Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Brachydaktylie Typ E2
PTHLH
Humorale paraneoplastische Hypercalciämie
PTHLH

Referenzen:

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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