Hidetoshi Taniguchi

Osaka, Japan

Last Updated: 09/26/2026

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Found 10 publications

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

Inter-hemispheric somatosensory coherence and parental stress in hypersensitivity at 8 months old: An electroencephalography study.

Inter-hemispheric somatosensory coherence and parental stress in hypersensitivity at 8 months old: An electroencephalography study.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: December 26, 2023

An International Aircraft Transport of a Neonate From Georgia to Japan.

An International Aircraft Transport of a Neonate From Georgia to Japan.

Journal: Cureus

Published: September 08, 2022

A human isogenic iPSC-derived cell line panel identifies major regulators of aberrant astrocyte proliferation in Down syndrome.

A human isogenic iPSC-derived cell line panel identifies major regulators of aberrant astrocyte proliferation in Down syndrome.

Journal: Communications biology

Published: September 25, 2020

Prenatal clinical manifestations in individuals with COL4A1/2 variants.

Prenatal clinical manifestations in individuals with COL4A1/2 variants.

Journal: Journal of medical genetics

Published: February 03, 2020

4-Phenylbutyrate ameliorates apoptotic neural cell death in Down syndrome by reducing protein aggregates.

4-Phenylbutyrate ameliorates apoptotic neural cell death in Down syndrome by reducing protein aggregates.

Journal: Scientific reports

Published: December 24, 2019

Successful management of fetal hemolytic disease due to strong anti-Rh17 with plasma exchange and intrauterine transfusion in a woman with the D-- phenotype.

Successful management of fetal hemolytic disease due to strong anti-Rh17 with plasma exchange and intrauterine transfusion in a woman with the D-- phenotype.

Journal: International journal of hematology

Published: February 08, 2019

Elimination of protein aggregates prevents premature senescence in human trisomy 21 fibroblasts.

Elimination of protein aggregates prevents premature senescence in human trisomy 21 fibroblasts.

Journal: PloS one

Published: October 09, 2018

A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation.

A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation.

Journal: Scientific reports

Published: August 22, 2016

Systematic Cellular Disease Models Reveal Synergistic Interaction of Trisomy 21 and GATA1 Mutations in Hematopoietic Abnormalities.

Systematic Cellular Disease Models Reveal Synergistic Interaction of Trisomy 21 and GATA1 Mutations in Hematopoietic Abnormalities.

Journal: Cell reports

Published: August 15, 2015

Showing 1-10 of 10

Last Updated: 09/26/2026