(Q28379431)

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In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial [...]

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9011580%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia (English)

1 reference

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31 October 2019

hyperparathyroidism

1 reference

based on heuristic

inferred from title

secondary hyperparathyroidism

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

2

1 reference

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31 October 2019

author name string

M Bai

1

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31 October 2019

O Kifor

3

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31 October 2019

S Trivedi

4

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31 October 2019

U G Stauffer

5

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31 October 2019

R V Thakker

6

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31 October 2019

E M Brown

7

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31 October 2019

B Steinmann

8

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31 October 2019

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1 January 1997

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31 October 2019

Journal of Clinical Investigation

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31 October 2019

99

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31 October 2019

1

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31 October 2019

88-96

1 reference

Europe PubMed Central

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31 October 2019

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

20 March 2017

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

20 March 2017

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

20 March 2017

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

20 March 2017

The 1993-94 Généthon human genetic linkage map

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

23 March 2017

Rapid and efficient site-specific mutagenesis without phenotypic selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

20 March 2017

Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

7 April 2017

Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

7 April 2017

Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

7 April 2017

Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

7 April 2017

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Calcium-ion-sensing cell-surface receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Regulation of parathyroid hormone release and cytosolic calcium by extracellular calcium in dispersed and cultured bovine and pathological human parathyroid cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Severe primary hyperparathyroidism in a neonate having a parent with hypercalcemia: treatment by total parathyroidectomy and simultaneous heterotopic autotransplantation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Primary Neonatal Hyperparathyroidism: Report of a Case and Review of the Literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

29 September 2017

Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

2 June 2018

Hereditary parathyroid hyperplasia: a surgical emergency of early infancy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

2 June 2018

Familial benign hypercalcemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

2 June 2018

Hereditary Neonatal Hyperparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

2 June 2018

PRIMARY HYPERPARATHYROIDISM IN AN INFANT; REPORT OF A CASE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

27 November 2018

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

27 November 2018

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507771

27 November 2018

Neonatal primary hyperparathyroidism masked by vitamin D deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cloned Ca(2+)-sensing receptor: a mediator of direct effects of extracellular Ca2+ on renal function?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parathyroid hyperplasia in an infant

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calcium-dependent release of N-terminal fragments and intact immunoreactive parathyroid hormone by human pathological parathyroid tissue in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of high extracellular calcium concentrations on phosphoinositide turnover and inositol phosphate metabolism in dispersed bovine parathyroid cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calcium infusion suggests a "set-point" abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary neonatal hyperparathyroidism--an unusual cause of failure to thrive

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal primary hyperparathyroidism with autosomal dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal calcium-regulated PTH release in normal parathyroid tissue from patients with adenoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal regulation of parathyroid hormone release by calcium in secondary hyperparathyroidism due to chronic renal failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Post-parathyroidectomy restoration of normal calcium homeostasis in neonatal primary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered parathyroid set point to calcium in familial hypocalciuric hypercalcaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypocalciuric hypercalcaemia: association with neonatal primary hyperparathyroidism, and possible linkage with HLA haplotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypocalciuric hypercalcaemia: evidence for continued enhanced renal tubular reabsorption of calcium following total parathyroidectomy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal hyperparathyroidism: the natural course in the absence of surgical intervention

1 reference

https://pubmed.ncbi.nlm.nih.gov/9011580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI119137

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9011580%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9011580%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9011580%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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