Publications by authors named "Koh-Ichiro Yoshiura"

100Publications

Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.

Eur J Med Genet 2020 Dec 25;64(2):104125. Epub 2020 Dec 25.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. Electronic address:

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December 2020

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).

Hum Genome Var 2019 Dec 13;6(1):54. Epub 2019 Dec 13.

Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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December 2019

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

Medicine (Baltimore) 2020 Oct;99(44):e22816

Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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October 2020

Sphenoethmoidal meningoencephalocele with variable hypopituitarism: A case report and review of literature.

Clin Pediatr Endocrinol 2020 3;29(4):183-187. Epub 2020 Oct 3.

Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Japan.

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October 2020

A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.

Endocr J 2020 Nov 9;67(11):1099-1105. Epub 2020 Jul 9.

Department of Molecular Endocrinology and Metabolism, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.

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November 2020

-related disorder in a patient with a novel frameshift variant (c.3925dup).

Hum Genome Var 2019 13;6:54. Epub 2019 Dec 13.

3Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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December 2019

Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations.

Clin Exp Rheumatol 2019 Nov-Dec;37 Suppl 121(6):161-162. Epub 2019 Sep 23.

Department of Immunology and Rheumatology, Unit of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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January 2020

Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.

Cleft Palate Craniofac J 2020 01 23;57(1):80-87. Epub 2019 Jul 23.

Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Tokyo, Japan.

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January 2020

Nonsense mutation in causes normal-pressure hydrocephalus with ciliary abnormalities.

Neurology 2019 05 19;92(20):e2364-e2374. Epub 2019 Apr 19.

From the Departments of Neuropsychiatry (Y.M., N.Y., H.O.) and Otolaryngology-Head and Neck Surgery (C.S.), Unit of Translation Medicine, and Department of Human Genetics (S.Y., A.K., H.M., K.-i.Y., S.O.), Nagasaki University Graduate School of Biomedical Sciences; Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute (K.M., M.N.), Central Laboratory, Institute of Tropical Medicine (NEKKEN) (M.S.), and Gene Research Center, Center for Frontier Life Sciences (T.K.), Nagasaki University; Department of Infectious Diseases (T.T.) and Child and Adolescent Psychiatry Community Partnership Unit (A.I.), Nagasaki University Hospital; Department of Cell Pathology (Y.K.), Graduate School of Medical Sciences, Kumamoto University; and Department of Clinical Psychology, Faculty of Medicine (N.K.), Kagawa University, Takamatsu, Japan.

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May 2019

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

J Hum Genet 2019 Apr 28;64(4):341-346. Epub 2019 Jan 28.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 852-8501, Japan.

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April 2019

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.

Hum Biol 2017 10;89(4):305-307

1 Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Tobetsu, Japan.

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October 2017

Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.

Eur J Med Genet 2018 Oct 17;61(10):631-633. Epub 2018 Apr 17.

Department of Pediatrics, Oita University Faculty of Medicine, Japan. Electronic address:

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October 2018

Novel compound heterozygous variants in the gene in a patient with Alazami syndrome.

Hum Genome Var 2018 29;5:18014. Epub 2018 Mar 29.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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March 2018

Chromosomal analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki.

Br J Haematol 2018 02 19;180(3):381-390. Epub 2017 Dec 19.

Department of Haematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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February 2018

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease.

Hum Genome Var 2017 27;4:17032. Epub 2017 Jul 27.

Department of Neuropsychiatry, Unit of Translation Medicine Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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July 2017

Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.

J Hum Genet 2017 Nov 27;62(11):989-995. Epub 2017 Jul 27.

Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, Nagasaki, Japan.

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November 2017

Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum.

J Hum Genet 2017 Sep 27;62(9):803-808. Epub 2017 Apr 27.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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September 2017

Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.

Plast Reconstr Surg Glob Open 2016 Dec 22;4(12):e1185. Epub 2016 Dec 22.

Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka, Japan; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; and Section of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo, Japan.

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December 2016

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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February 2017

Three brothers with a nonsense mutation in caused by parental germline mosaicism.

Hum Genome Var 2017 9;4:17045. Epub 2017 Nov 9.

2Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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November 2017

Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature.

Diagn Pathol 2016 Oct 22;11(1):101. Epub 2016 Oct 22.

Departments of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University, 1-12-4 Sakamoto, Nagasaki, 852-8523, Japan.

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October 2016

Genetic variants in oxytocin receptor and arginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards their child.

Horm Behav 2017 01 13;87:47-56. Epub 2016 Oct 13.

Department of Neurobiology and Behavior, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan. Electronic address:

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January 2017

Expression of Somatostatin Receptor Type 2A and PTEN in Neuroendocrine Neoplasms Is Associated with Tumor Grade but Not with Site of Origin.

Endocr Pathol 2016 Sep;27(3):179-87

Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, 852 8523, Japan.

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September 2016

Multiple Serum Cytokine Profiling to Identify Combinational Diagnostic Biomarkers in Attacks of Familial Mediterranean Fever.

Medicine (Baltimore) 2016 Apr;95(16):e3449

From the Unit of Translational Medicine, Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences (TK, MU, FN, S-YK, NI, KI, MT, HN, TO, AK), Nagasaki; Department of Rheumatology and Clinical Research Center (KM), Nagasaki Medical Center, Omura; Nagasaki University Hospital (SS), Clinical Research Center, Nagasaki; Department of Internal Medicine (FN), Sasebo City General Hospital; Center for Rheumatic Disease (YU, KE), Sasebo Chuo Hospital, Sasebo; Department of Pathology (JM), Ehime University Graduate School of Medicine and Proteo-Science Center, Toon, Ehime; Department of Infectious Immunology (KA), Shinshu University, Graduate School of Medicine, Matsumoto; Department of Pediatrics (AY), School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa; and Department of Human Genetics (K-IY), Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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April 2016

Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.

Nephrology (Carlton) 2016 Sep;21(9):765-73

Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

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September 2016

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

Mol Genet Metab Rep 2015 Dec 2;5:26-32. Epub 2015 Oct 2.

Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan.

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December 2015

Germline mutations causing familial lung cancer.

J Hum Genet 2015 Oct 16;60(10):597-603. Epub 2015 Jul 16.

Division of Surgical Oncology, Department of Translational Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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October 2015

Increased Levels of Cell-Free miR-517a and Decreased Levels of Cell-Free miR-518b in Maternal Plasma Samples From Placenta Previa Pregnancies at 32 Weeks of Gestation.

Reprod Sci 2015 Dec 2;22(12):1569-76. Epub 2015 Jun 2.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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December 2015

Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

Pediatr Int 2015 Aug 5;57(4):726-8. Epub 2015 May 5.

Division of Developmental Disability, Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Isahaya, Japan.

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August 2015

Pregnancy-associated microRNAs in plasma as potential molecular markers of ectopic pregnancy.

Fertil Steril 2015 May 13;103(5):1202-8.e1. Epub 2015 Mar 13.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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May 2015

A Japanese family with popliteal pterygium syndrome.

Case Reports Plast Surg Hand Surg 2015 24;2(3-4):50-2. Epub 2015 Apr 24.

Department of Plastic and Reconstructive Surgery, Kansai Medical University, Hirakata, Japan.

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June 2016

ABCC11/MRP8 Expression in the Gastrointestinal Tract and a Novel Role for Pepsinogen Secretion.

Acta Histochem Cytochem 2014 Jun 18;47(3):85-94. Epub 2014 Jun 18.

Division of Surgical Oncology, Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences.

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June 2014

Circulating levels of maternal plasma cell-free miR-21 are associated with maternal body mass index and neonatal birth weight.

Prenat Diagn 2015 May 14;35(5):509-11. Epub 2014 Nov 14.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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May 2015

Genome-wide association study of HPV-associated cervical cancer in Japanese women.

J Med Virol 2014 Jul 4;86(7):1153-8. Epub 2014 Apr 4.

Department of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.

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July 2014

Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma.

Gynecol Oncol 2014 Mar 31;132(3):715-21. Epub 2014 Jan 31.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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March 2014

A novel diagnostic method targeting genomic instability in intracystic tumors of the breast.

Breast Cancer 2015 Sep 9;22(5):529-35. Epub 2014 Jan 9.

Department of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Fukuoka, 811-1395, Japan,

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September 2015

[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome].

Seikagaku 2013 Mar;85(3):133-44

Nagasaki University Research Centre for Genomic Instability and Carcinogenesis (NRGIC), Atomic Bomb Disease Institute, Nagasaki University, 1-12-4, Sakamoto, Nagasaki-shi, Nagasaki 852-8523, Japan.

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March 2013

Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy.

Prenat Diagn 2013 Mar 27;33(3):214-22. Epub 2013 Jan 27.

Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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March 2013

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.

Front Genet 2012 2;3:306. Epub 2013 Jan 2.

Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology Yokohama, Japan ; Omics Science Center, RIKEN Yokohama Institute Yokohama, Japan.

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January 2013

[109th Scientific Meeting of the Japanese Society of Internal Medicine: educational lecture: 14. Autoinflammatory syndrome].

Nihon Naika Gakkai Zasshi 2012 Sep;101(9):2733-9

Unit of Translational Medicine, Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Japan.

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September 2012

Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.

Gene 2013 Jan 27;512(2):267-74. Epub 2012 Oct 27.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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January 2013

The Ruby UCSC API: accessing the UCSC genome database using Ruby.

BMC Bioinformatics 2012 Sep 21;13:240. Epub 2012 Sep 21.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, Nagasaki, 852-8523, Japan.

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September 2012

Clinical and molecular analysis of synchronous double lung cancers.

Lung Cancer 2012 Aug 3;77(2):281-7. Epub 2012 May 3.

Division of Surgical Oncology, Department of Translational Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, Nagasaki 852-8501, Japan.

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August 2012

Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization.

Radiat Oncol 2011 Dec 7;6:168. Epub 2011 Dec 7.

Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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December 2011

[Nakajo-Nishimura syndrome].

Nihon Rinsho Meneki Gakkai Kaishi 2011 ;34(5):388-400

Department of Dermatology, Wakayama Medical University.

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February 2012

Agile parallel bioinformatics workflow management using Pwrake.

BMC Res Notes 2011 Sep 8;4:331. Epub 2011 Sep 8.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, Nagasaki, Japan.

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September 2011