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Genetic Factors of Autoimmune Thyroid Diseases in Japanese

Autoimmune Diseases, 2012-01, Vol.2012, p.236981-9

2012

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Multiple SNPs in intron 41 of thyroglobulin gene are associated with autoimmune thyroid disease in the Japanese population

PloS one, 2012-05, Vol.7 (5), p.e37501-e37501

2012

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Association Studies of the GPR103 and BCL2L15 Genes in Autoimmune Thyroid Disease in the Japanese Population

Frontiers in endocrinology (Lausanne), 2016-07, Vol.7, p.92-92

2016

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BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

Case reports in genetics, 2022-09, Vol.2022, p.1-4

2022

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De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Case reports in genetics, 2022-06, Vol.2022, p.1-6

2022

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Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

Case reports in genetics, 2022-04, Vol.2022, p.6341207-6

2022

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Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families

American journal of human genetics, 2003-10, Vol.73 (4), p.736-747

2003

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The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature

Case reports in genetics, 2021-09, Vol.2021, p.1-5

2021

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Molecular Amino Acid Signatures in the MHC Class II Peptide-Binding Pocket Predispose to Autoimmune Thyroiditis in Humans and in Mice

Proceedings of the National Academy of Sciences - PNAS, 2008-09, Vol.105 (37), p.14034-14039

2008

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Amino Acid Substitutions in the Thyroglobulin Gene Are Associated with Susceptibility to Human and Murine Autoimmune Thyroid Disease

Proceedings of the National Academy of Sciences - PNAS, 2003-12, Vol.100 (25), p.15119-15124

2003

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Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

Case reports in genetics, 2020-01, Vol.2020, p.3256539-7

2020

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Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

Case reports in genetics, 2020-01, Vol.2019, p.9382640-8

2020

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Impact of increased plasma serotonin levels and carotid atherosclerosis on vascular dementia

Atherosclerosis, 2007-11, Vol.195 (1), p.153-159

2007

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Increased Plasma Urotensin-II and Carotid Atherosclerosis are Associated with Vascular Dementia

Journal of Atherosclerosis and Thrombosis, 2009, Vol.16(3), pp.179-187

2009

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Obesity contributes to low trabecular bone score (TBS) in type 2 diabetes

Osteoporosis and Sarcopenia, 2017-09, Vol.3 (3), p.S8-S9

2017

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Periostin, discovered by nano-flow liquid chromatography and mass spectrometry, is a novel marker of diabetic retinopathy

Biochemical and biophysical research communications, 2010-08, Vol.399 (2), p.221-226

2010

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Interferon induced Autoimmune Thyroid Disease (AITD): a model for human autoimmunity

Autoimmunity reviews, 2004-07, Vol.3 (5), p.388-393

2004

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Susceptibility genes in thyroid autoimmunity

Clinical & developmental immunology, 2005-03, Vol.12 (1), p.47-58

2005

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Methylmalonic Acidemia with Novel MUT Gene Mutations

Case reports in genetics, 2017-01, Vol.2017, p.8984951-2

2017

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Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Case reports in genetics, 2017-01, Vol.2017, p.3941483-5

2017

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The Contribution of Immune Regulatory and Thyroid Specific Genes to the Etiology of Graves' and Hashimoto's Diseases

Autoimmunity (Chur, Switzerland), 2003-09, Vol.36 (6-7), p.367-379

2003

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Analysis of Immune Regulatory Genes in Familial and Sporadic Graves’ Disease

The journal of clinical endocrinology and metabolism, 2004-09, Vol.89 (9), p.4562-4568

2004

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Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

Case reports in genetics, 2016-01, Vol.2016, p.4140780-5

2016

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The influence of human leucocyte antigen (HLA) genes on autoimmune thyroid disease (AITD): results of studies in HLA‐DR3 positive AITD families

Clinical endocrinology (Oxford), 2002-07, Vol.57 (1), p.81-88

2002

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Identification of Asian Pear Varieties by SSR Analysis

Breeding Science, 2002, Vol.52(2), pp.115-121

2002

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Genetic Factors of Autoimmune Thyroid Diseases in Japanese

Multiple SNPs in intron 41 of thyroglobulin gene are associated with autoimmune thyroid disease in the Japanese population

Association Studies of the GPR103 and BCL2L15 Genes in Autoimmune Thyroid Disease in the Japanese Population

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families

The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature

Molecular Amino Acid Signatures in the MHC Class II Peptide-Binding Pocket Predispose to Autoimmune Thyroiditis in Humans and in Mice

Amino Acid Substitutions in the Thyroglobulin Gene Are Associated with Susceptibility to Human and Murine Autoimmune Thyroid Disease

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

Impact of increased plasma serotonin levels and carotid atherosclerosis on vascular dementia

Increased Plasma Urotensin-II and Carotid Atherosclerosis are Associated with Vascular Dementia

Obesity contributes to low trabecular bone score (TBS) in type 2 diabetes

Periostin, discovered by nano-flow liquid chromatography and mass spectrometry, is a novel marker of diabetic retinopathy

Interferon induced Autoimmune Thyroid Disease (AITD): a model for human autoimmunity

Susceptibility genes in thyroid autoimmunity

Methylmalonic Acidemia with Novel MUT Gene Mutations

Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

The Contribution of Immune Regulatory and Thyroid Specific Genes to the Etiology of Graves' and Hashimoto's Diseases

Analysis of Immune Regulatory Genes in Familial and Sporadic Graves’ Disease

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

The influence of human leucocyte antigen (HLA) genes on autoimmune thyroid disease (AITD): results of studies in HLA‐DR3 positive AITD families

Identification of Asian Pear Varieties by SSR Analysis

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