Junichiro Machida

Toyota, Japan

Last Updated: 09/26/2026

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Found 17 publications

MSX1 variant causes nonsyndromic tooth agenesis in a Japanese patient.

MSX1 variant causes nonsyndromic tooth agenesis in a Japanese patient.

Journal: Human genome variation

Published: December 29, 2025

Identification of a novel TPO gene mutation in a Japanese patient with Hashimoto's disease.

Identification of a novel TPO gene mutation in a Japanese patient with Hashimoto's disease.

Journal: QJM : monthly journal of the Association of Physicians

Published: November 22, 2024

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

Journal: Human genome variation

Published: October 05, 2023

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Journal: Human genome variation

Published: November 29, 2022

A novel LRP6 variant in a Japanese family with oligodontia.

A novel LRP6 variant in a Japanese family with oligodontia.

Journal: Human genome variation

Published: June 15, 2021

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.

Journal: Human genome variation

Published: May 23, 2021

Identification of nuclear localization signals in the human homeoprotein MSX1.

Identification of nuclear localization signals in the human homeoprotein MSX1.

Journal: Biochemistry and cell biology = Biochimie et biologie cellulaire

Published: November 21, 2017

WNT10A variants isolated from Japanese patients with congenital tooth agenesis.

WNT10A variants isolated from Japanese patients with congenital tooth agenesis.

Journal: Human genome variation

Published: June 14, 2017

p53 and ki67 as biomarkers in determining response to chemoprevention for oral leukoplakia.

p53 and ki67 as biomarkers in determining response to chemoprevention for oral leukoplakia.

Journal: Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology

Published: August 18, 2016

Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient.

Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient.

Journal: Mutagenesis

Published: July 30, 2015

An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.

An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.

Journal: PloS one

Published: February 23, 2015

A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1.

A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1.

Journal: Human molecular genetics

Published: August 14, 2014

Showing 1-12 of 17

Last Updated: 09/26/2026