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TranscriptomicsMating response of three yeast species (S. cerevisiae, S. paradoxus and S. mikatae)
We examined the mating response of three yeast species, by subjecting a-type cells from each of them to alpha-factor (6uM). The expression of cells before and after (60min) addition of alpha-factor were compared using S. cerevisiae cDNA microarrays. In addition, we verified our results with a true m...
ORGANISM(S): Saccharomyces paradoxus 
2010-06-11 | E-GEOD-7525 | biostudies-arrayexpress
UnknownA balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Not available
S-EPMC3621145 | biostudies-literature
TranscriptomicsArray CGH in congenital heart disease
Congenital heart disease (CHD) is the most frequent birth defect and affects nearly 1% of newborns. The etiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal...
ORGANISM(S): Homo sapiens 
2008-05-11 | E-GEOD-7527 | biostudies-arrayexpress
ProteomicsBi-allelic variants of FILIP1 cause a congenital syndrome defined by facial dysmorphisms and a broad range of neurological manifestations
Filamin-A-interacting protein 1 (FILIP1) is a structural protein known to take on roles in neuronal and muscle function and integrity and to interact in addition to filamin-A with filamin-C. For both proteins pathogenic variants in the corresponding genes were linked to neurological symptoms and dys...
ORGANISM(S): Homo sapiens (Human) 
2024-05-23 | PXD036407 | Pride
Vacuolar myopathy Protein aggregate myopathy Flnc Flna Mfm/ myofibrillar myopathy 
UnknownBi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Not available
S-EPMC10545528 | biostudies-literature
UnknownNext generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Not available
S-EPMC3039499 | biostudies-literature
UnknownMarfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation.
Not available
S-EPMC8618173 | biostudies-literature
UnknownX-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Not available
S-EPMC4015352 | biostudies-literature
UnknownThe Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Not available
S-EPMC8535571 | biostudies-literature
UnknownMirror-image asymmetry in monozygotic twins with kabuki syndrome.
Not available
S-EPMC3542933 | biostudies-literature
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