A common molecular basis for three inherited kidney stone diseases (Q24316946)

GOA release 2020-03-11

excretion

1 reference

Blanche Schwappach-Pignataro

GOA release 2020-03-11

author

object named as

B Schwappach

5

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Alessandra Bolino

object named as

A Bolino

8

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author name string

S E Lloyd

1

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S H Pearce

2

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S E Fisher

3

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K Steinmeyer

4

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S J Scheinman

6

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B Harding

7

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M Devoto

9

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P Goodyer

10

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S P Rigden

11

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O Wrong

12

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T J Jentsch

13

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I W Craig

14

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R V Thakker

The pathogenesis and treatment of kidney stones

15

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language of work or name

English

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publication date

1 February 1996

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published in

Nature

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volume

379

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issue

6564

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page(s)

445-9

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cites work

1 reference

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The medical aspects of urolithiasis: an overview.

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X-linked recessive nephrolithiasis with renal failure

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Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets

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Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

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Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

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Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

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Properties of voltage-gated chloride channels of the ClC gene family

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Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel

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Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)

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The skeletal muscle chloride channel in dominant and recessive human myotonia

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Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion.

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A chloride channel widely expressed in epithelial and non-epithelial cells

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Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease

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Electrical properties of amphibian urinary bladder epithelia. II. The cell potential profile in necturus maculosus

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The GEF1 gene of Saccharomyces cerevisiae encodes an integral membrane protein; mutations in which have effects on respiration and iron-limited growth.

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Purification, reconstitution, and subunit composition of a voltage-gated chloride channel from Torpedo electroplax

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Cellular calcium transport in renal epithelia: measurement, mechanisms, and regulation.

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

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

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Functional messenger RNAs are produced by SP6in vitrotranscription of cloned cDNAs

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Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes.

1 reference

7 January 2021

ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family

1 reference

7 January 2021