• A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited <em>PQBP1</em> missense mutation
• A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome
• Brief report: linkage between G6PD and fragile-X syndrome
• Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome
• Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome)
• Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability
• First Korean Case of Renpenning Syndrome with Novel Mutation in <em>PQBP1</em> Diagnosed by Targeted Exome Sequencing, and Literature Review
• Fragile X and autistic mental retardation
• Frameshift PQBP-1 mutants K192S^fs*7 and R153S^fs*41 implicated in X-linked intellectual disability form stable dimers
• Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C&gt;G)
• Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)
• Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
• Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy
• Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A)
• Letter: Renpenning's syndrome
• Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (<em>PQBP1</em>) gene
• Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
• Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction
• Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
• PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1
• PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation
• Renpenning syndrome comes into focus
• Renpenning syndrome in a female
• Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C&gt;T in <em>PACS1</em> and Hypogammaglobulinemia Phenotype
• Renpenning syndrome in an Indian patient
• The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males
• The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor
• The role of PQBP1 in neural development and function
• The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling
• Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
• Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning
• X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs
• X-linked mental deficiency
• X-linked mental retardation without physical abnormality: Renpenning's syndrome
• Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing