1 DOA presents in the first decade of life and manifests a
2 We therefore screened a panel of
35 DOA patients for mutations in OPA1.
3 th losartan or 2',5'-dideoxyadenosine (2',
5'-
DOA, an adenylyl cyclase inhibitor) but not by PD123319
4 ich was abrogated by AG1478 but not by 2',
5'-
DOA.
5 ich was abrogated with co-treatment of 2',
5'-
DOA.
6 ylthioadenosine (MTA), 5'-deoxyadenosine (
5'-
DOA), and 6-amino-6-deoxyfutalosine.
7 of the complex was observed for both HRD
and DOA pathway substrates.
8 Both malate
and DOA did not alter the sensitivity of isoprene emission t
9 mutated in autosomal dominant optic
atrophy (
DOA) (Kjer type), an inherited neuropathy of the retinal
10 s with LHON, 19 with Dominant Optic
Atrophy (
DOA) and 22 healthy controls.
11 Dominant optic
atrophy (
DOA) and axonal peripheral neuropathy (Charcot-Marie-Too
12 ients with autosomal dominant optic
atrophy (
DOA) harbor pathogenic OPA1 mutations and certain missen
13 Autosomal dominant optic
atrophy (
DOA) is a retinal neuronal degenerative disease characte
14 Dominant optic
atrophy (
DOA) is the commonest form of inherited optic neuropathy
15 Autosomal dominant optic
atrophy (
DOA) is the most common form of hereditary optic neuropa
16 afferent function in dominant optic
atrophy (
DOA).
17 transport, and isoprene emission rates,
but DOA feeding did not affect any of these processes except
18 horylation site in vitro for both
Drosophila DOA and tobacco PK12 LAMMER kinases.
19 Although
HLA-
DOA had been shown previously to be regulated by CIITA,
20 PSMB9, HLA-DQB1, HLA-DQB2, HLA-DMA, and
HLA-
DOA), increased CD8 T-cell tumor infiltration (P=7.6x10(
21 pendent risk of a synonymous mutation at
HLA-
DOA, a non-classical HLA gene, on anti-citrullinated pro
22 ing function is selectively inhibited by
HLA-
DOA were 3-fold more numerous during rejection among rej
23 ction, likely because of a dysfunctional
HLA-
DOA gene product.
24 ated significant repression of the first
HLA-
DOA exon closest to rs9296068.
25 transgenic mice that expressed the human
HLA-
DOA and HLA-DOB genes under the control of a dendritic c
26 ss II transactivator (CIITA), identified
HLA-
DOA and HLA-DOB as being up-regulated by CIITA.
27 linkage disequilibrium (LD) patterns in
HLA-
DOA and HLA-DRB1, explaining the observed HLA-DOA varian
28 inor allele G of the SNP rs9296068, near
HLA-
DOA, as being significantly different (P = .018) between
29 OA and HLA-DRB1, explaining the observed
HLA-
DOA variant risk heterogeneity among ethnicities, which
30 titative trait loci (cis-eQTL) effect on
HLA-
DOA expression.
31 HLA-DO, encoded by the
HLA-
DOA and HLA-DOB genes, has been shown to function as a m
32 egion to a 90-kb segment upstream of the
HLA-
DOA gene.
33 rected p=0.036), located in proximity to
HLA-
DOA.
34 In DOA retinal ganglion cells and the optic nerve degenerat
35 ickness was decreased in chronic LHON and
in DOA.
36 is the common outcome in chronic LHON and
in DOA.
37 The gene mutated
in DOA, Optic Atrophy Type 1 (OPA1), encodes a dynamin-rela
38 -specific, indicating that the penetrance
in DOA is much lower than the 98% reported previously.
39 The present study demonstrates that
in DOA, loss of macular RGCs is the earliest pathologic eve
40 eport here that the Drosophila family
member DOA, human SK-G1, and the Saccharomyces cerevisiae KNS1,
41 itochondrial dysfunction in a mouse model
of DOA and documented the visual and neurologic progression
42 istent with it being an in vivo substrate
of DOA kinase.
43 ic optimization (SOA), dynamic
optimization (
DOA), and direct approaches (DA).
44 e inhibitors malate and diethyl
oxalacetate (
DOA) in the strong isoprene emitter hybrid aspen (Populu
45 ontribute to optic nerve dysfunction in
pure DOA.
46 We show here
that DOA is expressed as at least two different protein isofo
47 tified in any LHON patients, indicating
that DOA and LHON are genetically distinct.
48 Although it was recently shown
that DOA kinase is essential for normal sexual differentiatio
49 gly suggesting that the mechanism
underlying DOA is haploinsufficiency.
50 ploinsufficiency is the mechanism
underlying DOA it is unlikely that this figure will be mutation-spe
51 OPA1 disease alleles associated
with DOA display selective defects in several activities, inc
52 NFL and GC-IPL were smaller in patients
with DOA than in healthy controls (P < 0.0001).
53 er plexiform layer (GC-IPL) of patients
with DOA were evaluated by optical coherence tomography (OCT)
54 Patients
with DOA who belonged to families showing evidence of linkage
55 e studied 39 patients from 28 pedigrees
with DOA harboring heterozygous mutations in the OPA1 gene al
56 nteracts in the yeast two-hybrid system
with DOA, the LAMMER protein kinase of Drosophila.