Evidence map›Paper›PMID 24966751›Full record

ArticleEuropean journal of dentistry2014

Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome.

Nalini Aswath, Bhuminathan Swamikannu, Sankar Narayanan Ramakrishnan, Rajendran Shanmugam, Jayakar Thomas, Arvind Ramanathan

Open access · hybridAbstract read
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In one paragraph

Article in European journal of dentistry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.4field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 7 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Nalini AswathDepartment of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
Bhuminathan SwamikannuDepartment of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
Sankar Narayanan RamakrishnanDepartment of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
Rajendran ShanmugamDepartment of Medicine, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
Jayakar ThomasDepartment of Dermatology, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
Arvind RamanathanHuman Genetics Laboratory, Central Research Facility, Sree Balaji Medical and Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
Bharath University · INSree Balaji Dental College and Hospital · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveIn the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community. MATERIALS AND

methodsGenomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing.

resultsSequencing analysis identified Ile453Val mutation within exon 7 of CTSC gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition.

conclusionThe present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.

Indexed as

Cathepsin C mutationHain-Munk syndromeHain-Munk syndrome in Indiasingle nucleotide polymorphism in Hain-Munk syndrome

Identifiers

PMID24966751
PMCPMC4054037
OpenAlexW1981713112

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.