ArticleGenes2021
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo
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Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.1field-weighted citation impact, top 27% of its field
What it found
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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.
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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.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
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- Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.Molecular genetics & genomic medicine · 2023Article
- The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant inFrontiers in genetics · 2023Article
- Traffic jam within lymphocytes: A clinician's perspective.Frontiers in immunology · 2022Review
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles.Frontiers in genetics · 2022Article
- Pathogenic roles and diagnostic utility of interleukin-18 in autoinflammatory diseases.Frontiers in immunology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 4 institutions in 2 countries.
Abdulaziz AsiriFaculty of Applied Medical Sciences, University of Bisha, 255, Al Nakhil, Bisha 67714, Saudi Arabia.ORCID 0000-0001-6304-2943
Deemah AlwadaaniMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Muhammad UmairMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.ORCID 0000-0001-6729-9746
Kheloud M AlhamoudiMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.ORCID 0000-0002-2738-9154
Mohammed H AlmuhannaCellular Therapy and Cancer Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Abdul NasirDepartment of Molecular Science and Technology, Ajou University, Suwon 443-749, Korea.ORCID 0000-0002-2339-3500
Bahauddeen M AlrfaeiStem Cells Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.ORCID 0000-0002-5740-9187
Abeer Al TuwaijriMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Tlili BarhoumiMedical Core Facility and Research Platforms, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.
Yusra AlyafeeMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Bader AlmuzzainiMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.ORCID 0000-0003-1176-9037
Mohammed AldreesMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Mariam BallowMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Latifah AlayyarMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Abdulkareem Al AbdulrahmanMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.ORCID 0000-0002-0761-0800
Yazeid AlhaidanMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.ORCID 0000-0002-0569-2988
Nahlah Al GhashamHematology Division, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia.
Sulaiman Al-AjajiAllergy and Immunology Division, Department of Pediatrics, King Abdullah Specialist Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Mohammad AlsalamahAllergy and Immunology Division, Department of Pediatrics, King Abdullah Specialist Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Wafa Al SuwairiRheumatology Division, Department of Pediatrics, King Abdullah Specialist Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Majid AlfadhelMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.ORCID 0000-0002-9427-7240
King Saud bin Abdulaziz University for Health Sciences · SAAjou University · KRKing Abdulaziz Medical City · SAUniversity of Bisha · SA
Funding
No grant is acknowledged in the PubMed record.
Abstract
CDC42 (cell division cycle protein 42) belongs to the Rho GTPase family that is known to control the signaling axis that regulates several cellular functions, including cell cycle progression, migration, and proliferation. However, the functional characterization of the
Indexed as
Genetic Association StudiesGenetic Predisposition to DiseaseBiopsyBraincdc42 GTP-Binding ProteinComputational BiologyDNA Mutational AnalysisExome SequencingFemaleHumansMagnetic Resonance ImagingModels, MolecularMutationPancytopeniaPedigreeProtein Conformationcdc42 GTP-Binding Proteina de novo missense variantCDC42pancytopeniapoor wound healingrecurrent infections
Identifiers
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Read underepoch 390
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.