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D-Index & Metrics

Biology and Biochemistry

D-Index
59
Citations
12700
World Ranking
12517
National Ranking
855

Overview

Yoko Aoki is affiliated with Tohoku University in Japan and has a body of research that spans various domains within biochemistry, genetics, molecular biology, and medicine. Their work is particularly concentrated in molecular biology and genetics, with additional focus areas including surgery, neurology, and immunology.

The scientist's research covers multiple main topics, such as:

  • Protein Tyrosine Phosphatases
  • Galectins and Cancer Biology
  • Vascular Malformations and Hemangiomas
  • Genomics and Rare Diseases
  • Cancer Genomics and Diagnostics
  • BRCA Gene Mutations in Cancer
  • Peptidase Inhibition and Analysis

Several recent papers illustrate the range of Yoko Aoki's research contributions. These include:

  • Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis, 2020, Gastroenterology
  • The molecular genetics of RASopathies: An update on novel disease genes and new disorders, 2022, American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain, 2020, Human Mutation
  • A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease, 2020, Journal of Human Genetics
  • Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans, 2021, Nature Communications

The scientist frequently publishes in specific venues which provide a context for their research interests and collaborations. The most common publication venues include:

  • Journal of Human Genetics
  • Molecular Genetics & Genomic Medicine
  • Research Square (Research Square)
  • American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Human Mutation

Yoko Aoki has collaborated extensively with several co-authors. Notable frequent collaborators include:

  • Tetsuya Niihori
  • Ryo Funayama
  • Keiko Nakayama
  • Matsuyuki Shirota
  • Masashi Aoki

Their multidisciplinary approach encompasses both fundamental molecular genetics and applied clinical genetics, reflecting in the diversity of publication venues and topics addressed. Research into rare diseases, various genetic mutations, and their clinical ramifications form a significant component of their scholarly output.

Best Publications

  • Germline mutations in HRAS proto-oncogene cause Costello syndrome

    Yoko Aoki;Tetsuya Niihori;Hiroshi Kawame;Kenji Kurosawa

  • A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

    Fumiaki Kamada;Yoko Aoki;Ayumi Narisawa;Yu Abe

  • Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

    Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  • The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

    Yoko Aoki;Tetsuya Niihori;Yoko Narumi;Shigeo Kure

  • Recent advances in RASopathies.

    Yoko Aoki;Tetsuya Niihori;Shin Ichi Inoue;Yoichi Matsubara

  • Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

    Yoko Aoki;Tetsuya Niihori;Toshihiro Banjo;Nobuhiko Okamoto

  • Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

    Caroline Nava;Nadine Hanna;Caroline Michot;Sabrina Pereira

  • Human genetic variation database, a reference database of genetic variations in the Japanese population.

    Koichiro Higasa;Noriko Miyake;Jun Yoshimura;Kohji Okamura

  • Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

    Takayuki Kudo;Shigeo Kure;Katsuhisa Ikeda;An Ping Xia

  • HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

    Karen W. Gripp;Angela E. Lin;Deborah L. Stabley;Linda Nicholson

  • Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

    Yoichi Suzuki;Yoko Aoki;Yoshinori Ishida;Yasushi Chiba

  • Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

    Tetsuya Niihori;Yoko Aoki;Hirofumi Ohashi;Kenji Kurosawa

  • Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

    Elisabetta Flex;Mamta Jaiswal;Francesca Pantaleoni;Simone Martinelli

  • Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

    Tomoko Kobayashi;Yoko Aoki;Tetsuya Niihori;Hélène Cavé

  • Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

    Ayumi Narisawa;Shoko Komatsuzaki;Atsuo Kikuchi;Tetsuya Niihori

  • Cross-antigenicity among EV71 strains from different genogroups isolated in Yamagata, Japan, between 1990 and 2007

    K. Mizuta;Y. Aoki;A. Suto;K. Ootani

  • Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

    Angela E. Lin;Mark E. Alexander;Steven D. Colan;Bronwyn Kerr

  • Overexpression of p27Kip1 lengthens the G1 phase in a mouse model that targets inducible gene expression to central nervous system progenitor cells.

    Takayuki Mitsuhashi;Yoko Aoki;Yoko Aoki;Yaman Z. Eksioglu;Yaman Z. Eksioglu;Takao Takahashi;Takao Takahashi

  • Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.

    Michito Namekawa;Yoshihisa Takiyama;Yoko Aoki;Norio Takayashiki

  • Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome†

    Yoko Narumi;Yoko Aoki;Tetsuya Niihori;Giovanni Neri

Frequent Co-Authors

Yoichi Matsubara
Yoichi Matsubara Tohoku University
Shigeo Kure
Shigeo Kure Tohoku University
Yoichi Suzuki
Yoichi Suzuki Chiba University
Keiko Nakayama
Keiko Nakayama Tohoku University
Hirofumi Ohashi
Hirofumi Ohashi Saitama Children's Medical Center
Nobuhiko Okamoto
Nobuhiko Okamoto Osaka University
Atsushi Masamune
Atsushi Masamune Tohoku University
Tooru Shimosegawa
Tooru Shimosegawa Tohoku University
Hirokazu Kimura
Hirokazu Kimura RMIT University
Hélène Cavé
Hélène Cavé Université Paris Cité

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