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

Related Diseases:

Brachydactyly type E2
PTHLH
Humoral hypercalcemia of malignancy
PTHLH

References:

1.

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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2.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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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18.

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

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19.

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

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20.

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

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21.

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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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

OMIM.ORG article

Omim 168470 external link
28.

Orphanet article

Orphanet ID 227063 external link
29.

NCBI article

NCBI 5744 external link
30.

Wikipedia article

Wikipedia EN (Parathyroid_hormone-related_protein) external link
Update: Aug. 14, 2020
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