S. Makino

发表

Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare

K. Kinoshita, J. Yasuda, M. Nagasaki, 2018, Journal of biochemistry.

Whole genome association study of rheumatoid arthritis using 27 039 microsatellites.

Gen Tamiya, Tadashi Imanishi, Takashi Gojobori, 2005, Human molecular genetics.

New polymorphic microsatellite markers in the human MHC class I region.

H. Inoko, T. Shiina, G. Tamiya, 1999, Tissue antigens.

Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs

K. Kinoshita, J. Yasuda, G. Tamiya, 2020, bioRxiv.

3.5KJPNv2, An allele frequency panel of 3,552 Japanese Individuals

K. Kinoshita, J. Yasuda, M. Nagasaki, 2019, bioRxiv.

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

K. Kinoshita, J. Yasuda, M. Nagasaki, 2019, Human Genome Variation.

Clustering by phenotype and genome-wide association study in autism

M. Kikuya, S. Kuriyama, M. Nagai, 2020, Translational Psychiatry.

Clustering by phenotype and genome-wide association study in autism

M. Kikuya, S. Kuriyama, M. Nagai, 2019, bioRxiv.

UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family

Takeo Kato, I. Tooyama, T. Kawanami, 2012, ISRN neurology.

Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: primary role of DQB1*0604.

H. Inoko, G. Tamiya, S. Takahara, 2002, Tissue antigens.

Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene

G. Tamiya, Y. Shimomura, Tamio Suzuki, 2015, The Journal of dermatology.

Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity

Katsuhito Yasuno, G. Tamiya, R. Kaji, 2007, Journal of Human Genetics.

SkinCollagen Overexpression in Scleroderma EBI3 Downregulation Contributes to Type I

T. Makino, Kuniko Nakayama, S. Makino, 2022 .

Desmoplakin as a specific marker of lymphatic vessels.

Y. Nodasaka, Y. Totsuka, S. Makino, 2001, Microvascular research.

Novel algorithm for automated genotyping of microsatellites.

Gen Tamiya, Tadashi Imanishi, Takashi Gojobori, 2004, Nucleic acids research.

Generation of a Monoclonal Antibody Specifically Reacting with Neuron-specific TATA-Box Binding Protein-Associated Factor 1 (N-TAF1)

I. Tooyama, G. Tamiya, S. Makino, 2012 .

Identification of novel candidate genes in the diffuse panbronchiolitis critical region of the class I human MHC

H. Inoko, N. Keicho, G. Tamiya, 2002, Immunogenetics.

New polymorphic microsatellite markers in the human MHC class II region.

H. Inoko, G. Tamiya, Y. Matsuzaka, 1999, Tissue antigens.

Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene.

H. Inoko, T. Shiina, G. Tamiya, 1999, Human molecular genetics.

Twenty-six new polymorphic microsatellite markers around the HLA-B, -C and -E loci in the human MHC class I region.

H. Inoko, T. Shiina, G. Tamiya, 2008, Tissue antigens.

New polymorphic microsatellite markers in the human MHC class II region.

H. Inoko, G. Tamiya, J. Kulski, 2000, Tissue antigens.

Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis.

Y. Yoshikawa, H. Inoko, G. Tamiya, 2003, American journal of human genetics.

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

K. Kinoshita, J. Yasuda, G. Tamiya, 2019, bioRxiv.

ALOX12 mutation in a family with dominantly inherited bleeding diathesis

G. Tamiya, K. Ishii, I. Norota, 2021, Journal of Human Genetics.

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

D. Yanagisawa, I. Tooyama, G. Tamiya, 2014, American journal of human genetics.

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

J. Yasuda, F. Katsuoka, Junko Kawashima, 2021, Nature Communications.

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.

Katsuhito Yasuno, I. Tooyama, G. Tamiya, 2007, American journal of human genetics.

Female Japanese quail visually differentiate testosterone-dependent male attractiveness for mating preferences

S. Sugita, G. Tamiya, T. Sasanami, 2018, Scientific Reports.

Construction of a linkage map of the medaka (Oryzias latipes) and mapping of the Da mutant locus defective in dorsoventral patterning.

H. Inoko, M. Ohtsuka, K. Yoda, 1999, Genome research.

Expression and Localization of TRK-Fused Gene Products in the Rat Brain and Retina

H. Kimura, K. Fukui, I. Tooyama, 2011, Acta histochemica et cytochemica.

Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis

G. Tamiya, M. Hattori, K. Hayasaka, 2015, Journal of Human Genetics.

Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in a pregnant woman with platelet disorder

G. Tamiya, H. Kurachi, S. Makino, 2015, Platelets.

Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles.

J. Hui, H. Inoko, G. Tamiya, 2004, Tissue antigens.

In Vivo Detection of Copper Ions by Magnetic Resonance Imaging Using a Prion-Based Contrast Agent

I. Tooyama, H. Yamada, Eric M. Yezdimer, 2012, Applied Biochemistry and Biotechnology.

Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia

Jerzy K. Kulski, H. Inoko, Katsuhito Yasuno, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Visualizing Hepatic Copper Release in Long–Evans Cinnamon Rats Using Single-Photon Emission Computed Tomography

I. Tooyama, H. Yamada, Eric M. Yezdimer, 2013, Applied Biochemistry and Biotechnology.

Sustained expression of a neuron-specific isoform of the Taf1 gene in development stages and aging in mice.

G. Tamiya, S. Makino, B. Munkhbat, 2012, Biochemical and biophysical research communications.

Functional anatomy of the basal ganglia in X‐linked recessive dystonia‐parkinsonism

J. Kuratsu, I. Tooyama, G. Tamiya, 2005, Annals of neurology.

Infiltration of T Lymphocytes and Expression of ICAM-1 in the Hippocampus of Patients with Hippocampal Sclerosis

T. Beach, I. Tooyama, N. Yamada, 2010, Acta histochemica et cytochemica.

Genome-wide association study identifies new loci for albuminuria in the Japanese population

S. Ito, G. Tamiya, A. Hozawa, 2020, Clinical and Experimental Nephrology.

Association of a Determinant on Mouse Chromosome 18 with Experimental Severe Plasmodium berghei Malaria

G. Tamiya, E. Nagayasu, S. Makino, 2002, Infection and Immunity.

TAF1 as the Most Plausible Disease Gene for XDP/DYT3

G. Tamiya, R. Kaji, S. Makino, 2007 .

Immunohistochemical study of TAFII250 in the rat laryngeal nervous system.

H. Kimura, I. Tooyama, G. Tamiya, 2005, Histology and histopathology.

Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct

K. Nakayama, G. Tamiya, S. Matsuzawa, 2022, Journal of Human Genetics.

Dermoscopic findings of pigmented Spitz nevus of the sole

S. Makino, N. Hatta, M. Arai, 2012, The Journal of dermatology.

Tumour necrosis factor α signalling through activation of Kupffer cells plays an essential role in liver fibrosis of non-alcoholic steatohepatitis in mice

T. Hibi, G. Tamiya, H. Saito, 2005, Gut.

Female Japanese quail visually differentiate testosterone-dependent male attractiveness for mating preferences

S. Sugita, G. Tamiya, T. Sasanami, 2018, Scientific Reports.

Sustained expression of a neuron-specific isoform of the Taf1 gene in development stages and aging in mice.

G. Tamiya, S. Makino, B. Munkhbat, 2012, Biochemical and biophysical research communications.

Outlier detection for questionnaire data in biobanks.

Kengo Kinoshita, Masao Ueki, Gen Tamiya, 2019, International journal of epidemiology.

A fine-scale genetic map of the Japanese population

Masao Ueki, M. Ishikuro, K. Murakami, 2023, bioRxiv.

Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3).

G. Tamiya, R. Kaji, S. Goto, 2005, The journal of medical investigation : JMI.