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UnknownPhenotype and course of Hutchinson-Gilford progeria syndrome.

Background

Hutchinson-Gilford progeria syndrome is a rare, sporadic, autosomal dominant syndrome that involves premature aging, generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. The genetic basis of most cases of this syndrome is a change fro...
S-EPMC2940940 | biostudies-literature
TranscriptomicsRecapitulation of human premature aging by using iPSCs from Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human premature aging disease1-5, characterized by premature atherosclerosis and degeneration of vascular smooth muscle cells (SMCs)6-8. HGPS is caused by a single-point mutation in the LMNA gene, resulting in the generation of progerin...
ORGANISM(S): Homo sapiens 
2011-03-14 | E-GEOD-24487 | biostudies-arrayexpress
UnknownRecapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human premature ageing disease, characterized by premature arteriosclerosis and degeneration of vascular smooth muscle cells (SMCs). HGPS is caused by a single point mutation in the lamin A (LMNA) gene, resulting in the generation of pr...
S-EPMC3088088 | biostudies-literature
UnknownDNA replication timing alterations identify common markers between distinct progeroid diseases.
Progeroid syndromes are rare genetic disorders that phenotypically resemble natural aging. Different causal mutations have been identified, but no molecular alterations have been identified that are in common to these diseases. DNA replication timing (RT) is a robust cell type-specific epigenetic fe...
S-EPMC5754778 | biostudies-literature
UnknownCommon variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two replication stages (stages 2 and 3). Both joint analysis and meta-analysis approaches were used. We ...
S-EPMC3090745 | biostudies-literature
UnknownElevation of cervical C-X-C motif chemokine ligand 10 levels is associated with HIV-1 acquisition in pregnant and postpartum women.

Objective

To evaluate the relationship between cervical cytokine/chemokine concentrations and HIV-1 acquisition in peripartum Kenyan women.

Design

Nested case-control study.

Methods

Women participating in a prospective study of peripartum HIV acquisition in Kenya (the Mama Sala...
S-EPMC7964249 | biostudies-literature
UnknownAntigen-Specific T Cell Receptor Discovery for Treating Progressive Multifocal Leukoencephalopathy.

Background

Progressive multifocal leukoencephalopathy (PML) is a frequently fatal disease of the central nervous system caused by JC virus (JCV). Survival is dependent on early diagnosis and ability to re-establish anti-viral T cell immunity. Adoptive transfer of polyomavirus-specific T cell...
S-EPMC11580961 | biostudies-literature
UnknownCD38 in Advanced Prostate Cancers.

Background

CD38, a druggable ectoenzyme, is involved in the generation of adenosine, which is implicated in tumour immune evasion. Its expression and role in prostate tumour-infiltrating immune cells (TIICs) have not been elucidated.

Objective

To characterise CD38 expression on prosta...
S-EPMC8175332 | biostudies-literature
UnknownStructural basis for NKG2A/CD94 recognition of HLA-E.
The NKG2x/CD94 (x = A, C, E) natural killer-cell receptors perform an important role in immunosurveillance by binding to HLA-E complexes that exclusively present peptides derived from MHC class I leader sequences, thereby monitoring MHC class I expression. We have determined the crystal structure of...
S-EPMC2373352 | biostudies-literature
UnknownFeatures of Recently Transmitted HIV-1 Clade C Viruses that Impact Antibody Recognition: Implications for Active and Passive Immunization.
The development of biomedical interventions to reduce acquisition of HIV-1 infection remains a global priority, however their potential effectiveness is challenged by very high HIV-1 envelope diversity. Two large prophylactic trials in high incidence, clade C epidemic regions in southern Africa are ...
S-EPMC4951126 | biostudies-literature
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