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ADAMTSL4 is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats.
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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.
study reports a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral ectopia lentis
ADAMTSL4 mutations are the main cause for isolated ectopia lentis with an early onset of symptoms and possible severe ocular complications.
Compound heterozygous c.1783dupT and c. 2594G>A mutations of ADAMTSL4 gene were causative mutations for this family with isolated non-syndromic ectopia lentis
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.
Patients from a family with ectopia lentis et pupillae (ELP (zeige NR5A1 ELISA Kits)) in four generations have autosomal recessive ELP (zeige NR5A1 ELISA Kits) caused by novel mutations in ADAMTSL4.
Mutations in ADAMTSL4 appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length.
Enhanced fibrillin-1 (zeige FBN1 ELISA Kits) deposition in the presence of ADAMTSL4 and colocalization of ADAMTSL4 with fibrillin-1 (zeige FBN1 ELISA Kits) in the ECM (zeige MMRN1 ELISA Kits) of cultured fibroblasts suggest a potential role for ADAMTSL4 in the formation or maintenance of the zonule.
The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population.
This study confirms that homozygous mutations in ADAMTSL4 are associated with autosomal-recessive ectopia lentis in British families.
the first ADAMTSL4 (zeige THSD4 ELISA Kits) mouse model, tvrm267, bearing a nonsense mutation in Adamtsl4 (zeige THSD4 ELISA Kits)
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
, thrombospondin repeat containing 1
, ADAMTS-like protein 4
, thrombospondin repeat-containing protein 1
, thrombospondin repeat protein 1