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ProteomicsComparative Thyroglobulin Interactome Profiling
Thyroglobulin (Tg) is a secreted iodoglycoprotein serving as the precursor for T3 and T4 hormones. Many characterized Tg gene mutations produce secretion-defective variants resulting in congenital hypothyroidism (CH). Tg processing and secretion is controlled by extensive interactions with chaperone...
ORGANISM(S): Homo sapiens (Human) 
2020-11-20 | PXD019427 | Pride
Protein quality control Interactomics Thyroglobulin Congenital hypothyroidism Quantitative proteomics Ap-ms Proteostasis Protein folding 
ProteomicsProtein disulfide isomerase ERp57 protects early muscle denervation in experimental ALS
Amyotrophic lateral sclerosis (ALS) is a progressive fatal neurodegenerative disease that affects motoneurons. Mutations in superoxide dismutase 1 (SOD1) have been described as a causative genetic factor for ALS. Mice overexpressing ALS-linked mutant SOD1 develop ALS symptoms accompanied by histopat...
ORGANISM(S): Mus musculus (Mouse) 
2021-02-08 | PXD023647 | Pride
Neuromuscular junction Erp57 Protein aggregation Amyotrophic lateral sclerosis Mutant sod1 
TranscriptomicsTranscription profiling of mouse hematopoietic cells at different differentiation stages: hematopoietic stem cells (HSCs), progenitor cells (HPCs), and granulocytes somatic cells are more efficient than adult stem cells for cloning by somatic cell nuclear transfer
Since the creation of Dolly, the first sheep cloned via somatic cell nuclear transfer (SCNT), in 1997, more than a dozen species of mammals have been cloned using this technology. One hypothesis for the limited success of cloning via SCNT (1-5%) is that the clones are likely derived from adult stem...
ORGANISM(S): Mus musculus 
2008-06-14 | E-GEOD-5677 | biostudies-arrayexpress
UnknownCINPA1 binds directly to constitutive androstane receptor and inhibits its activity.
Not available
S-EPMC5960625 | biostudies-literature
UnknownThe phenotypic spectrum of PTCD3 deficiency.
Not available
S-EPMC11558465 | biostudies-literature
UnknownHematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
Not available
S-EPMC7046837 | biostudies-literature
UnknownLongitudinal Phenotypes of Respiratory Health in a High-Risk Urban Birth Cohort.
Not available
S-EPMC6353010 | biostudies-literature
UnknownInfections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.
Not available
S-EPMC8388237 | biostudies-literature
UnknownOutcomes of eyes with lesions composed of >50% blood in the Comparison of Age-related Macular Degeneration Treatments Trials (CATT).
Not available
S-EPMC4306628 | biostudies-literature
UnknownHeterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Not available
S-EPMC6688907 | biostudies-literature
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