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PAFAH1B1: platelet activating factor acetylhydrolase 1b regulatory subunit 1
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Gene · 5048

Papers1,956

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

1 to 20 of 1,956

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TitleJournalYearPMIDFound bySource
Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.Front Genet202642775388PubTator, text miningPubMed
USP6-FISH Negative Nodular Fasciitis: Benign Impostor of the Orbit.Ophthalmic Plast Reconstr Surg202642727019PubTator, text miningPubMed
[A case of bilateral open-lip schizencephaly with West syndrome due to variant of PAFAH1B1 gene and literature review].Zhonghua Yi Xue Yi Chuan Xue Za Zhi202642711133PubTator, text miningPubMed
Genotype-Driven MRI Re-evaluation Reveals Subtle PAFAH1B1-Related Lissencephaly.J Child Neurol202642658896PubTator, text miningPubMed
Corpus Callosotomy in LIS1 Lissencephaly: Postoperative Ketogenic Diet-Related Metabolic Derangements and Feeding Intolerance.Cureus202642453837PubTator, text miningPubMed
Deep learning-based identification of causative genes in lissencephaly using 3D-MRI volumetric datasets.Neuroimage Rep202642381865PubTator, text miningPubMed
Bronchoalveolar lavage microbiota signatures and stage-associated alterations in early-stage and advanced-stage non-small cell lung cancer: a pilot study.J Transl Med202642321844PubTator, text miningPubMed
The P3018S disease variant reveals how dynein's trailing motor sets ensemble velocity.bioRxiv202642239374PubTator, text miningPubMed
Structural and ensemble-based mechanistic insights into cytoplasmic dynein-1.Front Mol Biosci202642181769PubTator, text miningPubMed
Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.Orphanet J Rare Dis202642177523PubTator, text miningPubMed
Bombyx mori BmLis1 inhibits BmNPV replication by promoting the cell cycle G2/M progression.Insect Sci202642032854PubTator, text miningPubMed
Miller-Dieker Syndrome: Genetic Etiology, Neurocognitive Impact, and Clinical Implications in a Neuronal Migration Disorder.Dev Neuropsychol202641979906PubTator, text miningPubMed
Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders.Cells202641892327PubTator, text miningPubMed
PACS1 syndrome mutation disrupts dynein-mediated cargo transport via HDAC6 and BICD2.Commun Biol202641888583PubTator, text miningPubMed
Primary malignant aneurysmal bone cyst of the metatarsal with PAFAH1B1::USP6 fusion: expanding the clinicopathologic spectrum of malignant USP6 translocated neoplasms.Skeletal Radiol202641880003PubTator, text miningPubMed
Genetic landscape and phenotypic correlations of lissencephaly: prenatal and postnatal insights.Brain Commun202641853045PubTator, text miningPubMed
Two translocation mechanisms drive neural stem cell dissemination into the human fetal cortex.Neuron202641844158PubTator, text miningPubMed
LIS1 mediated Schwann cell reprogramming enhances perineural invasion by activating the serine/NMDAR/AKT signaling pathway in head and neck squamous carcinoma.Cancer Cell Int202641765937PubTator, text miningPubMed
Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease-associated genes in the Hispanic population.Alzheimers Dement202641755704PubTator, text miningPubMed
Subcortical band heterotopia in a child with new-onset seizures: A case report.Epilepsy Behav Rep202641737953PubTator, text miningPubMed

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Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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