X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (64) 64
humans (56) 56
col8a2 (47) 47
ophthalmology (42) 42
male (39) 39
female (38) 38
fuchs' endothelial dystrophy - genetics (32) 32
missense mutations (29) 29
mutation (29) 29
aged (28) 28
collagen (26) 26
middle aged (26) 26
adult (23) 23
cornea (21) 21
linkage (21) 21
locus (21) 21
endothelium (20) 20
genetics & heredity (19) 19
col8a2 gene (18) 18
collagen type viii - genetics (18) 18
fuchs' endothelial dystrophy - pathology (18) 18
transcription factors - genetics (18) 18
pedigree (17) 17
fuchs' endothelial dystrophy - metabolism (16) 16
mutations (16) 16
endothelial dystrophy (14) 14
aged, 80 and over (13) 13
expression (13) 13
gene expression (13) 13
genetic aspects (13) 13
animals (12) 12
biochemistry & molecular biology (12) 12
corneal dystrophies, hereditary - genetics (12) 12
genetics (12) 12
genotype (12) 12
article (11) 11
corneal dystrophy (11) 11
dystrophy (11) 11
gene (11) 11
mice (11) 11
protein (11) 11
viii collagen (11) 11
base sequence (10) 10
dna mutational analysis (10) 10
endothelium, corneal - metabolism (10) 10
endothelium, corneal - pathology (10) 10
eye diseases (10) 10
fuchs endothelial corneal dystrophy (10) 10
phenotype (10) 10
research article (10) 10
apoptosis (9) 9
cells, cultured (9) 9
corneal endothelium (9) 9
genetic predisposition to disease (9) 9
homeodomain proteins - genetics (9) 9
inheritance (9) 9
penetrating keratoplasty (9) 9
polymerase chain reaction (9) 9
zinc finger e-box-binding homeobox 1 (9) 9
adolescent (8) 8
antiporters - genetics (8) 8
basic helix-loop-helix leucine zipper transcription factors - genetics (8) 8
case-control studies (8) 8
genes (8) 8
genomes (8) 8
mutation, missense (8) 8
sense organs (8) 8
transcription factor 4 (8) 8
analysis (7) 7
anion transport proteins - genetics (7) 7
association (7) 7
chain (7) 7
chromosomes (7) 7
collagen type viii - metabolism (7) 7
corneal dystrophies, hereditary - pathology (7) 7
descemets-membrane (7) 7
disease models, animal (7) 7
molecular sequence data (7) 7
oxidative stress (7) 7
real-time polymerase chain reaction (7) 7
unfolded protein response (7) 7
alleles (6) 6
articles (6) 6
chromosome mapping (6) 6
cornea - pathology (6) 6
dna - genetics (6) 6
endothelial cells (6) 6
gene mutations (6) 6
introns (6) 6
multidisciplinary sciences (6) 6
pathogenesis (6) 6
polymorphism, single nucleotide (6) 6
posterior polymorphous corneal dystrophy (6) 6
research (6) 6
rna, messenger - genetics (6) 6
slc4a11 (6) 6
tcf4 (6) 6
asian continental ancestry group - genetics (5) 5
blotting, western (5) 5
cells (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 1 - 15
Two blinding corneal dystrophies, pediatric-onset congenital hereditary endothelial dystrophy (CHED) and some cases of late-onset Fuchs endothelial corneal... 
MUTANTS | DOMAIN | PROTEIN | INDIAN FAMILIES | MULTIDISCIPLINARY SCIENCES | SEQUENCE | COL8A2 | TRANSPORT FUNCTION | SPECTRUM | MISSENSE MUTATIONS | PREDICTION | Cornea | Immunoglobulins | Translation initiation | Methionine | Antibodies | Reverse transcription | Homology | Cell surface | Endothelium | Polymerase chain reaction | Corneal dystrophy | Dystrophy | Bioinformatics
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2013, Volume 8, Issue 7, pp. e67546 - e67546
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2013, Volume 54, Issue 5, pp. 3215 - 3223
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2008, Volume 82, Issue 5, pp. 1217 - 1222
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 01/2008, Volume 49, Issue 1, pp. 184 - 188
Journal Article
IN VIVO, ISSN 0258-851X, 05/2019, Volume 33, Issue 3, pp. 963 - 971
Background/Aim: Fuchs' endothelial corneal dystrophy (FECD) is a hereditary, progressive, bilateral, and irreversible disorder of the corneal endothelium. The... 
MEDICINE, RESEARCH & EXPERIMENTAL | COLLAGEN | PENETRATING KERATOPLASTY | polymorphism | Fuchs' endothelial corneal dystrophy | MODEL | LOCUS | TRENDS | MISSENSE MUTATIONS | UNFOLDED PROTEIN RESPONSE | DISEASE | COL8A2 | TCF4 | INHERITANCE | ASSOCIATION
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 10/2001, Volume 10, Issue 21, pp. 2415 - 2423
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2016, Volume 11, Issue 6, pp. e0157577 - e0157577
We have previously described a mouse model of human posterior polymorphous corneal dystrophy (PPCD) and localized the causative mutation to a 6.2 Mbp region of... 
CELLS | COMPLEX | VIII COLLAGEN | MULTIDISCIPLINARY SCIENCES | COL8A2 | GENOME-WIDE | IRIDOCORNEAL ENDOTHELIAL SYNDROME | MICE | GENERATION | MUTATIONS | ATAC | Sequence Deletion | Exons | Humans | Corneal Dystrophies, Hereditary - genetics | Histone Acetyltransferases - genetics | RNA, Messenger - metabolism | Genetic Complementation Test | Corneal Dystrophies, Hereditary - pathology | Base Sequence | Histone Acetyltransferases - metabolism | Cornea - pathology | Disease Models, Animal | Genetic Association Studies | Introns | RNA, Messenger - genetics | Chromosomes, Mammalian - chemistry | Chromosome Mapping | Transcription Factors - genetics | Corneal Dystrophies, Hereditary - metabolism | Transcription Factors - metabolism | Carrier Proteins - genetics | Cornea - metabolism | Animals | Carrier Proteins - metabolism | Gene Rearrangement | Adaptor Proteins, Signal Transducing - genetics | Mice | Adaptor Proteins, Signal Transducing - metabolism | Glaucoma | Cornea | Recombination | Transcription factors | Laboratories | Pathogenesis | Oncology | Genomes | Lethality | Kinases | Chromosome rearrangements | Clonal deletion | Deletion | Eye (anatomy) | Complementation | Chromosomes | Public health | Translocation | Medical research | Phenotypes | Statistical analysis | Gene expression | Embryos | Chromosome 2 | Haploinsufficiency | Medicine | Corneal dystrophy | Gene rearrangement | Mutation | Dystrophy | Cancer | Index Medicus
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 10/2017, Volume 65, Issue 10, pp. 931 - 935
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 02/2016, Volume 233, Issue 2, pp. 187 - 194
Background: Fuchs endothelial corneal dystrophy (FECD) is one of the most common indications for corneal transplants. FECD is associated with various genes,... 
PROTEIN | LOCUS | MISSENSE MUTATIONS | CHAIN | repeat expansion | LOXHD1 gene | EXPANSION | COL8A2 | OPHTHALMOLOGY | TP-PCR | Fuchs endothelial corneal dystrophy | LINKAGE | ASSOCIATION | TCF4 gene | MYOTONIC-DYSTROPHY
Journal Article