Publications by authors named "Junichiro Machida"

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Identification of a novel TPO gene mutation in a Japanese patient with Hashimoto's disease.
Tetsuji Okawa, Takashi Naka, Katsunari Handa, Junichiro Machida, Yuka Ito

QJM· February 2025

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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.
Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Junichiro Machida

Hum Genome Var· January 2024

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Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.
Junya Adachi, Yoshihiko Aoki, Hiroto Izumi, Takeshi Nishiyama, Atsuo Nakayama, Junichiro Machida

Hum Genome Var· January 2023

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A novel LRP6 variant in a Japanese family with oligodontia.
Hiroki Goto, Masashi Kimura, Junichiro Machida, Akiko Ota, Mitsuko Nakashima

Hum Genome Var· July 2021

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Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.
Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Hiroki Goto, Atsuo Nakayama, Junichiro Machida

Hum Genome Var· July 2021

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Identification of nuclear localization signals in the human homeoprotein MSX1.
Akio Shibata, Junichiro Machida, Seishi Yamaguchi, Masashi Kimura, Tadashi Tatematsu

Biochem Cell Biol· August 2018

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WNT10A variants isolated from Japanese patients with congenital tooth agenesis.
Junichiro Machida, Hiroaki Goto, Tadashi Tatematsu, Akio Shibata, Hitoshi Miyachi

Hum Genome Var· November 2017

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p53 and ki67 as biomarkers in determining response to chemoprevention for oral leukoplakia.
Toru Nagao, Saman Warnakulasuriya, Hidenori Sakuma, Satoru Miyabe, Shogo Hasegawa, Junichiro Machida

J Oral Pathol Med· May 2017

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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.
Tadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, Junichiro Machida, Seishi Yamaguchi

PLoS One· May 2016

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A novel PITX2 mutation causing iris hypoplasia.
Masashi Kimura, Yoshihito Tokita, Junichiro Machida, Akio Shibata, Tadashi Tatematsu

Hum Genome Var· April 2016

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Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient.
Akio Shibata, Junichiro Machida, Seishi Yamaguchi, Masashi Kimura, Tadashi Tatematsu

Mutagenesis· January 2016

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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.
Andrew C Lidral, Huan Liu, Steven A Bullard, Greg Bonde, Junichiro Machida

Hum Mol Genet· July 2015

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Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.
Seishi Yamaguchi, Junichiro Machida, Munefumi Kamamoto, Masashi Kimura, Akio Shibata

PLoS One· April 2015

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Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4.
Masashi Kimura, Junichiro Machida, Seishi Yamaguchi, Akio Shibata, Tadashi Tatematsu

Eur J Oral Sci· February 2014

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Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.
Munefumi Kamamoto, Junichiro Machida, Seishi Yamaguchi, Masashi Kimura, Takao Ono

Eur J Hum Genet· August 2011

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FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
Lina M Moreno, Maria Adela Mansilla, Steve A Bullard, Margaret E Cooper, Tamara D Busch, Junichiro Machida

Hum Mol Genet· December 2009

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Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
Junichiro Machida, Têmis M Félix, Jeffrey C Murray, Koh-ichiro Yoshiura, Mitsuyo Tanemura

Cleft Palate Craniofac J· September 2009

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Prognostic factors for keratocystic odontogenic tumor (odontogenic keratocyst): analysis of clinico-pathologic and immunohistochemical findings in cysts treated by enucleation.
Norio Kuroyanagi, Hidenori Sakuma, Satoru Miyabe, Junichiro Machida, Atsuo Kaetsu

J Oral Pathol Med· April 2009

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In a Vietnamese population, MSX1 variants contribute to cleft lip and palate.
Yasushi Suzuki, Peter A Jezewski, Junichiro Machida, Yoriko Watanabe, Min Shi

Genet Med· February 2005

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Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.
Noriko Matsuzawa, Koh-Ichiro Yoshiura, Junichiro Machida, Tomoyasu Nakamura, Teruyuki Niimi

Oral Surg Oral Med Oral Pathol Oral Radiol Endod· October 2004

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Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
Theresa M Zucchero, Margaret E Cooper, Brion S Maher, Sandra Daack-Hirsch, Buena Nepomuceno, Junichiro Machida

N Engl J Med· August 2004

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