Osteogenesis in Cranial Sutures.International journal of molecular sciences · 2025Article
- Loss of Sc5d results in micrognathia due to a failure in osteoblast differentiation.Journal of advanced research · 2024Article
- Evolutionary genetics of flipper forelimb and hindlimb loss from limb development-related genes in cetaceans.BMC genomics · 2022Article
- Single-cell analysis identifies a key role for Hhip in murine coronal suture development.Nature communications · 2021Article
- Controlling tissue patterning by translational regulation of signaling transcripts through the core translation factor eIF3c.Developmental cell · 2021Article
- Identification of rareGenes & diseases · 2021Article
- Defining a critical period in calvarial development for Hedgehog pathway antagonist-induced frontal bone dysplasia in mice.International journal of oral science · 2019Article
- De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.Neuron · 2018Article
- GαBone research · 2018Article
- Signaling networks in joint development.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
- Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.Nature communications · 2017Article
- Regulation of Calvarial Osteogenesis by Concomitant De-repression of GLI3 and Activation of IHH Targets.Frontiers in physiology · 2017Article
- Effects of thyroxine exposure on the Twist 1 +/- phenotype: A test of gene-environment interaction modeling for craniosynostosis.Birth defects research. Part A, Clinical and molecular teratology · 2016Article
- MEMO1 drives cranial endochondral ossification and palatogenesis.Developmental biology · 2016Article
- The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data.Developmental biology · 2016Review
- The Morphogenesis of Cranial Sutures in Zebrafish.PloS one · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Mouse models provide valuable opportunities for probing the underlying pathology of human birth defects. By using an N-ethyl-N-nitrosourea-based screen for recessive mutations affecting craniofacial anatomy, we isolated a mouse strain, Dogface-like (DL), with abnormal skull and snout morphology. Examination of the skull indicated that these mice developed craniosynostosis of the lambdoid suture. Further analysis revealed skeletal defects related to the pathology of basal cell nevus syndrome (BCNS) including defects in development of the limbs, scapula, ribcage, secondary palate, cranial base, and cranial vault. In humans, BCNS is often associated with mutations in the Hedgehog receptor PTCH1 and genetic mapping in DL identified a point mutation at a splice donor site in Ptch1. By using genetic complementation analysis we determined that DL is a hypomorphic allele of Ptch1, leading to increased Hedgehog signaling. Two aberrant transcripts are generated by the mutated Ptch1(DL) gene, which would be predicted to reduce significantly the levels of functional Patched1 protein. This new Ptch1 allele broadens the mouse genetic reagents available to study the Hedgehog pathway and provides a valuable means to study the underlying skeletal abnormalities in BCNS. In addition, these results strengthen the connection between elevated Hedgehog signaling and craniosynostosis.
Indexed as
Identifiers
What OpenQuestion holds
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.