Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

LIM/Homeobox-Protein Lhx3

Das LHX3-Gen kodiert einen Transkriptionsfaktor, der für die normale Entwicklung von Hypophyse und Motoneuronen verantwortlich zeichnet. Mutatonen verursachen die autosomal rezessive Erkrankung Hyophysenhormonmangel Typ 3.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hyophysenhormonmangel Typ 3
LHX3

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.

[^]

 

 
Ihre Nachricht: