Evidence map›Paper›PMID 42196615›Full record

ArticleInternational journal of molecular sciences2026

Identification of Pathogenic Variants in

Malali Abdul Sattar, Amna Aurang Zaib, Huda Abbasi, Mirza Zain Ul Abideen, Saima Riazuddin, Zubair M Ahmed, Muhammad Naeem

Abstract read
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In one paragraph

Article in International journal of molecular sciences, 2026. 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
–field-weighted citation impact
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.

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

7 authors.

Malali Abdul SattarDepartment of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Amna Aurang ZaibDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Huda AbbasiDepartment of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Mirza Zain Ul AbideenDepartment of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan.ORCID 0000-0002-0875-4611
Saima RiazuddinDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Zubair M AhmedDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.ORCID 0000-0003-2914-4502
Muhammad NaeemDepartment of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan.ORCID 0000-0002-3894-3085

Funding

Molecular Determinants of Pigmentation (MDoP)R01AR077563 · NIAMS · UNIVERSITY OF MARYLAND BALTIMORE · PI Zubair M. Ahmed · 2021 to 2026
$2.4M
NIAMS NIH HHS R01AR077563
6 · The paper itself

Abstract

Inherited ichthyoses are clinically and genetically heterogeneous disorders of cornification caused by disruption of epidermal barrier genes involved in keratinization and lipid homeostasis. Pathogenic variants in more than 50 genes have been implicated in nonsyndromic ichthyosis vulgaris (IV) and autosomal recessive congenital ichthyosis (ARCI). Here, we investigated the genetic basis of ichthyosis in four consanguineous Pakistani families presenting with IV or ARCI phenotypes. Exome sequencing followed by segregation analysis identified pathogenic variants in four established ichthyosis-associated genes:

Indexed as

Arachidonate 12-LipoxygenaseCytochrome P450 Family 4IchthyosisMembrane ProteinsChildConsanguinityCytochrome P-450 Enzyme SystemFemaleFilaggrin ProteinsHumansMaleMutationPakistanPedigreePhenotypeReceptors, Cell SurfaceALOX12B protein, humanArachidonate 12-LipoxygenaseCYP4F22 protein, humanCytochrome P-450 Enzyme SystemCytochrome P450 Family 4Filaggrin ProteinsFLG protein, humanMembrane ProteinsNIPAL4 protein, humanReceptors, Cell SurfaceALOX12BARCIconsanguineous familiesCYP4F22FLGgenodermatosesichthyosis vulgarisNIPAL4

Identifiers

PMID42196615
PMCPMC13207361

What OpenQuestion holds

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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.