(Q37365904)

English

Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

scientific article published on April 1997

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scholarly article

1 reference

Europe PubMed Central

20 August 2017

Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism (English)

1 reference

Europe PubMed Central

20 August 2017

hyperparathyroidism

1 reference

based on heuristic

inferred from title

familial hypocalciuric hypercalcemia

1 reference

based on heuristic

inferred from title

author name string

M Bai

1

1 reference

Europe PubMed Central

20 August 2017

N Janicic

2

1 reference

Europe PubMed Central

20 August 2017

S Trivedi

3

1 reference

Europe PubMed Central

20 August 2017

S J Quinn

4

1 reference

Europe PubMed Central

20 August 2017

D E Cole

5

1 reference

Europe PubMed Central

20 August 2017

E M Brown

6

1 reference

Europe PubMed Central

20 August 2017

G N Hendy

7

1 reference

Europe PubMed Central

20 August 2017

language of work or name

0 references

publication date

1 April 1997

1 reference

Europe PubMed Central

20 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

20 August 2017

99

1 reference

Europe PubMed Central

20 August 2017

1917-1925

1 reference

Europe PubMed Central

20 August 2017

8

1 reference

Europe PubMed Central

20 August 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=508016

6 September 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=508016

6 September 2017

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=508016

6 September 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=508016

6 September 2017

Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 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=508016

6 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=508016

6 September 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=508016

6 September 2017

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 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=508016

6 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=508016

6 September 2017

Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

GCN4 protein, synthesized in vitro, binds HIS3 regulatory sequences: implications for general control of amino acid biosynthetic genes in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 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=508016

6 September 2017

RNA polymerase II is capable of pausing and prematurely terminating transcription at a precise location in vivo and in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

A human rel proto-oncogene cDNA containing an Alu fragment as a potential coding exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

Analysis of the signals for transcription termination by purified RNA polymerase II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

Extracellular Ca2+ sensing, regulation of parathyroid cell function, and role of Ca2+ and other ions as extracellular (first) messengers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

The 3' ends of alu repeats are highly polymorphic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

Model systems for the study of seven-transmembrane-segment receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

6 September 2017

The calcium-sensing receptor: a window into the physiology and pathophysiology of mineral ion metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

28 September 2017

Alu sequences in the coding regions of mRNA: a source of protein variability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

26 June 2018

Inhibition of protein glycosylation and selective cytotoxicity toward virally transformed fibroblasts caused by B3-tunicamycin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

26 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=508016

26 June 2018

1 Measurement of molecular weights by electrophoresis on SDS-acrylamide gel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

26 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=508016

26 June 2018

Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

26 June 2018

Cytosolic calcium responses of single rMTC 44-2 cells to stimulation with external calcium and potassium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508016

26 June 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=508016

2 September 2018

Termination and slippage by bacteriophage T7 RNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9109436

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/9109436

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/9109436

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/9109436

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/9109436

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/9109436

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9109436

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frameshift mutagenesis by eucaryotic DNA polymerases in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/9109436

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI119359

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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