Paper · 24251637
Novel mutations in geleophysic dysplasia type 1.
Porayette P and 7 others. Pediatr Dev Pathol, 2014. Cited by 13 papers, by iCite.
11 sourcespapers-2026-11-12-0.1.0
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ConductScience Library. Novel mutations in geleophysic dysplasia type 1. Papers, record 24251637. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/24251637
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Paper
PubMed's record of the paper, with iCite's citation figures. No abstract is shown.
Topics9
NLM's MeSH indexing of the paper, its major topics first.
| MeSH term | Major |
|---|---|
| ADAM Proteins | Major topic |
| Bone Diseases, Developmental | Major topic |
| Limb Deformities, Congenital | Major topic |
| ADAMTS Proteins | |
| Abnormalities, Multiple | |
| Humans | |
| Infant | |
| Male | |
| Mutation |
Source PubMed
Grants0
Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.
None in this release.
Trials0
The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.
None in this release.
Comments and corrections0
PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.
None in this release.
References0
The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.
None in this release.
Cited by5
The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 13 citations.
| PMID | Title | Journal | Year | In Papers | Source |
|---|---|---|---|---|---|
| 41,864,337 | The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice. | Am J Pathol | 2026 | https://conductscience.org/library/papers/41864337 | PubMed |
| 38,439,105 | The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact. | Fluids Barriers CNS | 2024 | https://conductscience.org/library/papers/38439105 | PubMed |
| 33,157,092 | Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions. | Exp Neurol | 2021 | https://conductscience.org/library/papers/33157092 | PubMed |
| 31,516,831 | Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking. | Mol Genet Metab Rep | 2019 | https://conductscience.org/library/papers/31516831 | PubMed |
| 30,700,554 | Myocardial-specific ablation of Jumonji and AT-rich interaction domain-containing 2 (Jarid2) leads to dilated cardiomyopathy in mice. | J Biol Chem | 2019 | https://conductscience.org/library/papers/30700554 | PubMed |
Genes2
The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.
| Gene | NCBI Gene ID | Linked by | In Genes | Source |
|---|---|---|---|---|
| ADAMTSL2 | 9,719 | PubTator's text mining | https://conductscience.org/library/genes/9719 | NCBI Gene |
| FBN1 | 2,200 | PubTator's text mining | https://conductscience.org/library/genes/2200 | NCBI Gene |
Drugs0
The drugs whose trials, in the Pipelines release, list the paper.
None in this release.
Data0
The data bank entries PubMed's record names. Trial numbers are under Trials.
None in this release.
Data dates
The date of each source this release read.
- Trials
- 2026-11-12
- Gene search
- 2026-11-11
- Pipelines
- 2026-09-18
Sources 11
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- HGNCCC0
- iCiteCC BY 4.0
- NCBI GenePublic domain (US government)
- NIH RePORTER's grant and paper linksPublic domain
- Open TargetsCC0 1.0
- PMC's ID filePublic domain (US government)
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- HGNCCC0: https://www.genenames.org/about/license/
- iCiteCC BY 4.0
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
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