A. Nakayama

发表

Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently

M. Nguyen, C. Hodgkinson, H. Arnheiter, 1998, Mechanisms of Development.

Lack of the mesodermal homeodomain protein MEOX1 disrupts sclerotome polarity and leads to a remodeling of the cranio-cervical joints of the axial skeleton.

M. Nguyen, C. Wright, V. Pachnis, 2009, Developmental biology.

Characterization of Novel MSX1 Mutations Identified in Japanese Patients with Nonsyndromic Tooth Agenesis

M. Kimura, Y. Higashi, H. Miyachi, 2014, PloS one.

Impaired social facilitation on voluntary exercise of BALB/cCrSlc mice, a proposed as an autism spectrum disorder model

K. Yoshizaki, A. Nakayama, Masato Asai, 2020, Neuroscience Research.

Identification of nuclear localization signals in the human homeoprotein MSX1.

M. Kimura, H. Miyachi, K. Shimozato, 2018, Biochemistry and cell biology = Biochimie et biologie cellulaire.

Increment of α B-crystallin mRNA in the brain of patient with infantile type Alexander's disease

Kazuto Kobayashi, Kazuyoshi Watanabe, T. Negoro, 1991 .

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

M. Kimura, N. Ishiguro, H. Kitoh, 2015, Mutagenesis.

A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia.

T. Ono, H. Miyachi, K. Shimozato, 2011, International journal of oral and maxillofacial surgery.

STK25 and MST3 Have Overlapping Roles to Regulate Rho GTPases during Cortical Development

B. Howell, M. Ueda, A. Iio, 2021, The Journal of Neuroscience.

Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4.

M. Kimura, Y. Higashi, H. Miyachi, 2014, European journal of oral sciences.

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

N. Matsumoto, M. Kimura, M. Nakashima, 2015, PloS one.

Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia

M. Kimura, T. Ono, Y. Higashi, 2011, European Journal of Human Genetics.

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

N. Jenkins, E. Steingrímsson, K. J. Moore, 1993, Cell.

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

U. Francke, L. Pérez-Jurado, T. Miki, 1994, Human molecular genetics.

Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor.

W. Pavan, M. Nguyen, C. Hodgkinson, 1997, Development.

Reduction in miR‐219 expression underlies cellular pathogenesis of oligodendrocytes in a mouse model of Krabbe disease

H. Takebayashi, N. Takakura, J. Matsuda, 2021, Brain pathology.

Novel RUNX2/CBFA1 mutation in the runt domain in a Japanese patient with cleidocranial dysplasia

Katsu Takahashi, T. Nagao, Y. Higashi, 2017 .

A novel LRP6 variant in a Japanese family with oligodontia

Katsu Takahashi, N. Matsumoto, M. Kimura, 2021, Human genome variation.

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

Katsu Takahashi, T. Nagao, Y. Tokita, 2021, Human genome variation.

WNT10A variants isolated from Japanese patients with congenital tooth agenesis

Katsu Takahashi, H. Izumi, H. Miyachi, 2017, Human Genome Variation.

Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.

H. Li, T. Glaser, C. Hodgkinson, 1998, Human molecular genetics.

Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region

A. Yoshiki, M. Kusakabe, M. Sano, 2006, Human mutation.

Identical sets of methylated and nonmethylated genes in Ciona intestinalis sperm and muscle cells

A. Bird, S. Takuno, S. Shigenobu, 2013, Epigenetics & Chromatin.

DDX6 post-transcriptionally down-regulates miR-143/145 expression through host gene NCR143/145 in cancer cells.

Y. Akao, T. Naoe, A. Iio, 2013, Biochimica et biophysica acta.

Loss of Deacetylation Activity of Hdac6 Affects Emotional Behavior in Mice

Yoshiharu Kawaguchi, Atsuo Nakayama, Takayoshi Suzuki, 2012, PloS one.

Long-term stimulation of the subthalamic nucleus in hemiparkinsonian rats: neuroprotection of dopaminergic neurons.

Y. Kajita, Y. Kaneoke, S. Maesawa, 2004, Journal of neurosurgery.

Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities

H. Tabata, S. Eda, M. Ueda, 2020, Molecular Brain.

Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome

K. Nagata, H. Tabata, D. Mori, 2023, Biomolecules.

Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine dysgenesis

H. Tabata, S. Eda, M. Ueda, 2020 .

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

N. Matsumoto, H. Saitsu, S. Eda, 2019, Molecular genetics & genomic medicine.

Distribution of nestin and other stem cell‐related molecules in developing and diseased human spinal cord

N. Mori, E. Aoki, Y. Hashizume, 2007, Pathology international.

Hironori Ito, R. Wakako, R. Katoh‐Semba, 2007, International Journal of Developmental Neuroscience.

[Genetics and epigenetics in autism].

E. Aoki, A. Nakayama, S. Masaki, 2006, Nihon shinkei seishin yakurigaku zasshi = Japanese journal of psychopharmacology.

Dopaminergic abnormalities in Hdac6-deficient mice

T. Yao, T. Mamiya, Y. Kawaguchi, 2016, Neuropharmacology.

Expression analyses of WAC, a responsible gene for neurodevelopmental disorders, during mouse brain development.

K. Nagata, Hidenori Ito, Tohru Matsuki, 2023, Medical molecular morphology.

The distribution of neuroligin4, an autism-related postsynaptic molecule, in the human brain

E. Aoki, Y. Hashizume, S. Eda, 2023, Molecular Brain.

A Novel Constitutively Active c . 98 G > C , p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization

K. Nagata, H. Saitsu, M. Nakashima, 2023, Human Mutation.

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia

T. Nagao, J. Machida, A. Nakayama, 2023, Human Genome Variation.