Matches in UGent Biblio for { <https://biblio.ugent.be/publication/520406#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B373125.
- aggregation creator B373126.
- aggregation creator B373127.
- aggregation creator B373128.
- aggregation creator B373129.
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- aggregation creator B373134.
- aggregation creator B373135.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2008".
- aggregation format "application/pdf".
- aggregation hasFormat 520406.bibtex.
- aggregation hasFormat 520406.csv.
- aggregation hasFormat 520406.dc.
- aggregation hasFormat 520406.didl.
- aggregation hasFormat 520406.doc.
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- aggregation hasFormat 520406.txt.
- aggregation hasFormat 520406.xls.
- aggregation hasFormat 520406.yaml.
- aggregation isPartOf urn:issn:0002-9297.
- aggregation language "eng".
- aggregation publisher "CELL PRESS, 600 TECHNOLOGY SQUARE, 5TH FLOOR".
- aggregation title "Biallelic mutation of BEST1 causes a distinct retinopathy in humans".
- aggregation abstract "We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram. Heterozygous mutations in BEST1 have previously been found to cause the two dominantly inherited disorders, Best macular dystrophy and autosomal-dominant vitreoretinochoroidopathy. The transmembrane protein bestrophin-1, encoded by BEST1, is located at the basolateral membrane of the retinal pigment epithelium in which it probably functions as a Cl- channel. We sequenced BEST1 in five families, identifying DNA variants in each of ten alleles. These encoded six different missense variants and one nonsense variant. The alleles segregated appropriately for a recessive disorder in each family. No clinical or electrophysiological abnormalities were identified in any heterozygotes. We conducted whole-cell patch-clamping of HEK293 cells transfected with bestrophin-1 to measure the Cl- current. Two ARB missense isoforms severely reduced channel activity. However, unlike two other alleles previously associated with Best disease, cotransfection with wild-type bestrophin-1 did not impair the formation of active wild-type bestrophin-1 channels, consistent with the recessive nature of the condition. We propose that ARB is the null phenotype of bestrophin-1 in humans.".
- aggregation authorList BK674680.
- aggregation endPage "31".
- aggregation issue "1".
- aggregation startPage "19".
- aggregation volume "82".
- aggregation aggregates 523120.
- aggregation isDescribedBy 520406.
- aggregation similarTo j.ajhg.2007.08.004.
- aggregation similarTo LU-520406.