Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis
Natsuki Nakamura, Yosuke Nishio, Hiromi Nyuzuki, Ai Fukushima et autres
0 citationsMolecular Genetics & Genomic Medicine
Tomoo Ogi
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217Publications signalées
8590Citations signalées
1Affiliations récentes
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Domaines associés
DNA Repair MechanismsSkin and Cellular Biology ResearchRNA modifications and cancerCRISPR and Genetic EngineeringCarcinogens and Genotoxicity Assessment
Publications récentes
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Toshihiko Iwaki, Yosuke Nishio, Sachiyo Takagi, Keiichiro Fujii et autres
0 citationsHuman Genome Variation
Gerstmann–Sträussler–Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bands
Miwa Ito, Hiroki Masuda, Marie Morooka, Atsuhiko Sugiyama et autres
0 citationsMultiple Sclerosis Journal
240 Digenic inheritance of SERPINA12 and SERPINB7 in Nagashima-type palmoplantar keratoderma, prevalent pEDD in East Asia
Aoi Ebata, Takuya Takeichi, Kazuki Nishida, Basile Chrétien et autres
0 citationsJournal of Investigative Dermatology
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador, Laura Duffy et autres
0 citationsmedRxiv
TLR7 Variants Enhance Responsiveness and Broaden RNA Specificity To Drive Human Lupus
Asuka Takayama, Kazuyuki Meguro, Takuma Shibata, Fumiya Yamaide et autres
0 citationsmedRxiv
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation–group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy
Yuka Nakazawa, Lin Ye, Yasuyoshi Oka, Hironobu Morinaga et autres
0 citationsDOAJ (DOAJ: Directory of Open Access Journals)
A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12
Yohei Iguchi, Koyo Tsujikawa, Ayuka Murakami, Kodai Kume et autres
0 citationsInternal Medicine
MVD ‐Nonsyndromic Epidermal Differentiation Disorder With a Previously Unreported Splice Variant in MVD Followed by Bullous Pemphigoid
Akira Miyazaki, Takuya Takeichi, Norito Ishii, Tomoo Ogi et autres
0 citationsThe Journal of Dermatology
XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit
Hiva Fassihi, Shehla Mohammed, Yuka Nakazawa, Heather Fawcett et autres
5 citationsJournal of Clinical Investigation
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation–group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy
Yuka Nakazawa, Lin Ye, Yasuyoshi Oka, Hironobu Morinaga et autres
4 citationsJournal of Clinical Investigation
Transient Dietary Intervention Induces Healthy Adipose Tissue Expansion and Metabolically Healthy Obesity in Mice
Eri Wada, Hirotaka Hosono, Miyako Tanaka, Fumi Miyakawa et autres
6 citationsThe FASEB Journal
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