NIIDA Yo

FacultyDepartment of Advanced Medicine
PositionProfessor

Researcher Profile & Settings

Research

    Overview of research:
    The study of genetic disease revealed directly how human gene mutation or genomic structural anomaly affects human body functions, and not only provides diagnosis and therapy to rare disease, but reconstructs human being through functional genome network. In division of genomic medicine, we provide chromosomal analysis (G-banding, FISH and DNA microarray) and many gene tests (more than 100 genes and 70 diseases) for hereditary diseases. Also, we are developing simple and effective gene analysis methods and studying for how gene mutation affects to cell function and human body.

Education

  • Kanazawa University Graduate School

Degree

  • Ph.D in Medicine

Association Memberships

  • 20142015Japan Pediatric Society
  • 2009The Japanese society of child neurology
  • 2002The Japanese society of human genetics

Research Activities

Research Areas

  • Medicine,dentistry, and pharmacy / Genome science / Pathology of the human genome system
    Research Project: Analysis of the human genome system from the viewpoint of birth defects
  • Medicine,dentistry, and pharmacy / Genome science
    Research Project: Clinical genomics

Published Papers

  • Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants., (Hata Yukiko);Oku Yuko;Taneichi Hiromichi;Tanaka Tomomi;Igarashi Noboru;Niida Yo;Nishida Naoki, Brain & development42:171-1782020
  • Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern, Niida, Yo;Ozaki, Mamoru;Shimizu, Masaki;Ueno, Kazuyuki;Tanaka, Tomomi, CYTOGENETIC AND GENOME RESEARCH154:137-1462018
  • Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model., Y. Niida, M. Inoue, M. Ozaki, E Takase, Cytogenetic and Genome Research153:56-65Jan. 2018
  • Diffusion tensor imaging and magnetic resonance spectroscopy in a patient with adult onset tuberous sclerosis complex, Ishikawa, Hidehiro;Niwa, Atsushi;Asahi, Masaru;Matsuura, Keita;Masuzugawa, Satoshi;Niida, Yo;Maeda, Masayuki;Kondo, Mineo;Tomimoto, Hidekazu, JOURNAL OF CLINICAL NEUROSCIENCE48:108-110Feb. 2018
  • Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases, Bo, Ryosuke;Yamada, Kenji;Kobayashi, Hironori;Jamiyan, Purevsuren;Hasegawa, Yuki;Taketani, Takeshi;Fukuda, Seiji;Hata, Ikue;Niida, Yo;Shigematsu, Yosuke;Iijima, Kazumoto;Yamaguchi, Seiji, JOURNAL OF HUMAN GENETICS62:809-814Sep. 2017
  • A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome, Niida, Yo;Mitani, Yusuke;Kuroda, Mondo;Yokoi, Ayano;Nakagawa, Hiroyasu;Kato, Akiko, CONGENITAL ANOMALIES57:86-88May 2017
  • Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report, Y.Yasui,M.Kohno,S.Nishida,T.Shironomae,M.Satomi, T.Kuwahara, S.Takahashi, Y.Niida, CONGENITAL ANOMALIES57:32-34Jan. 2017
  • Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1, Niida, Yo;Yokoi, Ayano;Kuroda, Mondo;Mitani, Yusuke;Nakagawa, Hiroyasu;Ozaki, Mamoru, BRAIN & DEVELOPMENT39:184-185Feb. 2017
  • A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1., Y.Niida, A.Yokoi, M.Kuroda, Y.Mitani, H.Nakagawa, M.Ozaki, Brain & development38:674-6772016
  • A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family, M.Itoh, Y.Kittaka, Y.Niida, Y.Saikawa, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology25:115-1182016
  • Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature, Y.Niida, H.Sato, M.Ozaki, M.Itoh, K.Ikeno, E.Takase, Cytogenetic and genome research149:247-2572016
  • Oxytocin for male subjects with autism spectrum disorder and comorbid intellectual disabilities: A randomized pilot study, (T.Munesue), H.Nakamura, M.Kikuchi, Y.Miura, N.Takeuchi, T.Anme, E.Nanba, K.Adachi, K.Tsubouchi, Y.Sai, K.Miyamoto, S.Horike, S.Yokoyama, H.Nakatani, Y.Niida, H.Kosaka, Y.Minabe, H.Higashida, Frontiers in psychiatry7:1-112016
  • A girl with greig cephalopolysyndactyly contiguous gene deletion syndrome: The importance and usefulness of DNA microarray analysis, Y.Niida, M.Ozaki, E.Takase, T.Yokoyama, S.Yamada, Hereditary GeneticsS7:1-3Oct. 2015
  • CHIPS for a mutation screening of a large sized gene: An example of NF2 analysis, Y.Niida, Pharmaceutia Analytica Acta6:440-440Nov. 2015
  • CHIPS for genetic testing to improve a regional clinical genetic service, Y.Niida, O.Ozaki, M.Inoue, E.Takase, M.Kuroda, Y.Mitani, A.Okumura, A.Yokoi, S.Fujita, K.Yamada, Clinical Genetics88:155-160Aug. 2015
  • CHIPS to disseminate the genetic testing of rare diseases, Y.Niida, Gene Technology4:127-127Sep. 2015
  • Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1., (A.Okumura), M.Ozaki, Y.Niida, Brain & Development37:677-689Aug. 2015
  • Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions, (N.Hatta), A.Takata, S.Ishizawa, Y.Niida, Journal of Dermatology42:1087-10902015
  • Finding gene mutations by the enzyme: Chips for a simple and highly sensitive enzyme mismatch cleavage method, Y.Niida, Enzyme Engineering4:131-131Oct. 2015
  • How do you analyze a mutation of the gene consisting of one hundred exons?, Y.Niida, Advanced Techniques in Biology & Medicine3:138-138Sep. 2015
  • Radiological diagnosis of a neonate with mucolipidosis II (I-cell disease), Y.Niida, Clinical Medical Image Library1:17-18Nov. 2015
  • Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome, (M.Kuroda), M.Shimizu, N.Inoue, I.Ikeno, H.Nakagawa, A.Yokoi, Y.Niida, M.Konishi, H.Kaneda, N.Igarashi, J.Yamahana, H.Taneichi, H.Kanegane, M.Ito, S.Saito, K.Furuichi, T.Wada, M.Nakagawa, H.Yokoyama, A.Yachie, Neurochemistry International85-86:24-302015
  • Development and Clinical Application of Mutation Screening Method “CHIPS”, Y.Niida, Journal of Kanazawa Medical University40:84-912015
  • An infant with recurrent convulsive seizures of 3 weeks duration: Questions, (Shimizu, Masaki);Niida, Yo;Koizumi, Shoichi;Yachie, Akihiro, PEDIATRIC NEPHROLOGY29:1951-1955Jan. 2014
  • Intermittent X-Linked Thrombocytopenia With a Novel WAS Gene Mutation, (Wada, Taizo);Itoh, Masatsune;Maeba, Hideaki;Toma, Tomoko;Niida, Yo;Saikawa, Yutaka;Yachie, Akihiro, PEDIATRIC BLOOD & CANCER61:746-748Jan. 2014
  • Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation., N.Hayashi, H.Okuyama, Y.Matsui, H.Yamaya, E.Kinoshita, H.Minato, Y.Niida, H.Yokoyama, Clinical kidney journal.6:295-299Mar. 2013
  • Anterior prefrontal hemodynamic connectivity in conscious 3- to 7-year-old children with typical development and autism spectrum disorder., (M.Kikuchi), Y.Yoshimura, K.Shitamichi, S.Ueno, H.Hiraishi, T.Minesue, T.Hirosawa, Y.Ono, T.Tsubokawa, Y.Inoue, M.Oi, Y.Niida, GB.Remijin, T.Takahashi, M.Suzuki, M.Higashida, Y.Minabe, PloS one8:e56087Feb. 2013
  • Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported., Y.Niida, A.Wakisaka, T.Tsuji, H.Yamada, M.Kuroda, Y.Mitani, A.Okumura, A.Yokoi, Journal of human genetics.58:216-225Apr. 2013
  • Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis, Yo Niida, Mondo Kuroda, Yusuke Mitani, Akiko Okumura, Ayano Yokoi, Molecular Genetics and Metabolism107:580-5852012
  • B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease), (Yokoi Ayano), Niida Yo, Kuroda Mondo, Imi-Hashida Yoko, Toma Tomoko, Yachie Akihiro, Pediatric research86:85-91Jul. 2019
  • Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia, (Ishijima Yuka), Iizuka Takashi, Kagami Kyosuke, Masumoto Sakiko, Nakade Kyohei, Mitani Yusuke, Niida Yo, Watanabe Atsushi, Yamazaki Rena, Ono Masanori, Fujiwara Hiroshi, Journal of Obstetrics and Gynaecology1606177:1606177Jan. 2020
  • A novel PHEX mutation associated with vitamin D-resistant rickets., (Sako Saori), Niida Yo, Shima Kosuke Robert, Takeshita Yumie, Ishii Kiyo-Aki, Takamura Toshinari, Human Genome Variation6:9Feb. 2019
  • Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family, (Shoji Tetsuaki), Konno Satoshi, Niida Yo, Ogi Takahiro, Suzuki Masaru, Shimizu Kaoruko, Hida Yasuhiro, Kaga Kichizo, Seyama Kuniaki, Naka Tomoaki, Matsuno Yoshihiro, Nishimura Masaharu, PLOS ONE14:e0212370Feb. 2019
  • Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex, (Kondo Takeshi), Niida Yo, Mizuguchi Masashi, Nagasaki Yasushi, Ueno Yasuhiro, Nishimura Akiyoshi, Legal medicine36:37-402019
  • Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration, Yasui Yoshitomo, Sato Hitoshi, Niida Yo, Kohno Miyuki, Congenital anomalies59:22-23Jan. 2019


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