Faculty Profiles - OGI Tomoo

Papers - OGI Tomoo

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Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes Open Access

Kimura Hiroki, Nakatochi Masahiro, Aleksic Branko, Guevara James, Toyama Miho, Hayashi Yu, Kato Hidekazu, Kushima Itaru, Morikawa Mako, Ishizuka Kanako, Okada Takashi, Tsurusaki Yoshinori, Fujita Atsushi, Miyake Noriko, Ogi Tomoo, Takata Atsushi, Matsumoto Naomichi, Buxbaum Joseph, Ozaki Norio, Sebat Jonathan

TRANSLATIONAL PSYCHIATRY Vol. 12 ( 1 ) page： 265 2022.7

Language：English Publishing type：Research paper (scientific journal) Publisher：Translational Psychiatry

Autism spectrum disorder (ASD) is a highly heritable, complex disorder in which rare variants contribute significantly to disease risk. Although many genes have been associated with ASD, there have been few genetic studies of ASD in the Japanese population. In whole exomes from a Japanese ASD sample of 309 cases and 299 controls, rare variants were associated with ASD within specific neurodevelopmental gene sets, including highly constrained genes, fragile X mental retardation protein target genes, and genes involved in synaptic function, with the strongest enrichment in trans-synaptic signaling (p = 4.4 × 10−4, Q-value = 0.06). In particular, we strengthen the evidence regarding the role of ABCA13, a synaptic function-related gene, in Japanese ASD. The overall results of this case-control exome study showed that rare variants related to synaptic function are associated with ASD susceptibility in the Japanese population.

DOI： 10.1038/s41398-022-02033-6

The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice Open Access

Yamaguchi Naoya, Suzuki Atsushi, Yoshida Aya, Tanaka Tatsushi, Aoyama Kohei, Oishi Hisashi, Hara Yuichiro, Ogi Tomoo, Amano Izuki, Kameo Satomi, Koibuchi Noriyuki, Shibata Yasuhiro, Ugawa Shinya, Mizuno Haruo, Saitoh Shinji

SCIENTIFIC REPORTS Vol. 12 ( 1 ) page： 11259 2022.7

Language：English Publishing type：Research paper (scientific journal) Publisher：Scientific Reports

SLC26A4 is a known iodide transporter, and is localized at the apical membrane of thyrocytes. Previously, we reported that SLC26A7 is also involved in iodide transport and that Slc26a7 is a novel causative gene for congenital hypothyroidism. However, its detailed role in vivo remains to be elucidated. We generated mice that were deficient in Slc26a7 and Slc26a4 to delineate differences and associations in their roles in iodide transport. Slc26a7−/− mice showed goitrous congenital hypothyroidism and mild growth failure on a normal diet. Slc26a7−/− mice with a low iodine environment showed marked growth failure. In contrast, Slc26a4−/− mice showed no growth failure and hypothyroidism in the same low iodine environment. Double-deficient mice showed more severe growth failure than Slc26a7−/− mice. RNA-seq analysis revealed that the number of differentially expressed genes (DEGs) in Slc26a7−/− mice was significantly higher than that in Slc26a4−/− mice. These indicate that SLC26A7 is more strongly involved in iodide transport and the maintenance of thyroid function than SLC26A4.

DOI： 10.1038/s41598-022-15151-4

Case of ichthyosis with confetti caused by KRT10 mutation, complicated with multiple malignant melanomas. International journal

Yasutoshi Ito, Takuya Takeichi, Koichi Nakagawa, Kana Tanahashi, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

The Journal of dermatology Vol. 49 ( 7 ) page： E228 - E229 2022.7

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2. International journal Open Access

Yuika Suzuki, Takuya Takeichi, Kana Tanahashi, Yoshinao Muro, Yasushi Suga, Tomoo Ogi, Masashi Akiyama

International journal of molecular sciences Vol. 23 ( 14 ) 2022.7

Language：English Publishing type：Research paper (scientific journal)

Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with SEI caused by a hotspot mutation, p.Glu487Lys, in KRT2. In addition, we summarize previous reports on SEI patients with the identical mutation. One of the two patients had disease onset at the age of 7 months. The other patient's age of onset is unknown, but it was in childhood. Neither of the two patients showed erythroderma. To perform deep phenotyping, we studied the age of onset and the frequency of erythroderma in 34 reported SEI cases with the p.Glu487Lys mutation, including the present cases. Among the cases with sufficient clinical information, 44.4% of the cases that were due to p.Glu487Lys in KRT2 occurred at birth. Erythroderma was observed in 11.1% of the cases with p.Glu487Lys in KRT2.

DOI： 10.3390/ijms23147791

Detection of antiviral drug resistance in patients with congenital cytomegalovirus infection using long-read sequencing: a retrospective observational study Open Access

Torii Yuka, Horiba Kazuhiro, Kawada Jun-ichi, Haruta Kazunori, Yamaguchi Makoto, Suzuki Takako, Uryu Hideko, Kashiwa Naoyuki, Goishi Keiji, Ogi Tomoo, Ito Yoshinori

BMC INFECTIOUS DISEASES Vol. 22 ( 1 ) page： 568 2022.6

Language：English Publishing type：Research paper (scientific journal) Publisher：BMC Infectious Diseases

Background: Congenital human cytomegalovirus (cCMV) infection can cause sensorineural hearing loss and neurodevelopmental disabilities in children. Ganciclovir and valganciclovir (GCV/VGCV) improve long-term audiologic and neurodevelopmental outcomes for patients with cCMV infection; however, antiviral drug resistance has been documented in some cases. Long-read sequencing can be used for the detection of drug resistance mutations. The objective of this study was to develop full-length analysis of UL97 and UL54, target genes with mutations that confer GCV/VGCV resistance using long-read sequencing, and investigate drug resistance mutation in patients with cCMV infection. Methods: Drug resistance mutation analysis was retrospectively performed in 11 patients with cCMV infection treated with GCV/VGCV. UL97 and UL54 genes were amplified using blood DNA. The amplicons were sequenced using a long-read sequencer and aligned with the reference gene. Single nucleotide variants were detected and replaced with the reference sequence. The replaced sequence was submitted to a mutation resistance analyzer, which is an open platform for drug resistance mutations. Results: Two drug resistance mutations (UL54 V823A and UL97 A594V) were found in one patient. Both mutations emerged after 6 months of therapy, where viral load increased. Mutation rates subsided after cessation of GCV/VGCV treatment. Conclusions: Antiviral drug resistance can emerge in patients with cCMV receiving long-term therapy. Full-length analysis of UL97 and UL54 via long-read sequencing enabled the rapid and comprehensive detection of drug resistance mutations.

DOI： 10.1186/s12879-022-07537-6

Expanding the phenotypic spectrum of ARCN1-related syndrome Open Access

Ritter Alyssa L., Gold Jessica, Hayashi Hiroshi, Ackermann Amanda M., Hanke Stephanie, Skraban Cara, Cuddapah Sanmati, Bhoj Elizabeth, Li Dong, Kuroda Yukiko, Wen Jessica, Takeda Ryojun, Bibb Audrey, El Chehadeh Salima, Piton Amelie, Ohl Jeanine, Kukolich Mary K., Nagasaki Keisuke, Kato Kohji, Ogi Tomoo, Bhatti Tricia, Russo Pierre, Krock Bryan, Murrell Jill R., Sullivan Jennifer A., Shashi Vandana, Stong Nicholas, Hakonarson Hakon, Sawano Kentaro, Torti Erin, Willaert Rebecca, Si Yue, Wilcox William Ross, Wirgenes Katrine Verena, Thomassen Kristian, Carlotti Katherine, Erwin Angelika, Lazier Joanna, Marquardt Thorsten, He Miao, Edmondson Andrew C., Izumi Kosuke

GENETICS IN MEDICINE Vol. 24 ( 6 ) page： 1227 - 1237 2022.6

Language：English Publishing type：Research paper (scientific journal) Publisher：Genetics in Medicine

Purpose: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. Methods: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient. Results: In total, we identified 14 cases of ARCN1-related syndrome, (9 pediatrics, and 5 fetal cases from 3 families). The clinical features these newly identified cases were compared to 6 previously reported cases for a total of 20 cases. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%). Novel features of ARCN1-related syndrome included transient liver dysfunction and specific glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, cataracts, and lethal skeletal manifestations. Developmental delay was seen in 73% of patients, but only 3 patients had intellectual disability, which is less common than previously reported. Conclusion: ARCN1-related syndrome presents with a wide clinical spectrum ranging from a severe embryonic lethal syndrome to a mild syndrome with intrauterine growth restriction, micrognathia, and short stature without intellectual disability. Patients with ARCN1-related syndrome should be monitored for liver dysfunction during illness, cataracts, and hepatoblastoma. Additional research to further define the phenotypic spectrum and possible genotype–phenotype correlations are required.

DOI： 10.1016/j.gim.2022.02.005

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経過観察中に水疱性類天疱瘡を発症した、MV遺伝子変異を有する高齢発症の汗孔角化症の2例

有沢友希, 武市拓也, 伊藤靖敏, 棚橋華奈, 室慶直, 荻朋男, 秋山真志

加齢皮膚医学セミナー Vol. 17 ( 1 ) page： 74 - 75 2022.6

経過観察中に水疱性類天疱瘡を発症した、MV遺伝子変異を有する高齢発症の汗孔角化症の2例

有沢友希, 武市拓也, 伊藤靖敏, 棚橋華奈, 室慶直, 荻朋男, 秋山真志

加齢皮膚医学セミナー Vol. 17 ( 1 ) page： 74 - 75 2022.6

Epithelioid cell granuloma formation in CARD14-associated papulosquamous eruptions. International journal

Takuya Takeichi, Kenta Ikeda, Yoshinao Muro, Tomoo Ogi, Shin Morizane, Masashi Akiyama

Journal of the European Academy of Dermatology and Venereology : JEADV Vol. 36 ( 5 ) page： E369 - E371 2022.5

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Open Access

Stephenson Sarah E. M., Costain Gregory, Blok Laura E. R., Silk Michael A., Nguyen Thanh Binh, Dong Xiaomin, Alhuzaimi Dana E., Dowling James J., Walker Susan, Amburgey Kimberly, Hayeems Robin Z., Rodan Lance H., Schwartz Marc A., Picker Jonathan, Lynch Sally A., Gupta Aditi, Rasmussen Kristen J., Schimmenti Lisa A., Klee Eric W., Niu Zhiyv, Agre Katherine E., Chilton Ilana, Chung Wendy K., Revah-Politi Anya, Au P. Y. Billie, Griffith Christopher, Racobaldo Melissa, Raas-Rothschild Annick, Ben Zeev Bruria, Barel Ortal, Moutton Sebastien, Morice-Picard Fanny, Carmignac Virginie, Cornaton Jenny, Marle Nathalie, Devinsky Orrin, Stimach Chandler, Wechsler Stephanie Burns, Hainline Bryan E., Sapp Katie, Willems Marjolaine, Bruel Angeline, Dias Kerith-Rae, Evans Carey-Anne, Roscioli Tony, Sachdev Rani, Temple Suzanna E. L., Zhu Ying, Baker Joshua J., Scheffer Ingrid E., Gardiner Fiona J., Schneider Amy L., Muir Alison M., Mefford Heather C., Crunk Amy, Heise Elizabeth M., Millan Francisca, Monaghan Kristin G., Person Richard, Rhodes Lindsay, Richards Sarah, Wentzensen Ingrid M., Cogne Benjamin, Isidor Bertrand, Nizon Mathilde, Vincent Marie, Besnard Thomas, Piton Amelie, Marcelis Carlo, Kato Kohji, Koyama Norihisa, Ogi Tomoo, Goh Elaine Suk-Ying, Richmond Christopher, Amor David J., Boyce Jessica O., Morgan Angela T., Hildebrand Michael S., Kaspi Antony, Bahlo Melanie, Fridriksdottir Run, Katrinardottir Hildigunnur, Sulem Patrick, Stefansson Kari, Bjornsson Hans Tomas, Mandelstam Simone, Morleo Manuela, Mariani Milena, Scala Marcello, Accogli Andrea, Torella Annalaura, Capra Valeria, Wallis Mathew, Jansen Sandra, Waisfisz Quinten, de Haan Hugoline, Sadedin Simon, Lim Sze Chern, White Susan M., Ascher David B., Schenck Annette, Lockhart Paul J., Christodoulou John, Tan Tiong Yang

AMERICAN JOURNAL OF HUMAN GENETICS Vol. 109 ( 4 ) page： 601 - 617 2022.4

Language：English Publishing type：Research paper (scientific journal) Publisher：American Journal of Human Genetics

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate cell-cycle progression and cell growth and survival by targeting substrates including CYCLIN E1/2 and NOTCH for degradation via the ubiquitin proteasome system. We used a genotype-first approach and global data-sharing platforms to identify 35 individuals harboring de novo and inherited FBXW7 germline monoallelic chromosomal deletions and nonsense, frameshift, splice-site, and missense variants associated with a neurodevelopmental syndrome. The FBXW7 neurodevelopmental syndrome is distinguished by global developmental delay, borderline to severe intellectual disability, hypotonia, and gastrointestinal issues. Brain imaging detailed variable underlying structural abnormalities affecting the cerebellum, corpus collosum, and white matter. A crystal-structure model of FBXW7 predicted that missense variants were clustered at the substrate-binding surface of the WD40 domain and that these might reduce FBXW7 substrate binding affinity. Expression of recombinant FBXW7 missense variants in cultured cells demonstrated impaired CYCLIN E1 and CYCLIN E2 turnover. Pan-neuronal knockdown of the Drosophila ortholog, archipelago, impaired learning and neuronal function. Collectively, the data presented herein provide compelling evidence of an F-Box protein-related, phenotypically variable neurodevelopmental disorder associated with monoallelic variants in FBXW7.

DOI： 10.1016/j.ajhg.2022.03.002

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Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations

Takeuchi S., Takeichi T., Koike Y., Takama H., Tanahashi K., Okuno Y., Ishii N., Muro Y., Ogi T., Suga Y., Akiyama M.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY Vol. 36 ( 3 ) page： E215 - E218 2022.3

Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee: Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee. International journal

Akira Iwanaga, Atsushi Utani, Yuta Koike, Yumi Okubo, Yutaka Kuwatsuka, Yuichiro Endo, Hideaki Tanizaki, Mari Wataya-Kaneda, Atsushi Hatamochi, Kosuke Minaga, Tomoo Ogi, Yosuke Yamamoto, Satoshi Ikeda, Eiko Tsuiki, Hiroshi Tamura, Koji Maemura, Takashi Kitaoka, Hiroyuki Murota

The Journal of dermatology Vol. 49 ( 3 ) page： e91-e98 - e98 2022.1

Language：English Publishing type：Research paper (scientific journal)

Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease that affects tissues such as the skin, retina, blood vessels, and gastrointestinal tracts. Therefore, comprehensive medical care across clinical departments specialized in specific organs is needed to provide the best clinical practices to PXE patients. The Japanese version of clinical guidelines developed by the Japanese Dermatological Association was published in 2017, and aimed to promote equal accessibility of PXE-related medical care. Here, the English version of Japanese guideline is reported, and is intended to be worldwide reference for medical care of PXE.

DOI： 10.1111/1346-8138.16301

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PubMed

Subtle infantile spasms presenting as hyperirritability in CK syndrome

Hagiwara Sho, Shiohama Tadashi, Ogi Tomoo, Ichikawa Tomohiko, Hamada Hiromichi

PEDIATRICS INTERNATIONAL Vol. 64 ( 1 ) page： e15335 2022.1

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels Open Access

Toyama Miho, Takasaki Yuto, Branko Aleksic, Kimura Hiroki, Kato Hidekazu, Nawa Yoshihiro, Kushima Itaru, Ishizuka Kanako, Shimamura Teppei, Ogi Tomoo, Ozaki Norio

PLOS ONE Vol. 17 ( 5 ) page： e0268321 2022

Language：English Publishing type：Research paper (scientific journal) Publisher：PLoS ONE

Background Most sequencing studies of schizophrenia (SCZ) have focused on de novo genetic variants due to interpretability. However, investigating shared rare variants among patients in the same multiplex family is also important. Relatively large-scale analyses of SCZ multiplex families have been done in Caucasian populations, but whether detected variants are also pathogenic in the Japanese population is unclear because of ethnic differences in rare variants. Materials and methods We performed whole-exome sequencing (WES) of 14 Japanese SCZ multiplex families. After quality control and filtering, we identified rare variants shared among affected persons within the same family. A gene ontology (GO) analysis was performed to identify gene categories possibly affected by these candidate variants. Results We found 530 variants in 486 genes as potential candidate variants from the 14 SCZ multiplex families examined. The GO analysis demonstrated significant enrichment in calcium channel activity. Conclusion This study provides supporting evidence that calcium ion channel activity is involved in SCZ. WES of multiplex families is a potential means of identifying disease-associated rare variants for SCZ.

DOI： 10.1371/journal.pone.0268321

Next-Generation Sequencing to Detect Pathogens in Pediatric Febrile Neutropenia: A Single-Center Retrospective Study of 112 Cases Open Access

Kazuhiro Horiba, Yuka Torii, Toshihiko Okumura, Suguru Takeuchi, Takako Suzuki, Jun-ichi Kawada, Hideki Muramatsu, Yoshiyuki Takahashi, Tomoo Ogi, Yoshinori Ito

Open Forum Infectious Diseases Vol. 8 ( 11 ) page： ofab223 2021.11

Language：English Publishing type：Research paper (scientific journal) Publisher：Oxford University Press (OUP)

<title>Abstract</title>
<sec>
<title>Background</title>
Febrile neutropenia (FN) is a frequent complication in immunocompromised patients. However, causative microorganisms are detected in only 10% of patients. This study aimed to detect the microorganisms that cause FN using next-generation sequencing (NGS) to idenjpgy the genome derived from pathogenic microorganisms in the bloodstream. Here, we implemented a metagenomic approach to comprehensively analyze microorganisms present in clinical samples from patients with FN.

</sec>
<sec>
<title>Methods</title>
FN is defined as 1) a neutrophil count &lt; 500/µL, and 2) fever ≥ 37.5 °C. Plasma/serum samples of 112 pediatric patients with FN, 10 patients with neutropenia without fever (NE), were sequenced by NGS and analyzed by a metagenomic pipeline PATHDET.

</sec>
<sec>
<title>Results</title>
The putative pathogens were detected by NGS in 5 of 10 patients with FN with positive for blood culture results, 15 of 87 patients (17%) with negative for blood culture results, and 3 of 8 patients with NE. Several bacteria that were common in the oral, skin, and gut flora were commonly detected in blood samples, suggesting translocation of the human microbiota to the bloodstream in the setting of neutropenia. The cluster analysis of the microbiota in blood samples using NGS demonstrated that the representative bacteria of each cluster was mostly consistent with the pathogens in each patient.

</sec>
<sec>
<title>Conclusions</title>
NGS technique has a great potential for detecting causative pathogens in patients with FN. Cluster analysis, which extracts characteristic microorganisms from a complex microbial population, may be effective to detect pathogens in minute quantities of microbiota, such as those from the bloodstream.

</sec>

DOI： 10.1093/ofid/ofab223

Extensive multiple organ involvement in VEXAS syndrome Open Access

Noriyuki Takahashi, Takuya Takeichi, Tetsuya Nishida, Yasuhiro Takahashi, Juichi Sato, Masahiro Yamamura, Tomoo Ogi, Masashi Akiyama

Arthritis & Rheumatology Vol. 73 ( 10 ) page： 1896 - 1897 2021.10

Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome

Murase C., Takeichi T., Taki T., Yoshikawa T., Suzuki A., Ogi T., Suga Y., Akiyama M.

JOURNAL OF INVESTIGATIVE DERMATOLOGY Vol. 141 ( 10 ) page： S177 - S177 2021.10

Dealing with transcription-blocking DNA damage: Repair mechanisms, RNA polymerase II processing and human disorders Open Access

Jia Nan, Guo Chaowan, Nakazawa Yuka, Heuvel Diana van den, Luijsterburg Martijn S., Ogi Tomoo

DNA REPAIR Vol. 106 page： 103192 2021.10

Language：Japanese Publishing type：Research paper (scientific journal) Publisher：DNA Repair

Transcription-blocking DNA lesions (TBLs) in genomic DNA are triggered by a wide variety of DNA-damaging agents. Such lesions cause stalling of elongating RNA polymerase II (RNA Pol II) enzymes and fully block transcription when unresolved. The toxic impact of DNA damage on transcription progression is commonly referred to as transcription stress. In response to RNA Pol II stalling, cells activate and employ transcription-coupled repair (TCR) machineries to repair cytotoxic TBLs and resume transcription. Increasing evidence indicates that the modification and processing of stalled RNA Pol II is an integral component of the cellular response to and the repair of TBLs. If TCR pathways fail, the prolonged stalling of RNA Pol II will impede global replication and transcription as well as block the access of other DNA repair pathways that may act upon the TBL. Consequently, such prolonged stalling will trigger profound genome instability and devastating clinical features. In this review, we will discuss the mechanisms by which various types of TBLs are repaired by distinct TCR pathways and how RNA Pol II processing is regulated during these processes. We will also discuss the clinical consequences of transcription stress and genotype-phenotype correlations of related TCR-deficiency disorders.

DOI： 10.1016/j.dnarep.2021.103192

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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy Open Access

Botta Elena, Theil Arjan F., Raams Anja, Caligiuri Giuseppina, Giachetti Sarah, Bione Silvia, Accadia Maria, Lombardi Anita, Smith Desiree E. C., Mendes Marisa I, Swagemakers Sigrid M. A., Van der Spek Peter J., Salomons Gajja S., Hoeijmakers Jan H. J., Yesodharan Dhanya, Nampoothiri Sheela, Ogi Tomoo, Lehmann Alan R., Orioli Donata, Vermeulen Wim

HUMAN MOLECULAR GENETICS Vol. 30 ( 18 ) page： 1711 - 1720 2021.9

Language：Japanese Publishing type：Research paper (scientific journal) Publisher：Human Molecular Genetics

Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails and scaly skin, but with otherwise remarkably variable clinical features. The photosensitive TTD (PS-TTD) forms exhibits in addition to progressive neuropathy and other features of segmental accelerated aging and is associated with impaired genome maintenance and transcription. New factors involved in various steps of gene expression have been identified for the different non-photosensitive forms of TTD (NPS-TTD), which do not appear to show features of premature aging. Here, we identify alanyl-tRNA synthetase 1 and methionyl-tRNA synthetase 1 variants as new gene defects that cause NPS-TTD. These variants result in the instability of the respective gene products alanyl- and methionyl-tRNA synthetase. These findings extend our previous observations that TTD mutations affect the stability of the corresponding proteins and emphasize this phenomenon as a common feature of TTD. Functional studies in skin fibroblasts from affected individuals demonstrate that these new variants also impact on the rate of tRNA charging, which is the first step in protein translation. The extension of reduced abundance of TTD factors to translation as well as transcription redefines TTD as a syndrome in which proteins involved in gene expression are unstable.

DOI： 10.1093/hmg/ddab123

Cutaneous malignant melanoma in an elderly patient with intermediate junctional epidermolysis bullosa. International journal Open Access

Yuta Yamashita, Tomoki Taki, Takuya Takeichi, Mao Okumura, Shoichiro Mori, Yasutoshi Ito, Tomoo Ogi, Motohito Yamada, Masashi Akiyama

The Journal of dermatology Vol. 48 ( 8 ) page： E384 - E385 2021.8

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Papers - OGI Tomoo