Evidence map›Paper›PMID 41828556›Full record

ArticleInternational journal of molecular sciences2026

Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.

Einat Avishai, Rima Dardik, Linda Rubinstein, Ivan Budnik, Yair Ben Gera, Rachel Twitto-Greenberg, Gili Kenet, Tami Livnat, Sarina Levy-Mendelovich

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

9 authors.

Einat AvishaiNational Hemophilia Center, Sheba Medical Center, Ramat Gan 52621, Israel.ORCID 0009-0002-6920-790X
Rima DardikNational Hemophilia Center, Sheba Medical Center, Ramat Gan 52621, Israel.
Linda RubinsteinThe Joseph Sagol Neuroscience Center, Sheba Medical Center, Gray School of Medicine, Tel Aviv University, Tel Aviv 52621, Israel.
Ivan BudnikDepartment of Internal Medicine, Division of Hematology, Oncology, and Blood & Marrow Transplantation, The University of Iowa, Iowa City, IA 52242, USA.ORCID 0000-0002-6652-2667
Yair Ben GeraThe Joseph Sagol Neuroscience Center, Sheba Medical Center, Gray School of Medicine, Tel Aviv University, Tel Aviv 52621, Israel.
Rachel Twitto-GreenbergThe Joseph Sagol Neuroscience Center, Sheba Medical Center, Gray School of Medicine, Tel Aviv University, Tel Aviv 52621, Israel.
Gili KenetNational Hemophilia Center, Sheba Medical Center, Ramat Gan 52621, Israel.
Tami LivnatNational Hemophilia Center, Sheba Medical Center, Ramat Gan 52621, Israel.ORCID 0000-0002-1279-2557
Sarina Levy-MendelovichNational Hemophilia Center, Sheba Medical Center, Ramat Gan 52621, Israel.ORCID 0000-0003-3971-0336

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

NKAP (NF-kappa-B-activating protein) is a ubiquitously expressed nuclear protein involved in multiple biological processes. Males with missense

Indexed as

Musculoskeletal AbnormalitiesRepressor ProteinsX Chromosome InactivationAnimalsCell ProliferationCellular SenescenceDisease Models, AnimalFactor VIIIFemaleGait AnalysisHemizygoteHeterozygoteHumansMaleMiceMice, Mutant StrainsF8 protein, humanFactor VIIINKAP protein, humanRepressor ProteinsCatWalk XTfactor VIIIhemophiliaNKAPX chromosome inactivation

Identifiers

PMID41828556
PMCPMC12985768

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.