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ProteomicsProtein expression and identification of Tyrp1 Mutant Variants Associated with OCA3 form of albinism.
Oculocutaneous albinism type 3 (OCA3) is an autosomal recessive disorder caused by mutations in the TYRP1 gene. Tyrosinase-related protein 1 (Tyrp1) is involved in eumelanin synthesis, catalyzing the oxidation of 5,6-dihydroxyindole-2-carboxylic acid oxidase (DHICA) to 5,6-indolequinone-2-carboxylic...
ORGANISM(S): Homo sapiens (Human) Escherichia coli 
2023-06-12 | PXD034893 | Pride
Oca3 Albinism Tyrp1 
ProteomicsProtein expression and identification of Tyrp1 Mutant Variants Associated with OCA3 form of albinism.
Oculocutaneous albinism type 3 (OCA3) is an autosomal recessive disorder caused by mutations in the TYRP1 gene. Tyrosinase-related protein 1 (Tyrp1) is involved in eumelanin synthesis, catalyzing the oxidation of 5,6-dihydroxyindole-2-carboxylic acid oxidase (DHICA) to 5,6-indolequinone-2-carboxylic...
ORGANISM(S): Homo sapiens (Human) Escherichia coli 
2023-06-12 | PXD034892 | Pride
Oca3 Albinism Tyrp1 
UnknownIn silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.
Not available
S-EPMC3703794 | biostudies-literature
UnknownTyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding.
Not available
S-EPMC8508144 | biostudies-literature
UnknownIn vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.
Not available
S-EPMC9793978 | biostudies-literature
UnknownMinimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.
Not available
S-EPMC6181301 | biostudies-literature
TranscriptomicsmRNA-seq based gene expression profiling of differentiating murine brown preadipocytes (IBA)
mRNA-sequencing was used to profile temporal changes in gene expression during in vitro differentiation of IBA at five different time points: Day 0 (confluence), 2h (post induction), Day 1, Day 2 and Day 4 (mature brown adipocytes), performed in two biological replicates (with two technical replicat...
ORGANISM(S): Mus musculus 
2017-10-14 | E-MTAB-5160 | biostudies-arrayexpress
TranscriptomicsExpression data from the seed coats of black (iRT) and brown (irT) soybean variant for alleles of the R locus
The seed coat of black (iRT) soybean with the dominant R allele begins to accumulate cyanic pigments at the transition stage of seed development (300 – 400 mg fresh seed weight), whereas the brown (irT) nearly-isogenic seed coat with the recessive r allele lacks cyanic pigments at all stages of seed...
ORGANISM(S): Glycine max 
2011-08-22 | E-GEOD-26208 | biostudies-arrayexpress
TranscriptomicsNext generation sequencing analysis of microRNAs in brown preadipocytes and in vitro differentiated mature brown fat cells
We performed a genome-wide deep sequencing analysis of the microRNAs abundant in mesenchymal stem cells (MSCs) derived from murine brown adipose tissue and in in vitro differentiated mature brown adipocytes. Several microRNAs were identified as differentially regulated when comparing datasets from M...
ORGANISM(S): Mus musculus 
2013-05-28 | E-GEOD-45499 | biostudies-arrayexpress
TranscriptomicsBarcoded mRNA-seq of murine brown preadipocytes (IBA) upon transcriptomic perturbation
Loss of function assays were performed in differentiating IBAs using short hairpin RNAs (shRNAs) against a set of candidate transcription factors: NFIA, DBP, HOXA4, ZFP467, SOX18, ELF3, YBX2 and PPARa. Gene expression profiles of the perturbed and non perturbed (controls including non transduced cel...
ORGANISM(S): Mus musculus 
2017-09-21 | E-MTAB-5161 | biostudies-arrayexpress
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