Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Brachydactyly type E2
PTHLH
Humoral hypercalcemia of malignancy
PTHLH

References:

1.

Lanske B et. al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.

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2.

Hendy GN et. al. (1990) Gene for parathyroid hormone-like peptide is on mouse chromosome 6.

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3.

Hammonds RG et. al. (1989) Purification and characterization of recombinant human parathyroid hormone-related protein.

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4.

Yasuda T et. al. (1989) Characterization of the human parathyroid hormone-like peptide gene. Functional and evolutionary aspects.

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5.

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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6.

Moseley JM et. al. (1987) Parathyroid hormone-related protein purified from a human lung cancer cell line.

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7.

Mangin M et. al. (1989) Isolation and characterization of the human parathyroid hormone-like peptide gene.

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8.

Broadus AE et. al. (1988) Humoral hypercalcemia of cancer. Identification of a novel parathyroid hormone-like peptide.

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9.

Suva LJ et. al. (1987) A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression.

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10.

Holick MF et. al. (1994) A parathyroid hormone antagonist stimulates epidermal proliferation and hair growth in mice.

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11.

Karaplis AC et. al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene.

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12.

Vortkamp A et. al. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.

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13.

Henry JG et. al. (1997) Parathyroid hormone-related protein-(1-36) is biologically active when administered subcutaneously to humans.

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14.

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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15.

Philbrick WM et. al. (1998) Parathyroid hormone-related protein is required for tooth eruption.

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16.

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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17.

None (2000) The physiology of parathyroid hormone-related protein.

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18.

Manenti G et. al. (2000) A cancer modifier role for parathyroid hormone-related protein.

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19.

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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20.

Miao D et. al. (2002) Parathyroid hormone is essential for normal fetal bone formation.

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21.

Bakre MM et. al. (2002) Parathyroid hormone-related peptide is a naturally occurring, protein kinase A-dependent angiogenesis inhibitor.

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22.

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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23.

None (2003) 10 years of mouse cancer modifier loci: human relevance.

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24.

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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25.

Klopocki E et. al. (2010) Deletion and point mutations of PTHLH cause brachydactyly type E.

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26.

Kir S et. al. (2014) Tumour-derived PTH-related protein triggers adipose tissue browning and cancer cachexia.

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Update: Sept. 26, 2018