Evidence map›Paper›PMID 38695247›Full record

ArticleMolecular medicine reports2024

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.

Jing Zhang, Yue Yao, Ya Tan, Hua-Ying Hu, Lin-Xi Zeng, Guo-Qiang Zhang

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular medicine reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.3field-weighted citation impact, top 23% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
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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 3 institutions in 1 country.

Jing ZhangDepartment of Gynecology and Obstetrics, Beijing Jishuitan Hospital, Capital Medical University, Beijing 102208, P.R. China.
Yue YaoDepartment of Dermatology, The First Hospital of Hebei Medical University, Candidate Branch of National Clinical Research Center for Skin Diseases, Hebei Provincial Innovation Center of Dermatology and Medical Cosmetology Technology, Shijiazhuang, Hebei 050030, P.R. China.
Ya TanDepartment of Obstetrics and Gynecology, Peking University International Hospital, Beijing 102206, P.R. China; 4Jiaen Genetics Laboratory, Beijing Jiaen Hospital, Beijing 100191, P.R. China.
Hua-Ying HuJiaen Genetics Laboratory, Beijing Jiaen Hospital, Beijing 100191, P.R. China.
Lin-Xi ZengDepartment of Dermatology, The First Hospital of Hebei Medical University, Candidate Branch of National Clinical Research Center for Skin Diseases, Hebei Provincial Innovation Center of Dermatology and Medical Cosmetology Technology, Shijiazhuang, Hebei 050030, P.R. China.
Guo-Qiang ZhangDepartment of Dermatology, The First Hospital of Hebei Medical University, Candidate Branch of National Clinical Research Center for Skin Diseases, Hebei Provincial Innovation Center of Dermatology and Medical Cosmetology Technology, Shijiazhuang, Hebei 050030, P.R. China.
Hebei Medical University · CNCapital Medical University · CNPeking University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole‑exome sequencing, with Sanger sequencing as the validation method. The MEGA7 program was used to analyze the conservation of amino acid residues affected by the detected missense variants. The enrolled patients exhibited ichthyosis‑like but distinct clinical manifestations. Genetic analysis identified diagnostic variations in the

Indexed as

Exome SequencingFilaggrin ProteinsIchthyosisKeratoderma, PalmoplantarPedigreeSteryl-SulfataseAdolescentAdultChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenetic TestingHumansKeratin-10MaleFilaggrin ProteinsFLG protein, humanKeratin-10KRT10 protein, humanSERPINB7 protein, humanSerpinsSteryl-SulfataseSTS protein, humanFLGinherited ichthyosisKRT10SERPINB7STS

Identifiers

PMID38695247
PMCPMC11094583
OpenAlexW4396561464

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.