Hyophysenhormonmangel Typ 3
Der kombinierter Hypophysenhormonmangel mit verteifter Halswirbelsäule ist eine autosomal rezessive Erkrankung die durch Mutationen im LHX3-Gen hervorgerufen wird. Neben dem Mangel an fast allen Hypophysenhormonen fällt bei den Patienten eine Versteifung der Halswirbelsäule und eine Innenohrschwerhörigkeit auf.
Gliederung
Kombinierter Hypophysenhormon-Mangel
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Hyophysenhormonmangel Typ 1
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Hyophysenhormonmangel Typ 2
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Hyophysenhormonmangel Typ 3
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LHX3
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Hyophysenhormonmangel Typ 4
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Hyophysenhormonmangel Typ 5
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Referenzen:
| 1. |
Freyd G et. al. (1990) Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11. [^] |
| 2. |
Way JC et. al. (1988) mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans. [^] |
| 3. |
Tsuchida T et. al. (1994) Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes. [^] |
| 4. |
Zhadanov AB et. al. (1995) Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues. [^] |
| 5. |
Zhadanov AB et. al. (1995) Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3. [^] |
| 6. |
Mbikay M et. al. (1995) Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2. [^] |
| 7. |
Sheng HZ et. al. (1996) Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. [^] |
| 8. |
Sharma K et. al. (1998) LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons. [^] |
| 9. |
Sloop KW et. al. (1999) Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties. [^] |
| 10. |
Sloop KW et. al. (2000) Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9. [^] |
| 11. |
Netchine I et. al. (2000) Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. [^] |
| 12. |
Sloop KW et. al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia. [^] |
| 13. |
Sharma K et. al. (2000) Genetic and epigenetic mechanisms contribute to motor neuron pathfinding. [^] |
| 14. |
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. [^] |
| 15. |
Lee SK et. al. (2003) Synchronization of neurogenesis and motor neuron specification by direct coupling of bHLH and homeodomain transcription factors. [^] |
| 16. |
Bhangoo AP et. al. (2006) Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. [^] |
| 17. |
Pfaeffle RW et. al. (2007) Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. [^] |
| 18. |
Rajab A et. al. (2008) Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. [^] |
