HNRNPH2-Related Disorder Latest Advances

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Last Updated: 02/24/2026

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Found 45 publications

HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation.

HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation.

Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: December 02, 2025

Preclinical evaluation of antisense oligonucleotide therapy in a mouse model of HNRNPH2 -related neurodevelopmental disorder.

Preclinical evaluation of antisense oligonucleotide therapy in a mouse model of HNRNPH2 -related neurodevelopmental disorder.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Modulation of Spliceosomal Proteins hnRNPH1 and H2 Increases Melanoma Cell Pro-Inflammatory Signaling In Vitro.

Modulation of Spliceosomal Proteins hnRNPH1 and H2 Increases Melanoma Cell Pro-Inflammatory Signaling In Vitro.

Journal: Biomolecules
Published: September 09, 2025

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation.

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation.

Journal: Cells
Published: July 30, 2025

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.

Journal: Clinical genetics
Published: May 15, 2025

Sex-biased transcriptome in in vitro produced bovine early embryos.

Sex-biased transcriptome in in vitro produced bovine early embryos.

Journal: Cell & bioscience
Published: March 27, 2025

Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.

Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.

Journal: Psychiatry and clinical neurosciences
Published: September 05, 2024

5'-tRNAGly(GCC) halves generated by IRE1α are linked to the ER stress response.

5'-tRNAGly(GCC) halves generated by IRE1α are linked to the ER stress response.

Journal: Nature communications
Published: October 31, 2023

hnRNPH2 gain-of-function mutations reveal therapeutic strategies and a role for RNA granules in neurodevelopmental disorders.

hnRNPH2 gain-of-function mutations reveal therapeutic strategies and a role for RNA granules in neurodevelopmental disorders.

Journal: The Journal of clinical investigation
Published: July 18, 2023

A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder.

A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder.

Journal: Advances in neurodevelopmental disorders
Published: July 03, 2023

Defective recognition of a nonclassical nuclear localization signal in neurodevelopmental disorders.

Defective recognition of a nonclassical nuclear localization signal in neurodevelopmental disorders.

Journal: Structure (London, England : 1993)
Published: July 03, 2023

Novel enhancer mediates the RPL36A-HNRNPH2 readthrough loci and GLA gene expressions associated with fabry disease.

Novel enhancer mediates the RPL36A-HNRNPH2 readthrough loci and GLA gene expressions associated with fabry disease.

Journal: Frontiers in genetics
Published: May 25, 2023
Showing 1-12 of 45

Last Updated: 02/24/2026

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