Reactome | Muenke, M

Schema > Person > Entries

created	[InstanceEdit:3301358] Jupe, S, 2013-04-22
dbId	3301357
displayName	Muenke, M
firstname	Maximilian
initial	M
modified	[InstanceEdit:3301915] Jupe, S, 2013-04-23
publications	[LiteratureReference:5358454] The molecular genetics of holoprosencephaly [LiteratureReference:3301344] Review: Genetics of attention deficit/hyperactivity disorder [LiteratureReference:5629124] Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors [LiteratureReference:8865398] Cbfbeta interacts with Runx2 and has a critical role in bone development [LiteratureReference:5629121] Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH [LiteratureReference:5358247] The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
schemaClass	Person
surname	Muenke

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