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Identification and Partial Characterization of the Nonribosomal Peptide Synthetase Gene Responsible for Cereulide Production in Emetic Bacillus cereus
ABSTRACT Cereulide, a depsipeptide structurally related to valinomycin, is responsible for the emetic type of gastrointestinal disease caused by Bacillus cereus. Due to its chemical structure,…
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Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
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Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
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Novel CENPJ mutation causes Seckel syndrome
TLDR
This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD.
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Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
TLDR
It is confirmed that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FK BP10 mutations.
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
TLDR
It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
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Emetic toxin-producing strains of Bacillus cereus show distinct characteristics within the Bacillus cereus group.
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Genomic analysis of primordial dwarfism reveals novel disease genes.
TLDR
A number of novel genes are added to the growing list of PD-linked genes, including one which is shown to be linked to a novel PD syndrome with a distinct facial appearance, and the knockout mouse phenotype is highly compatible with PD.
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Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
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