Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. (Q36911479)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963954%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism (English)

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10 March 2020

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6

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10 March 2020

5

Hakon Hakonarson

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10 March 2020

author name string

Dong Li

1

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10 March 2020

Lifeng Tian

2

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10 March 2020

Cuiping Hou

3

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10 March 2020

Cecilia E Kim

4

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10 March 2020

language of work or name

English

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publication date

10 March 2016

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The Journal of Clinical Endocrinology and Metabolism

10 March 2020

published in

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10 March 2020

volume

101

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10 March 2020

page(s)

2196-2200

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10 March 2020

issue

5

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Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review

10 March 2020

cites work

1 reference

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Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia

29 September 2017

1 reference

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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

29 September 2017

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A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia

29 September 2017

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

29 September 2017

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Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

29 September 2017

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The calcium-sensing receptor: physiology, pathophysiology and CaR-based therapeutics

29 September 2017

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Clinical lessons from the calcium-sensing receptor

29 September 2017

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Potassium handling in health and disease: lessons from inherited tubulopathies.

29 September 2017

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Calcium as an extracellular signalling molecule: perspectives on the Calcium Sensing Receptor in the brain

29 September 2017

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Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review

29 September 2017

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Diseases associated with the extracellular calcium-sensing receptor

29 September 2017

1 reference

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Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

29 September 2017

1 reference

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Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders

29 September 2017

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Bartter's syndrome, nephrocalcinosis and renal insufficiency

29 September 2017

1 reference

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Prostaglandin E2Stimulation of Adenosine 3′,5′-Monophosphate Accumulation and Parathyroid Hormone Release in Dispersed Bovine Parathyroid Cells*

29 September 2017

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Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

29 September 2017

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Adaptor protein-2 interaction with arrestin regulates GPCR recycling and apoptosis

27 June 2018

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Mutational mechanisms of Williams-Beuren syndrome deletions

27 June 2018

1 reference

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

27 June 2018

1 reference

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Human Gene Mutation Database (HGMD): 2003 update.

27 June 2018

1 reference

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Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

4 September 2018

1 reference

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Hypophosphatemia and hyperparathyroidism in a case of Bartter's syndrome

4 September 2018

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12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

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12 December 2020

Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome

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12 December 2020

[Antenatal form of Bartter's syndrome]

1 reference

12 December 2020

"Neonatal variant" of Bartter syndrome presenting with acidosis

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states

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12 December 2020

Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism

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12 December 2020

Bartter syndromes and other salt-losing tubulopathies

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12 December 2020

Identifiers

DOI

10.1210/JC.2016-1211

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963954%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963954%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

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