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hypoparathyroidism
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PTH
Ectopic transcription of the parathyroid hormone gene in lymphocytes, lymphoblastoid cells and tumour tissue
Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies
Structure-activity relation of NH2-terminal human parathyroid hormone fragments
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
Hypercalcemia and ectopic secretion of parathyroid hormone by an ovarian carcinoma with rearrangement of the gene for parathyroid hormone
GATA3
Structure and expression of the human GATA3 gene
Transcriptional activity of TAL1 in T cell acute lymphoblastic leukemia (T-ALL) requires RBTN1 or -2 and induces TALLA1, a highly specific tumor marker of T-ALL
TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3
Combining SSH and cDNA microarrays for rapid identification of differentially expressed genes
Regulation of the human interleukin-5 promoter by Ets transcription factors. Ets1 and Ets2, but not Elf-1, cooperate with GATA3 and HTLV-I Tax1
TBCE
Pathway leading to correctly folded beta-tubulin
GNAS
Gs(alpha) mutations and imprinting defects in human disease
STX16
Early/recycling endosomes-to-TGN transport involves two SNARE complexes and a Rab6 isoform
Pathways
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Cancer Gene Census
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GATA3
Somatic tumors
breast
Tumor types germline
Cancer Syndrom
Translocation partner
Name
GATA binding protein 3
Chromosome banding
10p15
Cancer molecular gen.
Rec
Mutation type
F, N, S
Other syndrome disease
HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal disease)
Clinical Trials
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External
A Registry for Patients With Chronic Hypoparathyroidism (PARADIGHM)
Definition
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