(Q28301779)

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Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12

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Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12 (English)

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1 reference

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Aaron Hanukoglu

object named as

Aaron Hanukoglu

4

1 reference

ORCID Public Data File 2021

Israel Hanukoglu

5

object named as

Israel Hanukoglu

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author name string

Emad Muhammad

1

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Neta Leventhal

2

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Galit Parvari

3

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Vered Chalifa-Caspi

6

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Yael Feinstein

7

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Jenny Weinbrand

8

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Harel Jacoby

9

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Esther Manor

10

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Tal Nagar

11

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John C Beck

12

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Val C Sheffield

13

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Eli Hershkovitz

14

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Ruti Parvari

15

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language of work or name

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publication date

April 2011

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129

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4

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397-405

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Hyponatremic dehydration as a presentation of cystic fibrosis

1 reference

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Tandem repeats finder: a program to analyze DNA sequences

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Localization of membrane-associated carbonic anhydrase type IV in kidney epithelial cells

1 reference

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21 January 2018

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

1 reference

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21 January 2018

Hypoxia-inducible carbonic anhydrase IX and XII promote tumor cell growth by counteracting acidosis through the regulation of the intracellular pH.

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21 January 2018

The utility of the transtubular potassium gradient in the evaluation of hyperkalemia

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21 January 2018

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism

1 reference

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21 January 2018

Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.

1 reference

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21 January 2018

Expression of hypoxia-inducible, membrane-bound carbonic anhydrase isozyme XII in mouse tissues.

1 reference

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21 January 2018

Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects

1 reference

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21 January 2018

Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.

1 reference

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21 January 2018

Region- and cell-specific differences in the distribution of carbonic anhydrases II, III, XII, and XIV in the adult rat epididymis

1 reference

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21 January 2018

Transmembrane carbonic anhydrase isozymes IX and XII in the female mouse reproductive organs

1 reference

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21 January 2018

Expression of hypoxia-inducible cell-surface transmembrane carbonic anhydrases in human cancer.

1 reference

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21 January 2018

Identification of carbonic anhydrase XII as the membrane isozyme expressed in the normal human endometrial epithelium

1 reference

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Expression of a novel transmembrane carbonic anhydrase isozyme XII in normal human gut and colorectal tumors

1 reference

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21 January 2018

Localization of carbonic anhydrase XII to the basolateral membrane of H+-secreting cells of mouse and rat kidney

1 reference

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21 January 2018

Expression of transmembrane carbonic anhydrases, CAIX and CAXII, in human development

1 reference

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21 January 2018

Cystic fibrosis

1 reference

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21 January 2018

Expression of the membrane-associated carbonic anhydrase isozyme XII in the human kidney and renal tumors

1 reference

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21 January 2018

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

1 reference

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21 January 2018

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

1 reference

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21 January 2018

Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults.

1 reference

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21 January 2018

Cystic Fibrosis: Lessons from the Sweat Gland

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0930-4

21 January 2018

Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl- channel function

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0930-4

21 January 2018

Effect of cytosolic pH on epithelial Na+ channel in normal and cystic fibrosis sweat ducts

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0930-4

21 January 2018

Carbonic anhydrases: novel therapeutic applications for inhibitors and activators

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0930-4

21 January 2018

Hyponatraemia: new associations and new treatments

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0930-4

21 January 2018

Incidence and prevalence of hyponatremia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0930-4

21 January 2018

Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0930-4

21 January 2018

Autosomal Dominant Pseudohypoaldosteronism Type 1: Mechanisms, Evidence for Neonatal Lethality, and Phenotypic Expression in Adults

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0930-4

21 January 2018

Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

KinSNP software for homozygosity mapping of disease genes using SNP microarrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytosolic pH regulates GCl through control of phosphorylation states of CFTR.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of transmembrane carbonic anhydrase isoenzymes IX and XII in normal human pancreas and pancreatic tumours

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistochemical study of carbonic anhydrase isozymes in human skin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbonic anhydrase IV is expressed in H(+)-secreting cells of rabbit kidney

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudohypoaldosteronism due to sweat gland dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/21184099

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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