|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The search terms we used were "SJOGREN-LARSSON SYNDROME" AND "HYPERMELANNOSIS" OR "FALDH" (from 1985).
|
31697031 |
2019 |
|
Sjogren-Larsson Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Aldh3a2 KO mice showed several abnormalities corresponding to SLS symptoms in behavioral tests, including increased paw slips on a balance beam and light-induced anxiety.
|
30085884 |
2019 |
|
Sjogren-Larsson Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results reinforce the distinct clinical, radiological, and biochemical features of ALDH3A2-related SLS which are the clue for targeted molecular testing.
|
31388754 |
2019 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The MOL1592 family included three affected subjects with crystalline retinopathy, skin ichthyosis, short stature and congenital adrenal hypoplasia, and were found to harbour a homozygous nonsense mutation (c.682C>T, p.Arg228Cys) in ALDH3A2, reported to cause Sjögren-Larsson syndrome (SLS).
|
30925032 |
2019 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We review the genetic, biochemical and clinical aspects of SLS with a particular focus on the ophthalmologic features of the disease.<b>Methods</b>: Published reports of SLS are combined with clinical experience to provide an overview of this disease.<b>Results</b>: SLS is caused by bi-allelic mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase, a key enzyme needed for the metabolism of long-chain aliphatic aldehydes and alcohols.
|
31512987 |
2019 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH).
|
30372562 |
2019 |
|
Sjogren-Larsson Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The muscle weights of gastrocnemius (0.132 ± 0.003 g vs. 0.115 ± 0.003 g in Beta-L and SLS, respectively, p < 0.01) and tibialis anterior (0.043 ± 0.001 vs. 0.027 ± 0.002 in Beta-L and SLS, respectively, p < 0.001) were significantly heavier in Beta-L-treated mice than that in SLS-treated mice in immobilization group, which was accompanied by improved skeletal muscle function as tested by treadmill exhaustion and grip strength test.
|
31454520 |
2019 |
|
Sjogren-Larsson Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this study, we mixed a enterotoxin fusion protein SLS (STa-LTB-STb) with the main fimbrial F4ac and F5 antigens as a novel multivalent vaccine candidate.
|
29287679 |
2018 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.
|
29183715 |
2018 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ultimately, whole-exome sequencing revealed a heterozygous compound mutation in the ALDH3A2 gene that corresponds to Sjogren-Larsson syndrome: an exon 9 deletion (1291-1292delAA) from the mother and an exon 5 splicing mutation (798 + 1delG) from the father.
|
30157790 |
2018 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols.
|
28543186 |
2018 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Child Neurology: Sjögren-Larsson syndrome.
|
28025403 |
2017 |
|
Sjogren-Larsson Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Child Neurology: Sjögren-Larsson syndrome.
|
28025403 |
2017 |
|
Sjogren-Larsson Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Discovery of a series of aromatic lactones as ALDH1/2-directed inhibitors.
|
25641190 |
2015 |
|
Sjogren-Larsson Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge, this mutation is novel and our findings broaden the mutation spectrum of ALDH3A2 causing SLS phenotype.
|
25855245 |
2015 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
|
25047030 |
2014 |
|
Sjogren-Larsson Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
|
25047030 |
2014 |
|
Sjogren-Larsson Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nevertheless, studies in SLS highlight the critical importance of FALDH and normal fatty aldehyde/alcohol metabolism for epidermal function.
|
24036493 |
2014 |
|
Sjogren-Larsson Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that variation in the neurologic phenotype of Sjögren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or the biochemical defect as expressed in cultured fibroblasts, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms.
|
23034980 |
2013 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
|
21872273 |
2012 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid.
|
22426667 |
2012 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We suggest that, (1) when clinical and MR features are present, direct sequencing of the ALDH3A2 gene in SLS is of particular interest without necessity of a skin biopsy for enzymatic assay in order to propose genetic counsel and (2) identification of mutations already described in the same population with putative founder effects may simplify genetic analysis in this context.
|
21872273 |
2012 |
|
Sjogren-Larsson Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea.
|
21684788 |
2011 |