Paper · 41864337

The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.

Lin C and 8 others. Am J Pathol, 2026. Cited by 0 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice. Papers, record 41864337. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/41864337

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Paper

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

Title: The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.; PubMed
Journal: Am J Pathol; PubMed
Year: 2026; PubMed
Publication types: Journal Article; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/41864337/; PubMed
DOI: https://doi.org/10.1016/j.ajpath.2026.03.002; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC13269634/; PubMed
The journal: https://conductscience.org/library/journal-index/0370502; PubMed
Citations, by iCite: 0; iCite
Revised in PubMed: 2026-10-13; PubMed

Authors9

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

Order	Author	Forename
1	Lin C	Connie
2	Sivakumar DI	Divya I
3	Alcocer AD	Ana D
4	Gavalas ST	Sophia T
5	Taye N	Nandaraj
6	Seifert DE	Deborah E
7	Balic Z	Zerina
8	Mead TJ	Timothy J
9	Hubmacher D	Dirk

Source PubMed

Topics11

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

MeSH term	Major
ADAMTS Proteins	Major topic
Bone Diseases, Developmental	Major topic
Connective Tissue	Major topic
Limb Deformities, Congenital	Major topic
Mutation	Major topic
Animals
Mice
Disease Models, Animal
Humans
Female
Extracellular Matrix Proteins

Source PubMed

Grants0

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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.

References40

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	38,284,126	Secreted ADAMTS-like proteins as regulators of connective tissue function.	Am J Physiol Cell Physiol	2024	https://conductscience.org/library/papers/38284126	PubMed
2	30,195,254	Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.	Am J Med Genet A	2018	https://conductscience.org/library/papers/30195254	PubMed
3	24,251,637	Novel mutations in geleophysic dysplasia type 1.	Pediatr Dev Pathol	2014	https://conductscience.org/library/papers/24251637	PubMed
4	21,683,322	Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.	Am J Hum Genet	2011	https://conductscience.org/library/papers/21683322	PubMed
5	28,158,899	Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.	J Vet Intern Med	2017	https://conductscience.org/library/papers/28158899	PubMed
6	30,303,737	Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.	FASEB J	2019	https://conductscience.org/library/papers/30303737	PubMed
7	32,913,123	O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.	J Biol Chem	2020	https://conductscience.org/library/papers/32913123	PubMed
8	22,743,772	Fiji: an open-source platform for biological-image analysis.	Nat Methods	2012	https://conductscience.org/library/papers/22743772	PubMed
9	24,014,090	Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.	Birth Defects Res A Clin Mol Teratol	2013	https://conductscience.org/library/papers/24014090	PubMed
10	37,656,189	A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle.	Mamm Genome	2023	https://conductscience.org/library/papers/37656189	PubMed

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Cited by0

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 0 citations.

None in this release.

Genes0

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None in this release.

Drugs0

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None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

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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

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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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