Renpenning Syndrome Latest Advances
Find the Latest Research About Renpenning Syndrome
Last Updated: 02/24/2026
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Found 18 publications
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Journal: Molecular psychiatry
Published: January 12, 2023
The role of PQBP1 in neural development and function.
Journal: Biochemical Society transactions
Published: September 14, 2022
A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.
Journal: Anatolian journal of cardiology
Published: February 22, 2022
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.
Journal: European journal of human genetics : EJHG
Published: February 07, 2022
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.
Journal: Applied neuropsychology. Child
Published: September 02, 2021
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>G).
Journal: Stem cell research
Published: December 06, 2020
The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.
Journal: The Journal of biological chemistry
Published: December 07, 2019
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene.
Journal: Ophthalmic genetics
Published: November 14, 2019
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A).
Journal: Stem cell research
Published: June 06, 2019
Renpenning syndrome in a female.
Journal: American journal of medical genetics. Part A
Published: April 13, 2019
Renpenning syndrome in an Indian patient.
Journal: American journal of medical genetics. Part A
Published: March 26, 2019
Frameshift PQBP-1 mutants K192Sfs*7 and R153Sfs*41 implicated in X-linked intellectual disability form stable dimers.
Journal: Journal of structural biology
Published: November 02, 2018
Last Updated: 02/24/2026