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Mutations in NALP12 cause hereditary periodic fever syndromes
TLDR
The identification of these first NALP12 mutations in patients with autoinflammatory disorder clearly demonstrates the crucial role of NalP12 in inflammatory signaling pathways, thereby assigning a precise function to this particular member of an emerging family of proteins whose putative biological properties are currently inferred essentially through in vitro means. Expand
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
TLDR
This disease provides evidence that a guard-like mechanism of pyrin regulation, originally identified for Nod-like receptors in plant innate immunity, also exists in humans, which guards against autoinflammation in humans. Expand
Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution
TLDR
A retrovirus-mediated alternative splice mimicry, which clears up several as yet unexplained phenomena, represents a novel physiological mechanism accounting for protein diversity between and within species. Expand
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
TLDR
Data reveal the critical role of DNAI1 in the development of human axonemal structures and open up new means for identification of additional genes involved in related developmental defects. Expand
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.
TLDR
This mutation, which results in decreased cell-surface expression of the receptor, selectively impairs the constitutive activity of the GHSR, while preserving its ability to respond to ghrelin. Expand
Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.
TLDR
The hypothesis that GHBP may at least partly result from alternative splicing of the region encoding the intracellular domain and that the absence of a cytoplasmic domain may be involved in increased release of GHBP is supported. Expand
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
TLDR
The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families. Expand
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
TLDR
A homozygous LHX3 defect is identified in patients of two unrelated consanguineous families displaying a complete deficit in all but one anterior pituitary hormone and a rigid cervical spine leading to limited head rotation. Expand
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
TLDR
It is found that loss-of-function mutations in the human ortholog underlie a substantial fraction of PCD cases with axonemal disorganization and abnormal ciliary beating. Expand
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
TLDR
The evolutionarily conserved LRRC6 emerges as an additional player in DA assembly, a process that is essential for proper axoneme building and that appears to be much more complex than was previously thought. Expand
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