LIM/homeobox protein Lhx3
The LHX3 gene encodes a transcription factor that is required for pituitary development. Mutations in this gene cause autosomal recessive combined pituitary hormone deficiency 3.
Genetests:
Related Diseases:
References:
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Freyd G et al. (1990) Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11.
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Rajab A et al. (2008) Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
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Pfaeffle RW et al. (2007) Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
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Bhangoo AP et al. (2006) Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.
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Lee SK et al. (2003) Synchronization of neurogenesis and motor neuron specification by direct coupling of bHLH and homeodomain transcription factors.
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Thaler JP et al. (2002) LIM factor Lhx3 contributes to the specification of motor neuron and interneuron identity through cell-type-specific protein-protein interactions.
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Sharma K et al. (2000) Genetic and epigenetic mechanisms contribute to motor neuron pathfinding.
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Netchine I et al. (2000) Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
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Sloop KW et al. (2000) Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9.
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Sloop KW et al. (1999) Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties.
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Sharma K et al. (1998) LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.
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Sheng HZ et al. (1996) Specification of pituitary cell lineages by the LIM homeobox gene Lhx3.
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Mbikay M et al. (1995) Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2.
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Zhadanov AB et al. (1995) Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3.
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Zhadanov AB et al. (1995) Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues.
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Tsuchida T et al. (1994) Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.
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Way JC et al. (1988) mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans.
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Sloop KW et al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.
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Orphanet article
Orphanet ID 123053
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NCBI article
NCBI 8022
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OMIM.ORG article
Omim 600577
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Wikipedia article
Wikipedia EN (LHX3)
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Update: Aug. 14, 2020