Ena-DATASET-Genentech-08-05-2014-19:07:37:560-28 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000843 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Description not provided
| EGAD00001000844 | EGA
Project description:Bullous pemphigoid (BP) is the most common autoimmune skin blistering disease characterized by autoimmunity against the hemidesmosomal proteins BP180, type XVII collagen, and BP230. To elucidate the genetic basis of susceptibility to BP, we performed the first genome-wide association study (GWAS) in Germans. This GWAS was combined with HLA locus targeted sequencing in an additional independent BP cohort. The strongest association with BP in Germans tested in this study was observed in the two HLA loci, HLA-DQA1*05:05 and HLA-DRB1*07:01. Further studies with increased sample sizes and complex studies integrating multiple pathogenic drivers will be conducted.
| S-EPMC8136166 | biostudies-literature
Project description: Not available
| S-EPMC4261147 | biostudies-literature
Project description:Multicentric reticulohistiocytosis (MRH) is a rare cause of destructive inflammatory arthritis involving both small, as well as larger joints. We report the case of a 40-year-old Caucasian female with a family history of neoplasia who was referred to our service witha two-month history of inflammatory joint pain. On examination, the patient had inflammatory arthritis, mainly involving the peripheral joints, sacroiliac joint pain, and numerous papulonodular mucocutaneous lesions, including periungual "coral beads". Imaging tests revealed erosive arthritis with synovitis and tenosynovitis, sacroiliac joint changes, as well as papulonodular mucosal lesions in the nasal vestibule, the oropharyngeal mucosa, and supraglottic larynx. She tested positive for HLA-B*07 (Human Leukocyte Antigen B*07) and HLA-B*08, ANA (antinuclear antibodies), RF (rheumatoid factor), anti-Ro52, anti-SSA/Ro, and anti-SSB/La antibodies. The skin biopsy was suggestive of MRH, showing a histiocyte infiltrate and frequent giant multinucleated cells. The patient exhibited favorable outcomes under Methotrexate, then Leflunomide. However, she displayed worsening clinical symptoms while under Azathioprine. To our knowledge, this is the first case of MRH to exhibit positive HLA-B*07 together with HLA-B*08. The rarity of MRH, its unknown etiology and polymorphic clinical presentation, as well as its potential neoplastic/paraneoplastic, and autoimmune nature demand extensive investigation.
| S-EPMC7560105 | biostudies-literature
Project description: Not available
| S-EPMC8461569 | biostudies-literature
Project description:Description not provided
| EGAD00001000711 | EGA
Project description:chemical recovery date is 07 28 2020, done by zongyuan Liu
2020-08-26 | MSV000086022 | MassIVE
Project description:BackgroundPrevious studies have indicated that snacking is contributing to increased calorie intake of American children and that the energy density of snacks in US diets has increased in recent decades.ObjectiveExamine short-term and long-term trends in the energy density and food sources of snacks for US children from 1977 to 2014, and examine whether trends differ between socio-demographic groups.MethodsWe used data collected from eight nationally representative surveys of food intake in 49,952 US children age 2-18 years, between 1977 and 2014. Overall patterns of snacking, trends in energy intake from snacking, trends in food and beverage sources and energy density of snacks across race-ethnic, age, gender, education and income groups were examined.ResultsIn all socio-demographic groups, there was a significant increase in per capita energy intake deriving from snacks from 1977 to 2014 (P < 0.01). Salty snack intake doubled over the study period, and sugar-sweetened beverage intake decreased overall from 1977 to 2014 but increased in Non-Hispanic Blacks. Non-Hispanic Blacks had the largest increase in per capita intake from foods as a snack from 1977 to 2014. Children in the lowest poverty level and household education groups had more than 100% increase in calorie intake from snacks from 1977 to 2014.ConclusionsWe found that snacking behaviour in the USA differs between race-ethnic, household education, gender and income groups, yet snacking remains a significant component of children's diets and the foods consumed at these snacks are not the types of foods recommended by the US dietary guidelines.
| S-EPMC5685944 | biostudies-literature
Project description:HLA-C expresion varies widely across the different HLA-C alleles. MicroRNA binding can partly explain the differences in HLA-C allele expression however other contributing factors still remain undetermined. Here we use two common HLA-C alleles, HLA-C*05:01 and HLA-C*07:02, to explore differences in expression levels. Using functional, structural and peptide repertoire comparisons we demonstrate that HLA-C expression levels are not only modulated at the RNA level but also at the protein level. This dataset contains RAW data and database search results for HLA-C*05:01 and HLA-C*07:02 from the 721.221 cell line.
2017-07-03 | PXD006455 | Pride
Project description:Campylobacter coli 37/05 genome sequencing
| PRJNA52739 | ENA