ConductScience.org, home
Papers
API referenceFor AI assistants

Paper · 16501574

Mutations in different components of FGF signaling in LADD syndrome.

Rohmann E and 21 others. Nat Genet, 2006. Cited by 163 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

Download JSON
Cite this record

ConductScience Library. Mutations in different components of FGF signaling in LADD syndrome. Papers, record 16501574. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/16501574

On this page

Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title
Mutations in different components of FGF signaling in LADD syndrome.
PubMed
Journal
Nat Genet
PubMed
Year
2006
PubMed
Publication types
Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't
PubMed
Citations, by iCite
163
iCite
Relative citation ratio, by iCite
3.68
iCite
Revised in PubMed
2012-06-05
PubMed

Authors22

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

OrderAuthorForenameKindORCID iD
1Rohmann EEdyta
2Brunner HGHan G
3Kayserili HHülya
4Uyguner OOya
5Nürnberg GGudrun
6Lew EDErin D
7Dobbie AAngus
8Eswarakumar VPVeraragavan P
9Uzumcu AAbdullah
10Ulubil-Emeroglu MMelike

1 to 10 of 22Source PubMed

See all 22 authors

Topics11

NLM's MeSH indexing of the paper, its major topics first.

MeSH termMajor
Abnormalities, MultipleMajor topic
Fibroblast Growth FactorsMajor topic
MutationMajor topic
Signal TransductionMajor topic
Female
Humans
Male
Pedigree
Receptor, Fibroblast Growth Factor, Type 2
Receptor, Fibroblast Growth Factor, Type 3
Syndrome

Source PubMed

Grants2

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.

Grant, as the record writes itAgencyCountryNIH projectStated bySource
R01-AR051448NIAMS NIH HHSUnited StatesR01AR051448PubMed and NIHNIH RePORTER
R01-AR051886NIAMS NIH HHSUnited StatesR01AR051886PubMed and NIHNIH RePORTER

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 by96

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 163 citations.

PMIDTitleJournalYearIn PapersSource
42,762,961Receptor tyrosine kinase signaling in mammalian eye development.Dev Biol2026https://conductscience.org/library/papers/42762961PubMed
41,832,306FGF family in health and disease.Mol Biomed2026https://conductscience.org/library/papers/41832306PubMed
41,828,344Fgf10 Gene Dosage from a Single Allele Is Insufficient for Forming Multilayered Epithelial Cells in the Murine Lacrimal Gland.Int J Mol Sci2026https://conductscience.org/library/papers/41828344PubMed
41,823,500Genetic Regulation of Wnt/PCP Components Through Fgf10/Fgfr2/Sox9 Module in Tear Duct Development.Invest Ophthalmol Vis Sci2026https://conductscience.org/library/papers/41823500PubMed
41,743,400Pathology and Therapeutic Significance of Fibroblast Growth Factors.Targets (Basel)2025https://conductscience.org/library/papers/41743400PubMed
41,572,294The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.BMC Med Genomics2026https://conductscience.org/library/papers/41572294PubMed
40,956,622Abrogation of FGFR signaling blocks β-catenin-induced adrenocortical hyperplasia and aldosterone production.JCI Insight2025https://conductscience.org/library/papers/40956622PubMed
40,362,441Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype.Int J Mol Sci2025https://conductscience.org/library/papers/40362441PubMed
40,226,226Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report.Am J Ophthalmol Case Rep2025https://conductscience.org/library/papers/40226226PubMed
39,766,329Decoding FGF/FGFR Signaling: Insights into Biological Functions and Disease Relevance.Biomolecules2024https://conductscience.org/library/papers/39766329PubMed

1 to 10 of 96

See all 96 cited by

Genes3

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

GeneNCBI Gene IDLinked byIn GenesSource
FGF102,255Swiss-Prot's referenceshttps://conductscience.org/library/genes/2255NCBI Gene
FGFR22,263Swiss-Prot's referenceshttps://conductscience.org/library/genes/2263NCBI Gene
FGFR32,261Swiss-Prot's referenceshttps://conductscience.org/library/genes/2261NCBI 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.

PubMed
2026-11-06
PubMed
iCite
2026-11-05
iCite
PMC's ID file
2026-11-05
PMC's ID file
NIH RePORTER's grant and paper links
2026-11-01
NIH RePORTER's grant and paper links
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.

For software

Read this paper from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/papers/v1/16501574

GET https://conductscience.org/api/papers/v1/16501574/authors?page=2

API referenceFor AI assistants