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GenomicsMutant Huntingtin promotes neuronal death through cell autonomous microglial activation via myeloid lineage- determining factors
Huntington's Disease (HD) is a fatal neurodegenerative disorder caused by an extended polyglutamine repeat in the N-terminus of the huntingtin (Htt) protein. Reactive microglia and elevated cytokine levels are observed in the brains of HD patients, but the extent to which neuroinflammation results f...
ORGANISM(S): Mus musculus 
2014-03-02 | E-GEOD-54443 | biostudies-arrayexpress
TranscriptomicsHuman and marmoset trophoblast stem cells differ in signalling requirements and recapitulate divergent modes of trophoblast invasion
We derive experimental conditions for the derivation of marmoset trophoblast like cells. Marmoset naïve PSC form extraembryonic mesoderm in human TSC conditions, whilst TGFβ/NODAL, FGF/ERK and WNT signalling control marmoset peri- and postimplantation trophoblast identity.
ORGANISM(S): Callithrix jacchus 
2024-11-21 | E-MTAB-12463 | biostudies-arrayexpress
UnknownCharacteristics of undiagnosed diseases network applicants: implications for referring providers.
Not available
S-EPMC6106923 | biostudies-literature
UnknownFurther evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
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S-EPMC6169826 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
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S-EPMC7767569 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
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S-EPMC8664895 | biostudies-literature
UnknownIgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Not available
S-EPMC6565556 | biostudies-literature
UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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S-EPMC7447524 | biostudies-literature
UnknownOlfactory Dysfunction After SARS-CoV-2 Infection in the RECOVER Adult Cohort.
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S-EPMC12464792 | biostudies-literature
UnknownAssociation of Renin Angiotensin Aldosterone System Inhibitors and Outcomes of Hospitalized Patients With COVID-19.
Not available
S-EPMC9469914 | biostudies-literature
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