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A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects

Date

Date

Date
2024
Journal Article
Published version

Citations

Citation copied

Küng, C. J., Daryadel, A., Fuente, R., Haykir, B., de Angelis, M. H., Hernando, N., Rubio-Aliaga, I., & Wagner, C. A. (2024). A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects. Pflügers Archiv : European Journal of Physiology, 476(5), 833–845. https://doi.org/10.1007/s00424-024-02927-y

Abstract

Abstract

Abstract

The Calcium-sensing receptor (CaSR) senses extracellular calcium, regulates parathyroid hormone (PTH) secretion, and has additional functions in various organs related to systemic and local calcium and mineral homeostasis. Familial hypocalciuric hypercalcemia type I (FHH1) is caused by heterozygous loss-of-function mutations in the CaSR gene, and is characterized by the combination of hypercalcemia, hypocalciuria, normal to elevated PTH, and facultatively hypermagnesemia and mild bone mineralization defects. To date, only heterozygous

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12 since deposited on 2024-03-01
Acq. date: 2025-11-13

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51 since deposited on 2024-03-01
Acq. date: 2025-11-13

Additional indexing

Creators (Authors)

  • Küng, Catharina J
  • Daryadel, Arezoo
  • Fuente, Rocío
  • Haykir, Betül
  • de Angelis, Martin Hrabě
  • Hernando, Nati
  • Rubio-Aliaga, Isabel
  • Wagner, Carsten A

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
476

Number

Number

Number
5

Page range/Item number

Page range/Item number

Page range/Item number
833

Page end

Page end

Page end
845

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Keywords

Physiology (medical), Clinical Biochemistry, Physiology

Language

Language

Language
English

Publication date

Publication date

Publication date
2024-05-01

Date available

Date available

Date available
2024-03-01

Publisher

Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
0031-6768

OA Status

OA Status

OA Status
Hybrid

PubMed ID

PubMed ID

PubMed ID

Metrics

Downloads

12 since deposited on 2024-03-01
Acq. date: 2025-11-13

Views

51 since deposited on 2024-03-01
Acq. date: 2025-11-13

Citations

Citation copied

Küng, C. J., Daryadel, A., Fuente, R., Haykir, B., de Angelis, M. H., Hernando, N., Rubio-Aliaga, I., & Wagner, C. A. (2024). A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects. Pflügers Archiv : European Journal of Physiology, 476(5), 833–845. https://doi.org/10.1007/s00424-024-02927-y

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