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OCRL1 mutations in patients with Dent disease phenotype in Japan

Overview of attention for article published in Pediatric Nephrology, March 2007
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Title
OCRL1 mutations in patients with Dent disease phenotype in Japan
Published in
Pediatric Nephrology, March 2007
DOI 10.1007/s00467-007-0454-x
Pubmed ID
Authors

Takashi Sekine, Kandai Nozu, Rashmi Iyengar, Xue Jun Fu, Masafumi Matsuo, Ryojiro Tanaka, Kazumoto Iijima, Emiko Matsui, Yutaka Harita, Jun Inatomi, Takashi Igarashi

Abstract

Three distinct OCRL1 mutations in three patients with the Dent disease phenotype are described. All the patients manifested an extremely high degree of low-molecular-weight proteinuria and showed no ocular abnormalities or apparent mental retardation. Urinalysis and blood chemistry showed no findings suggestive of Fanconi syndrome with renal tubular acidosis. Mutations in CLCN5 were ruled out. The mutations identified in OCRL1 are one frame-shift mutation (I127stop) and two missense mutations (R301C and R476W). R301C and R476W mutations might be hot spots in OCRL1, which develop very similar phenotypes as Dent-2.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 5%
Unknown 20 95%

Demographic breakdown

Readers by professional status Count As %
Professor 4 19%
Student > Ph. D. Student 4 19%
Student > Bachelor 2 10%
Student > Master 2 10%
Professor > Associate Professor 2 10%
Other 4 19%
Unknown 3 14%
Readers by discipline Count As %
Medicine and Dentistry 9 43%
Agricultural and Biological Sciences 4 19%
Biochemistry, Genetics and Molecular Biology 2 10%
Mathematics 1 5%
Pharmacology, Toxicology and Pharmaceutical Science 1 5%
Other 1 5%
Unknown 3 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 17 July 2022.
All research outputs
#8,534,528
of 25,371,288 outputs
Outputs from Pediatric Nephrology
#1,857
of 4,063 outputs
Outputs of similar age
#32,261
of 91,213 outputs
Outputs of similar age from Pediatric Nephrology
#6
of 18 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,063 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.2. This one is in the 42nd percentile – i.e., 42% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 91,213 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 14th percentile – i.e., 14% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.