ADAMTSL4 Antibody

1. 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. PMID: 28394649
2. study reports a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral ectopia lentis PMID: 26653794
3. ADAMTSL4 mutations are the main cause for isolated ectopia lentis with an early onset of symptoms and possible severe ocular complications. PMID: 25975359
4. Compound heterozygous c.1783dupT and c. 2594G>A mutations of ADAMTSL4 gene were causative mutations for this family with isolated non-syndromic ectopia lentis PMID: 24802351
5. 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. PMID: 23846871
6. This is the first detailed report of a possible genetic determinant of craniosynostosis with ectopia lentis. PMID: 22871183
7. Patients from a family with ectopia lentis et pupillae (ELP) in four generations have autosomal recessive ELP caused by novel mutations in ADAMTSL4. PMID: 23426735
8. Mutations in ADAMTSL4 appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length. PMID: 22736615
9. 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. PMID: 21989719
10. The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population. PMID: 21051722
11. Ectopia lentis et pupillae is associated with a number of malformations primarily in the anterior segment of the eye. PMID: 20702823
12. This study confirms that homozygous mutations in ADAMTSL4 are associated with autosomal-recessive ectopia lentis in British families. PMID: 20564469
13. 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. PMID: 20141359
14. Mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and this proteins affectsthe development of the zonular fibers. PMID: 19200529

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HGNC: 19706

OMIM: 225100

KEGG: hsa:54507

STRING: 9606.ENSP00000271643

UniGene: Hs.516243