Evidence map›Paper›PMID 42086905›Full record

ArticleEMBO molecular medicine2026

Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.

Nanako Hamada, Lama AlAbdi, Tomoko Uehara, Looprasertkul Sasikarn, Takuma Nishijo, Reut Suliman-Lavie, Mais O Hashem, Majid Alfadhel, Shatha Alhefdhi, Brahim Tabarki and 9 more

Abstract read
In one paragraph

Article in EMBO molecular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

19 authors.

Nanako HamadaDepartment of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.ORCID 0009-0008-9245-3344
Lama AlAbdiCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Tomoko UeharaCentral Hospital, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.ORCID 0009-0002-1815-9928
Looprasertkul SasikarnSection of Electron Microscopy, Supportive Center for Brain Research, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, 444-8787, Japan.
Takuma NishijoDepartment of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.
Reut Suliman-LavieDepartment of Genetics, The Alexander Silberman Institute of Life Sciences The Hebrew University of Jerusalem, Jerusalem, 91904, Israel.
Mais O HashemCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Majid AlfadhelMedical Genomics Research Department, King Abdullah International Medical Research Center, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Shatha AlhefdhiMedical Genetics Division, Department of Pediatrics, King Khalid University Hospital, King Saud University, Riyadh, 12372, Saudi Arabia.ORCID 0009-0003-2813-8917
Brahim TabarkiDivision of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Malak AlghamdiMedical Genetics Division, Pediatrics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ikuko IwamotoDepartment of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.
Toshiki TakenouchiDepartment of Pediatrics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan.
Kenjiro KosakiCenter for Medical Genetics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan.
Sagiv ShifmanDepartment of Genetics, The Alexander Silberman Institute of Life Sciences The Hebrew University of Jerusalem, Jerusalem, 91904, Israel.ORCID 0000-0003-4071-5361
Seiji MizunoCentral Hospital, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.
Nobuhiko OhnoDepartment of Anatomy, Division of Histology and Cell Biology, School of Medicine, Jichi Medical University, Shimotsuke, 329-0498, Japan.ORCID 0000-0002-6536-2753
Fowzan S AlkurayaCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Koh-Ichi NagataDepartment of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan. knagata@inst-hsc.jp.ORCID 0000-0002-6827-8434

Funding

Daiko Foundation () 9234Israel Science Foundation (ISF) 1863/24MEXT | Japan Society for the Promotion of Science (JSPS) 23K07284MEXT | Japan Society for the Promotion of Science (JSPS) JP20K21589MEXT | Japan Society for the Promotion of Science (JSPS) JP22H03049MEXT | Japan Society for the Promotion of Science (JSPS) JP22H04926
6 · The paper itself

Abstract

CEP152 is essential for centriole function and neurodevelopment, and pathogenic recessive variants in CEP152 cause primary microcephaly. We identified new compound heterozygous CEP152 variants, c.314 G > A,p.(W105*) and c.2689 A > T,p.(K897*), in a microcephalic patient and analyzed them alongside a homozygous variant c.95 A > C,p.(Q32P) associated with severe microcephaly with marked gyral simplification. In vitro assays revealed distinct effects: p.K897* prevented centrosomal localization, p.W105* led to protein degradation, and p.Q32P retained centrosomal targeting but disrupted binding to Polo-like kinase 4, a key centriole biogenesis kinase and CEP152 partner. In vivo, both Cep152

Indexed as

BrainCell Cycle ProteinsCentrosomal Associated ProteinsMicrocephalyAnimalsCentriolesCentrosomeFemaleHumansMaleMiceCell Cycle ProteinsCentrosomal Associated ProteinsCEP152 protein, human

Identifiers

PMID42086905
PMCPMC13270125

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.