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Parathormon-related Protein

Das PTHLH-Gen kodiert ein ein PTH-ähnliches Protein mit ähnlicher Funktion. Dieses protein ist insbesondere für die tumorassoziierte Hypercalciämie verantwortlich. Mutationen führen zur autosomal dominanten Brachydaktylie Typ E2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Brachydaktylie Typ E2
PTHLH
Humorale paraneoplastische Hypercalciämie
PTHLH

Referenzen:

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 Artikel

Wikipedia DE (Parathyroid_hormone-related_protein) external link
Update: 14. August 2020
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