Sort   by:  
 Page size 
TranscriptomicsLoss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
Hereditary sensory and autonomic neuropathy type I (HSAN-I) is neurological disorder characterized by distal sensory neuron dysfunction, frequent infections, and ulcerative mutilations. It remains unknown if HSAN-I directly dampens protective immunity. Here we report that HSAN-I-causing mutations of...
ORGANISM(S): Mus musculus 
2019-04-02 | GSE112715 | GEO
UnknownHuman TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.
Not available
S-EPMC10077510 | biostudies-literature
GenomicsLoss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
PRJNA448776 | ENA
UnknownNovel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.
Not available
S-EPMC5447400 | biostudies-literature
UnknownA Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Not available
S-EPMC5299464 | biostudies-literature
UnknownLoss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8<sup>+</sup> T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
Not available
S-EPMC6531359 | biostudies-literature
UnknownFrequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Not available
S-EPMC3752368 | biostudies-literature
UnknownMutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Not available
S-EPMC2948807 | biostudies-literature
UnknownRelationship between proprioception at the knee joint and gait ataxia in HSAN III.
Not available
S-EPMC3694996 | biostudies-literature
TranscriptomicsGenotyping by array of genomic variation in seven Khoe-San groups to reveal adaptation and complex African history
The history of click-speaking Khoe-San, and African populations in general, remains poorly understood. We genotyped ~2.3 million SNPs in 220 southern Africans and found that the Khoe-San diverged from other populations at least 100,000 years ago, but structure within the Khoe-San dated back to about...
ORGANISM(S): Homo sapiens 
2012-09-22 | E-MTAB-1259 | biostudies-arrayexpress
Sort   by:  
 Page size