Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing (Q24290187)

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English	Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing	scientific article

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scholarly article

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Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing (English)

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ATPase H+ transporting V0 subunit a4

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GOA release 2020-03-11

distal renal tubular acidosis

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renal tubular acidosis

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author name string

A N Smith

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J Skaug

2

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K A Choate

3

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A Nayir

4

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A Bakkaloglu

5

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S Ozen

6

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S A Hulton

7

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S A Sanjad

8

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E A Al-Sabban

9

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R P Lifton

10

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S W Scherer

11

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F E Karet

12

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language of work or name

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publication date

September 2000

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Nature Genetics

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26

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71-5

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1

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Identification of a specific telomere terminal transferase activity in Tetrahymena extracts

1 reference

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Telomere shortening and apoptosis in telomerase-inhibited human tumor cells

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Telomere maintenance by recombination in human cells.

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DNA sequences of telomeres maintained in yeast

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An alternative pathway for yeast telomere maintenance rescues est1- senescence

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Telomere-telomere recombination is an efficient bypass pathway for telomere maintenance in Saccharomyces cerevisiae

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Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

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Short dysfunctional telomeres impair tumorigenesis in the INK4a(delta2/3) cancer-prone mouse

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Unusual DNA sequences associated with the ends of yeast chromosomes

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Evidence for an alternative mechanism for maintaining telomere length in human tumors and tumor-derived cell lines

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Physiology and biochemistry of the kidney vacuolar H+-ATPase

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based on heuristic

inferred from DOI database lookup

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

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Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34

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Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17

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Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit

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Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells

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Retention and retrieval in the endoplasmic reticulum and the Golgi apparatus

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based on heuristic

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The vacuolar H(+)-translocating ATPase of renal tubules contains a 115-kDa glycosylated subunit

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based on heuristic

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Site-directed mutagenesis of the 100-kDa subunit (Vph1p) of the yeast vacuolar (H+)-ATPase

1 reference

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Function of the COOH-terminal domain of Vph1p in activity and assembly of the yeast V-ATPase

1 reference

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Polymorphic DNA region adjacent to the 5' end of the human insulin gene

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Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21

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IRE-bubble PCR: a rapid method for efficient and representative amplification of human genomic DNA sequences from complex sources

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Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

1 reference

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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

1 reference

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1 reference

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based on heuristic

inferred from DOI database lookup

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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