Renpenning Syndrome Latest Advances

Find the Latest Research About Renpenning Syndrome

Last Updated: 06/30/2026

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Found 19 publications

The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.

The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.

Journal: Nature communications

Published: April 14, 2025

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

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.

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.

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.

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.

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).

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.

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.

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).

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.

Renpenning syndrome in a female.

Journal: American journal of medical genetics. Part A

Published: April 13, 2019

Renpenning syndrome in an Indian patient.

Renpenning syndrome in an Indian patient.

Journal: American journal of medical genetics. Part A

Published: March 26, 2019

Showing 1-12 of 19

Last Updated: 06/30/2026