Gen Nishimura
Saitama Medical University
24 Papers
19 Citations
Gen Nishimura is an academic researcher from Saitama Medical University. The author has contributed to research in topics: Medicine & Mutation. The author has an hindex of 5, co-authored 24 publications.
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Papers
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Giedre Grigelioniene,Hiroshi I. Suzuki,Fulya Taylan,Fatemeh Mirzamohammadi,Zvi Borochowitz,Ugur M. Ayturk,Shay Tzur,Eva Horemuzova,Eva Horemuzova,Anna Lindstrand,Anna Lindstrand,MaryAnn Weis,Gintautas Grigelionis,Anna Hammarsjö,Anna Hammarsjö,Elin Marsk,Ann Nordgren,Ann Nordgren,Magnus Nordenskjöld,Magnus Nordenskjöld,David R. Eyre,Matthew L. Warman,Gen Nishimura,Phillip A. Sharp,Tatsuya Kobayashi +24 more
TL;DR: In this article, a neomorphic seed region mutation in the chondrocyte-specific, super-enhancer-associated MIR140 gene encoding microRNA-140 (miR-140) in a novel autosomal dominant human skeletal dysplasia was reported.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Carlos Ferreira,Zhi-Jie Xia,Aurélie Clément,David A. Parry,Mariska Davids,Fulya Taylan,Prashant Sharma,Coleman T. Turgeon,Bernardo Blanco-Sánchez,Bobby G. Ng,Clare V. Logan,Lynne A. Wolfe,Benjamin D. Solomon,Megan T. Cho,Ganka Douglas,Daniel R. Carvalho,Heiko Bratke,Marte Gjøl Haug,Jennifer B. Phillips,Jeremy Wegner,Michael Tiemeyer,Kazuhiro Aoki,Ann Nordgren,Ann Nordgren,Anna Hammarsjö,Anna Hammarsjö,Angela L. Duker,Luis Rohena,Luis Rohena,Hanne B Hove,Jakob Ek,David H. Adams,Cynthia J. Tifft,Tito Onyekweli,Tara E. Weixel,Ellen Macnamara,Kelly Radtke,Zöe Powis,Dawn L. Earl,Melissa Gabriel,Alvaro H Serrano Russi,Lauren Brick,Mariya Kozenko,Emma Tham,Emma Tham,Kimiyo Raymond,John A. Phillips,George E. Tiller,William G. Wilson,Rizwan Hamid,May Christine V. Malicdan,Gen Nishimura,Giedre Grigelioniene,Giedre Grigelioniene,Andrew P. Jackson,Monte Westerfield,Michael B. Bober,William A. Gahl,Hudson H. Freeze +58 more
TL;DR: A specific heterozygousCOG4 substitution is defined as the molecular basis of Saul-Wilson syndrome, a rare skeletal dysplasia distinct from biallelic COG4-CDG.
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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
Yoshiro Suzuki,David Chitayat,Hirotake Sawada,Matthew A. Deardorff,Heather M. McLaughlin,Amber Begtrup,Kathryn Millar,Jennifer Harrington,Karen Chong,Maian Roifman,Katheryn Grand,Makoto Tominaga,Makoto Tominaga,Fumio Takada,Shirley Shuster,Megumi Obara,Hiroshi Mutoh,Reiko Kushima,Gen Nishimura +18 more
TL;DR: The results suggest that TNHP is an autosomal-recessive disease caused by TRPV6 mutations that affect maternal-fetal calcium transport and three missense variants that alter the localization of the TRpV6 are identified.
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Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
Yoshiro Suzuki,Yoshiro Suzuki,Yoshiro Suzuki,Hirotake Sawada,Tomoko Tokumasu,Shigeru Suzuki,Shinsuke Ninomiya,Masaru Shirai,Tokuo Mukai,Claire T. Saito,Gen Nishimura,Makoto Tominaga,Makoto Tominaga +12 more
TL;DR: Results indicate that the AR6 domain contributes to TRPV6-mediated maintenance of intracellular Ca 2+ concentrations, and that this region could play a novel role in regulating the activity of TRP V6 Ca 2 + -selective channels.
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Gabriela Ferraz Leal,Gen Nishimura,Ulrika Voss,Débora Romeo Bertola,Eva Åström,Johan Svensson,Guilherme L. Yamamoto,Anna Hammarsjö,Eva Horemuzova,Nikos Papadiogannakis,Erik Iwarsson,Giedre Grigelioniene,Emma Tham +12 more
TL;DR: The experience of six patients with biallelic pathogenic variants in PLOD2 expands the phenotypic spectrum in the PLOD1‐related phenotypes and presents six patients from four families with novel PLod2 variants.
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