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GenomicsWhole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS).
The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome seq...
EGAS00001002193 | EGA
Genomicsena-DATASET-BAMS-05-01-2017-02:07:22:122-13 - samples
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
EGAD00001003130 | EGA
TranscriptomicsThe Enzyme-Like Domain of Arabidopsis Nuclear Beta-Amylases is Critical During DNA Sequence Recognition and Transcriptional Activation
Plant BZR1-BAM transcription factors contain a M-NM-2-amylase (BAM)-like domain, characteristic of proteins involved in starch breakdown. The enzyme-derived domains appear to be non-catalytic, but determine the function of the Arabidopsis thaliana BZR1-BAMs (BAM7 and BAM8) during transcriptional ini...
ORGANISM(S): Arabidopsis thaliana 
2014-06-10 | E-GEOD-58370 | biostudies-arrayexpress
TranscriptomicsOverexpression of PLIN5 in skeletal muscle promotes oxidative gene expression and intramyocellular lipid content without compromising insulin sensitivity
Aims/hypothesis: While lipid deposition in skeletal muscle is considered to be involved in obesity-associated insulin resistance, neutral intramyocellular lipid (IMCL) accumulation per se does not necessarily induce insulin resistance. We previously demonstrated that overexpression of the lipid drop...
ORGANISM(S): Rattus norvegicus 
2013-01-29 | E-GEOD-43832 | biostudies-arrayexpress
UnknownIn skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Not available
S-EPMC10415154 | biostudies-literature
UnknownSMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Not available
S-EPMC6800092 | biostudies-literature
UnknownRare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.
Not available
S-EPMC7335161 | biostudies-literature
UnknownClinical characteristics, multiorgan dysfunction and outcomes of patients with COVID-19: a prospective case series.
Not available
S-EPMC9312996 | biostudies-literature
UnknownStage migration of testicular germ cell tumours in Alberta, Canada, during the COVID-19 pandemic: a retrospective cohort study.
Not available
S-EPMC9262347 | biostudies-literature
UnknownSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Not available
S-EPMC5473428 | biostudies-literature
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