about
The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epitheliumTMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminalsAn L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindnessAge-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNAGenomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathiesInactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structureHeterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaTapping Stem Cells to Target AMD: Challenges and ProspectsThree novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM familyEFEMP1 is not associated with sporadic early onset drusenSorsby's fundus dystrophy is genetically linked to chromosome 22q13-qterMapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's diseaseMutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical featuresSystemic complement activation in age-related macular degenerationMembrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retinaEvaluation of the G protein coupled receptor-75 (GPR75) in age related macular degenerationGenomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancerMolecular evolution and functional divergence of the bestrophin protein familyCloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins.Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling.An Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology.Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes.Identifying differentially expressed genes in the mammalian retina and the retinal pigment epithelium by suppression subtractive hybridization.MfERG waveform characteristics in the RS1h mouse model featuring a 'negative' ERG.Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.A novel antibody against human properdin inhibits the alternative complement system and specifically detects properdin from blood samples.A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophyFrequency of BRCA1 mutation 5382insC in German breast cancer patients.In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC).A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.Evolution and functional divergence of the anoctamin family of membrane proteinsA circulating microrna profile is associated with late-stage neovascular age-related macular degenerationModelling the genetic risk in age-related macular degeneration.Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people
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P50
subject
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Bernhard H Weber
@ast
Bernhard H Weber
@en
Bernhard H Weber
@es
Bernhard H Weber
@nl
type
label
Bernhard H Weber
@ast
Bernhard H Weber
@en
Bernhard H Weber
@es
Bernhard H Weber
@nl
prefLabel
Bernhard H Weber
@ast
Bernhard H Weber
@en
Bernhard H Weber
@es
Bernhard H Weber
@nl
P1006
P214
P1006
P106
P21
P214
P31
P496
0000-0002-8808-7723
P734
P735
P7859
lccn-nb2013000528