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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 

Your search matched a total of 47 documents. Results 1 - 10.

Homo sapiens
Gene: ... Phox2b is essential for the development of autonomic neural crest derivatives. Here we show that all...Disease relevance of PHOX2B Finally, PHOX2B proteins carrying mutations responsible for CCHS... suggested that PHOX2B is able to bind the cell- specific element in the 5' regulatory region of the TLX2... / Synonyms: PHOX2B homeodomain protein; Phox2b
Mus musculus
Gene: ... make Phox2b a master regulator of all central and peripheral noradrenergic differentiation. Here, we...Disease relevance of Phox2b Constriction of the pupil is a parasympathetic response mediated by the ciliary ganglion and we find that in Phox2b heterozygous mutants it is highly atrophic. Haploinsufficiency... / Synonyms: PHOX2B homeodomain protein
Gallus gallus
Gene: ... Disease relevance of PHOX2B The expression of Mash1( Cash1 ), Phox2b and Phox2a in the chick... marker genes. High impact information on PHOX2B We further show that both the PH and P/ M sites are essential for Hox- Pbx- Prep ternary complex formation and regulation of the Phox2b enhancer activity...
Rattus norvegicus
Gene: ... High impact information on Phox2b_ predicted We have studied the expression of the homeodomain transcriptional neuronal regulators Phox2a, Phox2b and the non- neuronal Schwann cell response using the marker S... retinoic acid( RA) treatment of pregnant dams. Anatomical context of Phox2b_ predicted These results...
MeSH term: ... . The paralogous paired- like homeobox genes Phox2a and Phox2b are involved in the development of specific neural... in the peripheral nervous system and that some but not all of these receptors are CCKA receptors. Our results...
MeSH term: ... or antigen and are unable to derepress the synthesis of the enzyme. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation... inhibitors. Here we report that although all nonsense and frameshift mutations that cause premature...
MeSH term: ... autonomic nervous system development, we have tested the transcriptional activity of WT and mutant PHOX2B.../ or autonomic nervous system discharge. Gene context of Autonomic Nervous System Phox2b is necessary... amyloid polyneuropathy but is unique in that the age of onset is in the seventh decade in all family...
MeSH term: ... shown that heterozygous mutations of PHOX2B may account for several combined or isolated disorders... that hydralazine does not produce uniform vasodilation in all organs and that the cardiovascular actions...
MeSH term: ... ). Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. We also show that Phox2b heterozygous mutants have... syndrome, which is associated with heterozygous mutations in PHOX2B. It appears that small to moderate...
MeSH term: ... Syndromes CONCLUSION: Although their respiratory phenotype was much less severe than CCHS, the Phox2b... of the transcription factor Phox2b would display sleep- disordered breathing. Clinical conditions altering IL- 1 or TNF... basis for sleep- disordered breathing after nicotine exposure. RESULTS: All 10 patients had sleep apnea...

 

 
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