Parathyroid hormone-related protein
The PTHLH gene encodes a protein similar to PTH that binds to the same receptor. This protein is responsible for tumor associated hypercalcemia. Mutations cause autosomal dominant brachydactyly type 2E.
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Related Diseases:
References:
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Maass PG et al. (2010) A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
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Kir S et al. (2014) Tumour-derived PTH-related protein triggers adipose tissue browning and cancer cachexia.
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None (2003) 10 years of mouse cancer modifier loci: human relevance.
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Hsiao LT et al. (2002) Superior vena cava syndrome and hypercalcaemia in a patient with a primary mediastinal B-cell lymphoma secreting parathyroid hormone-related protein.
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Bakre MM et al. (2002) Parathyroid hormone-related peptide is a naturally occurring, protein kinase A-dependent angiogenesis inhibitor.
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Miao D et al. (2002) Parathyroid hormone is essential for normal fetal bone formation.
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Manenti G et al. (2000) A cancer modifier role for parathyroid hormone-related protein.
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None (2000) The physiology of parathyroid hormone-related protein.
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Lanske B et al. (1999) Ablation of the PTHrP gene or the PTH/PTHrP receptor gene leads to distinct abnormalities in bone development.
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Philbrick WM et al. (1998) Parathyroid hormone-related protein is required for tooth eruption.
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Wysolmerski JJ et al. (1998) Rescue of the parathyroid hormone-related protein knockout mouse demonstrates that parathyroid hormone-related protein is essential for mammary gland development.
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Henry JG et al. (1997) Parathyroid hormone-related protein-(1-36) is biologically active when administered subcutaneously to humans.
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Vortkamp A et al. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.
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Holick MF et al. (1994) A parathyroid hormone antagonist stimulates epidermal proliferation and hair growth in mice.
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Lanske B et al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.
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Klopocki E et al. (2010) Deletion and point mutations of PTHLH cause brachydactyly type E.
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Wysolmerski JJ et al. (2001) Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction.
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Hendy GN et al. (1990) Gene for parathyroid hormone-like peptide is on mouse chromosome 6.
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Hammonds RG et al. (1989) Purification and characterization of recombinant human parathyroid hormone-related protein.
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Yasuda T et al. (1989) Characterization of the human parathyroid hormone-like peptide gene. Functional and evolutionary aspects.
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Mangin M et al. (1988) Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy.
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Moseley JM et al. (1987) Parathyroid hormone-related protein purified from a human lung cancer cell line.
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Mangin M et al. (1989) Isolation and characterization of the human parathyroid hormone-like peptide gene.
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Broadus AE et al. (1988) Humoral hypercalcemia of cancer. Identification of a novel parathyroid hormone-like peptide.
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Suva LJ et al. (1987) A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression.
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Karaplis AC et al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene.
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OMIM.ORG article
Omim 168470
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Orphanet article
Orphanet ID 227063
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NCBI article
NCBI 5744
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Wikipedia article
Wikipedia EN (Parathyroid_hormone-related_protein)
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Update: Aug. 14, 2020