| Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis. | Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis.
Chen T, Liu Y, Zhao Y, Wang M, Song L, Jiang Y. | 11/7/2024 |
| Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis. | 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. | 06/8/2023 |
| Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships. | 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. | 12/24/2022 |
| A recurrent pathogenic ADAMTSL4 variant is a major cause of early onset autosomal recessive ectopia lentis in a Cook Island Maori population and associated with a common haplotype, suggesting a founder effect. | ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
van Bysterveldt KA, Al Taie R, Ikink W, Oliver VF, Vincent AL. | 12/2/2017 |
| study reports a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral ectopia lentis | A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Reinstein E, Smirin-Yosef P, Lagovsky I, Davidov B, Peretz Amit G, Neumann D, Orr-Urtreger A, Ben-Shachar S, Basel-Vanagaite L. | 10/29/2016 |
| ADAMTSL4 mutations are the main cause for isolated ectopia lentis with an early onset of symptoms and possible severe ocular complications. | ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Neuhann TM, Stegerer A, Riess A, Blair E, Martin T, Wieser S, Kläs R, Bouman A, Kuechler A, Rittinger O. | 06/11/2016 |
| Compound heterozygous c.1783dupT and c. 2594G>A mutations of ADAMTSL4 gene were causative mutations for this family with isolated non-syndromic ectopia lentis | Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.
Zhou XM, Wang Y, Zhao L, Yu WH, Fan N, Yan NH, Su Q, Liang YQ, Wang Y, Li LP, Cai SP, Jonas JB, Liu XY. | 06/27/2015 |
| We have confirmed the gene and protein expression of ADAMTSL4 in human ocular tissue. The pattern of expression may suggest further functions of this gene beyond those suggested by its causative role in isolated ectopia lentis. | Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina.
Chandra A, Jones M, Cottrill P, Eastlake K, Limb GA, Charteris DG. | 10/26/2013 |
| This is the first detailed report of a possible genetic determinant of craniosynostosis with ectopia lentis. | Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.
Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G. | 08/31/2013 |
| Patients from a family with ectopia lentis et pupillae (ELP) in four generations have autosomal recessive ELP caused by novel mutations in ADAMTSL4. | Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.
Sharifi Y, Tjon-Fo-Sang MJ, Cruysberg JR, Maat-Kievit AJ. | 06/22/2013 |
| Mutations in ADAMTSL4 appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length. | A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G. | 10/13/2012 |
| Enhanced fibrillin-1 deposition in the presence of ADAMTSL4 and colocalization of ADAMTSL4 with fibrillin-1 in the ECM of cultured fibroblasts suggest a potential role for ADAMTSL4 in the formation or maintenance of the zonule. | ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.
Gabriel LA, Wang LW, Bader H, Ho JC, Majors AK, Hollyfield JG, Traboulsi EI, Apte SS., Free PMC Article | 03/31/2012 |
| The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population. | A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.
Neuhann TM, Artelt J, Neuhann TF, Tinschert S, Rump A. | 04/2/2011 |
| Ectopia lentis et pupillae is associated with a number of malformations primarily in the anterior segment of the eye. | A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E. | 01/15/2011 |
| This study confirms that homozygous mutations in ADAMTSL4 are associated with autosomal-recessive ectopia lentis in British families. | Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Aragon-Martin JA, Ahnood D, Charteris DG, Saggar A, Nischal KK, Comeglio P, Chandra A, Child AH, Arno G. | 10/23/2010 |
| Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive ectopia lentis. | Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.
Greene VB, Stoetzel C, Pelletier V, Perdomo-Trujillo Y, Liebermann L, Marion V, De Korvin H, Boileau C, Dufier JL, Dollfus H. | 04/12/2010 |
| Mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and this proteins affectsthe development of the zonular fibers. | A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.
Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H., Free PMC Article | 01/21/2010 |