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ADAMTSL4-Related Eye Disorders.
Rødahl E, Mellgren AEC, Boonstra NE, Knappskog PM. Rødahl E, et al. 2012 Feb 16 [updated 2020 Jul 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Feb 16 [updated 2020 Jul 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22338190 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" as well as more minor eye anomalies with no displacement of the pupi …
CLINICAL CHARACTERISTICS: The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as "autoso …
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Knight LSW, Mullany S, Taranath DA, Ruddle JB, Barnett CP, Sallevelt SCEH, Berry EC, Marshall HN, Hollitt GL, Souzeau E, Craig JE, Siggs OM. Knight LSW, et al. Mol Vis. 2022 Sep 4;28:257-268. eCollection 2022. Mol Vis. 2022. PMID: 36284667 Free PMC article. Review.
PURPOSE: ADAMTSL4-associated ectopia lentis is a rare autosomal recessive condition that is primarily associated with crystalline lens displacement. ...METHODS: A cross-sectional case study series of four individuals with biallelic pathogenic or likely pathogenic ADAMTS …
PURPOSE: ADAMTSL4-associated ectopia lentis is a rare autosomal recessive condition that is primarily associated with crystalline len …
A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.
Wei H, Meng X, Qin H, Li X. Wei H, et al. J Med Case Rep. 2023 Dec 26;17(1):532. doi: 10.1186/s13256-023-04272-7. J Med Case Rep. 2023. PMID: 38146062 Free PMC article. Review.
Herein, we report the case of a six-year-old girl with a confirmed diagnosis of isolated ectopia lentis caused by a compound heterozygous ADAMTSL4 gene mutation. CASE PRESENTATION: The patient was a 6-year-old Chinese Han girl with strabismus in the right eye. ...Gene dete …
Herein, we report the case of a six-year-old girl with a confirmed diagnosis of isolated ectopia lentis caused by a compound heterozygous …
ADAMTSL4-related ectopia lentis: A case of pseudodominance with an asymptomatic parent.
Scanga HL, Nischal KK. Scanga HL, et al. Am J Med Genet A. 2022 Jun;188(6):1853-1857. doi: 10.1002/ajmg.a.62698. Epub 2022 Feb 26. Am J Med Genet A. 2022. PMID: 35218299
Pathogenic variants of ADAMTSL4 are associated with autosomal recessive ectopia lentis et pupillae and isolated ectopia lentis, often presenting congenitally or in childhood. ...Molecular evaluation revealed compound heterozygosity for ADAMTSL4 pathogenic variants i …
Pathogenic variants of ADAMTSL4 are associated with autosomal recessive ectopia lentis et pupillae and isolated ectopia lentis, often …
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, ADAMTS20, AD …
Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.
Guo D, Yang F, Zhou Y, Zhang X, Cao Q, Jin G, Zheng D. Guo D, et al. Br J Ophthalmol. 2023 Jun;107(6):774-779. doi: 10.1136/bjophthalmol-2021-320475. Epub 2022 Jan 18. Br J Ophthalmol. 2023. PMID: 35042684
RESULTS: Overall, biallelic mutations in ADAMTSL4, involving 8 novel ADAMTSL4 mutations (c.21-2A>G, c.1174G>C, c.2169C>A, c.2236C>T, c.2263delG, c.2397C>A, c.2488dupC and c.2935T>C) were identified in 5 probands (5/127, 3.94%) with IEL. ...Most of …
RESULTS: Overall, biallelic mutations in ADAMTSL4, involving 8 novel ADAMTSL4 mutations (c.21-2A>G, c.1174G>C, c.2169C&g …
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX, Jia WN, Sun Y, Chen TH, Zhao ZN, Lan LN, Liu Y, Song LH, Jiang YX. Chen ZX, et al. Hum Mutat. 2022 Dec;43(12):2141-2152. doi: 10.1002/humu.24483. Epub 2022 Oct 17. Hum Mutat. 2022. PMID: 36208099
The genotype-phenotype correlation was assessed via a systematic review of ADAMTSL4 variants within our data and those from the literature. A total of 12 variants of ADAMTSL4, including seven frameshift variants, one nonsense variant, two splicing variants, and two …
The genotype-phenotype correlation was assessed via a systematic review of ADAMTSL4 variants within our data and those from the liter …
ADAMTSL4, a Secreted Glycoprotein, Is a Novel Immune-Related Biomarker for Primary Glioblastoma Multiforme.
Zhao Z, Zhang KN, Chai RC, Wang KY, Huang RY, Li GZ, Wang YZ, Chen J, Jiang T. Zhao Z, et al. Dis Markers. 2019 Jan 8;2019:1802620. doi: 10.1155/2019/1802620. eCollection 2019. Dis Markers. 2019. PMID: 30728876 Free PMC article.
Several bioinformatic methods and predictive tools were applied to investigate the ADAMTSL4-associated immune microenvironment status. RESULTS: We found that ADAMTSL4 was enriched in GBM (WHO grade IV), especially for those with IDH1/2 wild-type and MGMT unmethylate …
Several bioinformatic methods and predictive tools were applied to investigate the ADAMTSL4-associated immune microenvironment status …
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
van Bysterveldt KA, Al Taie R, Ikink W, Oliver VF, Vincent AL. van Bysterveldt KA, et al. Ophthalmic Genet. 2017 Dec;38(6):537-543. doi: 10.1080/13816810.2017.1309552. Epub 2017 Apr 10. Ophthalmic Genet. 2017. PMID: 28394649
Haplotype analysis used tagged single nucleotide polymorphic markers. RESULTS: Mutational analysis of ADAMTSL4 identified two pathogenic variants in ADAMTSL4 in 11/31 (35%) probands, consistent with the autosomal recessive EL phenotype. A recurrent, rare missense va …
Haplotype analysis used tagged single nucleotide polymorphic markers. RESULTS: Mutational analysis of ADAMTSL4 identified two pathoge …
Identification and validation of a novel senescence-related biomarker for thyroid cancer to predict the prognosis and immunotherapy.
Hong K, Cen K, Chen Q, Dai Y, Mai Y, Guo Y. Hong K, et al. Front Immunol. 2023 Jan 24;14:1128390. doi: 10.3389/fimmu.2023.1128390. eCollection 2023. Front Immunol. 2023. PMID: 36761753 Free PMC article.
The validation part demonstrated that ADAMTSL4, DOCK6, FAM111B, and SEMA6B were expressed at higher levels in the tumor tissue, whereas lower expression of MRPS10 and PSMB7 was observed. ...
The validation part demonstrated that ADAMTSL4, DOCK6, FAM111B, and SEMA6B were expressed at higher levels in the tumor tissue, where …
79 results