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ADAMTS proteins in human disorders.
Mead TJ, Apte SS. Mead TJ, et al. Matrix Biol. 2018 Oct;71-72:225-239. doi: 10.1016/j.matbio.2018.06.002. Epub 2018 Jun 6. Matrix Biol. 2018. PMID: 29885460 Free PMC article. Review.
Indeed, Mendelian disorders or birth defects resulting from naturally occurring ADAMTS2, ADAMTS3, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS20, ADAMTSL2 and ADAMTSL4 mutations as well as numerous phenotypes identified in genetically engineered mice have revealed ADAMTS participa …
Indeed, Mendelian disorders or birth defects resulting from naturally occurring ADAMTS2, ADAMTS3, ADAMTS10, ADAMTS13, ADAMTS17, ADAMT …
Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.
Zhang Y, Li J, Ji Y, Cheng Y, Fu X. Zhang Y, et al. Hum Mutat. 2022 Dec;43(12):2102-2115. doi: 10.1002/humu.24473. Epub 2022 Sep 30. Hum Mutat. 2022. PMID: 36124393
We reported de novo variants in specific exons of the TBX15 and ADAMTS2 genes in a hitherto undescribed class of patients with unique craniofacial developmental defects. ...Based on these data, we propose that the disruption of the TBX15-ADAMTS2 signaling pathway du …
We reported de novo variants in specific exons of the TBX15 and ADAMTS2 genes in a hitherto undescribed class of patients with unique …
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family.
Kelwick R, Desanlis I, Wheeler GN, Edwards DR. Kelwick R, et al. Genome Biol. 2015 May 30;16(1):113. doi: 10.1186/s13059-015-0676-3. Genome Biol. 2015. PMID: 26025392 Free PMC article. Review.
The human family includes 19 members that can be sub-grouped on the basis of their known substrates, namely the aggrecanases or proteoglycanases (ADAMTS1, 4, 5, 8, 9, 15 and 20), the procollagen N-propeptidases (ADAMTS2, 3 and 14), the cartilage oligomeric matrix protein-c …
The human family includes 19 members that can be sub-grouped on the basis of their known substrates, namely the aggrecanases or proteoglycan …
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.
Angwin C, Byers P, Dulfer E, Ghali N, Harris J, Hausser I, McElroy A, Sobey G, van Dijk FS. Angwin C, et al. Am J Med Genet A. 2025 Apr;197(4):e63957. doi: 10.1002/ajmg.a.63957. Epub 2024 Dec 6. Am J Med Genet A. 2025. PMID: 39641471
Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19 years at follow-up. ...
Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2 …
Identification of prognostic biomarkers for papillary thyroid carcinoma by a weighted gene co-expression network analysis.
Meng K, Hu X, Zheng G, Qian C, Xin Y, Guo H, He R, Ge M, Xu J. Meng K, et al. Cancer Med. 2022 May;11(9):2006-2019. doi: 10.1002/cam4.4602. Epub 2022 Feb 12. Cancer Med. 2022. PMID: 35152572 Free PMC article.
Kaplan-Meier analyses revealed that the levels of transmembrane protein 63C (TMEM63C), lysyl oxidase-like 1 (LOXL1), collagen type V alpha 1 chain (COL5A1), ADAM metalloproteinase with thrombospondin type I motif 2 (ADAMTS2), and LysM-domain containing 3 (LYSMD3) were sign …
Kaplan-Meier analyses revealed that the levels of transmembrane protein 63C (TMEM63C), lysyl oxidase-like 1 (LOXL1), collagen type V alpha 1 …
Green space exposure and blood DNA methylation at birth and in childhood - A multi-cohort study.
Aguilar-Lacasaña S, Fontes Marques I, de Castro M, Dadvand P, Escribà X, Fossati S, González JR, Nieuwenhuijsen M, Alfano R, Annesi-Maesano I, Brescianini S, Burrows K, Calas L, Elhakeem A, Heude B, Hough A, Isaevska E, W V Jaddoe V, Lawlor DA, Monaghan G, Nawrot T, Plusquin M, Richiardi L, Watmuff A, Yang TC, Vrijheid M, F Felix J, Bustamante M. Aguilar-Lacasaña S, et al. Environ Int. 2024 Jun;188:108684. doi: 10.1016/j.envint.2024.108684. Epub 2024 Apr 23. Environ Int. 2024. PMID: 38776651 Free article.
However, surrounding greenness exposure was inversely associated with four DMRs (three in cord blood and one in child blood) annotated to ADAMTS2, KCNQ1DN, SLC6A12 and SDK1 genes. Results did not change substantially in the sensitivity analyses. ...
However, surrounding greenness exposure was inversely associated with four DMRs (three in cord blood and one in child blood) annotated to …
Leveraging family history in genetic association analyses of binary traits.
Zhang Y, Meigs JB, Liu CT, Dupuis J, Sarnowski C. Zhang Y, et al. BMC Genomics. 2022 Oct 1;23(1):678. doi: 10.1186/s12864-022-08897-8. BMC Genomics. 2022. PMID: 36182916 Free PMC article.

Using FHS data, we confirmed the well-known association of TCF7L2 region with T2D at the genome-wide threshold of P-value < 5 10(-8), and both familial history methods increased the significance of the region compared to CC-GWAS. We identified two loci at 5q35 (ADAMTS2)

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Using FHS data, we confirmed the well-known association of TCF7L2 region with T2D at the genome-wide threshold of P-value < 5 10(-8), and

…
ADAMTS genes and the risk of cerebral aneurysm.
Arning A, Jeibmann A, Köhnemann S, Brokinkel B, Ewelt C, Berger K, Wellmann J, Nowak-Göttl U, Stummer W, Stoll M, Holling M. Arning A, et al. J Neurosurg. 2016 Aug;125(2):269-74. doi: 10.3171/2015.7.JNS154. Epub 2016 Jan 8. J Neurosurg. 2016. PMID: 26745484
METHODS To identify susceptible genetic variants, the authors investigated 8 single nucleotide polymorphisms (SNPs) in 4 genes from the ADAMTS family (ADAMTS2, -7, -12, and -13) known to be associated with vascular diseases. The study included 353 patients with CAs and 105 …
METHODS To identify susceptible genetic variants, the authors investigated 8 single nucleotide polymorphisms (SNPs) in 4 genes from the ADAM …
32 results