Sort   by:  
 Page size 
UnknownMesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.
Not available
S-EPMC2896765 | biostudies-literature
GenomicsHistone Reader BRWD1 Targets and Restricts Recombination to the Igk Locus
B lymphopoiesis requires that immunoglobulin genes be accessible to RAG1-RAG2 recombinase. However, the RAG proteins bind widely to open chromatin, which suggests that additional mechanisms must restrict RAG-mediated DNA cleavage. Here we show that developmental downregulation of interleukin 7 (IL-7...
ORGANISM(S): Mus musculus 
2015-08-24 | E-GEOD-63302 | biostudies-arrayexpress
TranscriptomicsInduction of a peptide with activity against a broad spectrum of pathogens in the Aedes aegypti salivary gland, following infection with dengue virus
Dengue viruses (DENV) are generally maintained in a cycle which requires horizontal transmission via their arthropod vector, Ae. Aegypti, to the vertebrate host. One important consequence of this process is the interference of these arboviruses with both invertebrate and vertebrate immune systems. W...
ORGANISM(S): Aedes aegypti 
2011-03-21 | E-GEOD-21528 | biostudies-arrayexpress
UnknownFunctional outcomes following surgery for spastic hip adductor muscles in ambulatory and non-ambulatory adults.
Not available
S-EPMC10985928 | biostudies-literature
UnknownDeep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.
Not available
S-EPMC12542321 | biostudies-literature
UnknownNeuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Not available
S-EPMC4306821 | biostudies-literature
UnknownMutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Not available
S-EPMC3853004 | biostudies-literature
TranscriptomicsHomozygous BUB1B mutation and susceptibility to multi-site gastrointestinal neoplasia
We investigated the cause of gastrointestinal neoplasia in a man who developed adenocarcinoma of the ampulla of Vater at the age of 34, followed almost three decades later by adenomatous polyps and invasive adenocarcinomas of both the colon and stomach. Premature chromatid separation, mosaic variega...
ORGANISM(S): Homo sapiens 
2010-06-16 | E-GEOD-22206 | biostudies-arrayexpress
UnknownExpanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Not available
S-EPMC4608180 | biostudies-literature
UnknownData sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Not available
S-EPMC8523590 | biostudies-literature
Sort   by:  
 Page size