[2024]

Filatov NS, Khismatullin RR, Bilyalov AI, Khabirova AI, Salyakhutdinova SM, Ursan RV, Kasimova RN, Peshkova AD, Gazizov II, Shagimardanova EI, Woroncow MV, Kiyasov AP, Litvinov RI, Gusev OA.
Distinct Hemostasis and Blood Composition in Spiny Mouse Acomys cahirinus.
Int J Mol Sci. 2024 Nov 29;25(23):12867.

Imasawa T, Murayama K, Hirano D, Nozu K.
Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.
Clin Exp Nephrol. 2024 Dec 3. doi: 10.1007/s10157-024-02554-y. Online ahead of print.

Paran FJ, Oyama R, Khasawneh A, Ai T, Ismanto HS, Sherif AA, Saputri DS, Ono C, Saita M, Takei S, Horiuchi Y, Yagi K, Matsuura Y, Okazaki Y, Takahashi K, Standley DM, Tabe Y, Naito T.
BCR, not TCR, repertoire diversity is associated with favorable COVID-19 prognosis.
Front Immunol. 2024 Oct 28;15:1405013.

Fujii Y, Matsumura H, Murayama K, Okazaki Y, Ashida A.
Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1.
CEN Case Rep. 2024 Nov 11. doi: 10.1007/s13730-024-00948-1. Online ahead of print.

Kishita Y, Sugiura A, Omichi N, Shimura M, Yatsuka Y, Nakamura K, Tanaka T, Kubota M, Murayama K, Ohtake A, Okazaki Y.
Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.
Liver Int. 2024 Nov 7. doi: 10.1111/liv.16148. Online ahead of print.

Takao A, Yamaguchi T, Eguchi H, Okazaki Y, Ishikawa H, Akagi K, Ishida H.
Genetic Testing of Japanese Patients with Serrated Polyposis Syndrome: A Multicentric Study.
J Anus Rectum Colon. 2024 Oct 25;8(4):348-355.

Kravchik M, Subbot A, Bilyalov A, Novikov I, Deviatiiarov R, Yusef Y, Gusev O.
Neodymium-Facilitated Visualization of Extreme Phosphate Accumulation in Fibroblast Filopodia: Implications for Intercellular and Cell-Matrix Interactions.
Int J Mol Sci. 2024 Oct 15;25(20):11076.

Yevshin IS, Shagimardanova EI, Ryabova AS, Pintus SS, Kolpakov FA, Gusev OA.
Genome of Russian Snow-White Chicken Reveals Genetic Features Associated with Adaptations to Cold and Diseases.
Int J Mol Sci. 2024 Oct 15;25(20):11066.

Ozaki K, Yatsuka Y, Oyazato Y, Nishiyama A, Nitta KR, Kishita Y, Fushimi T, Shimura M, Noma S, Sugiyama Y, Tagami M, Fukunaga M, Kinoshita H, Hirata T, Suda W, Murakawa Y, Carninci P, Ohtake A, Murayama K, Okazaki Y.
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
NPJ Genom Med. 2024 Oct 25;9(1):48.

Jokinen TS, Mottaghitalab F, Takan I, Salokorpi N, Raman A, Stevens I, Iivanainen A, Yoshihara M, Gusev O, Bannasch D, Sukura A, Schoenebeck JJ; DoGA Consortium; Ezer S, Katayama S, Daub CO, Kere J, Lohi H.
The DoGA consortium expression atlas of promoters and genes in 100 canine tissues.
Hörtenhuber M, Hytönen MK, Mukarram AK, Arumilli M, Araujo CL, Quintero I, Syrjä P, Airas N, Kaukonen M, Kyöstilä K, Niskanen J,
Nat Commun. 2024 Oct 21;15(1):9082.

Bilyalova A, Shagimardanova E, Bilyalov A, Zaripova M, Shigapova L, Gazizova G, Mazin P, Tatiana B, Gusev O.
Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis.
Front Neurol Rep. 2024 Oct 4;15:1400989.

Murofushi Y, Ochiai K, Yasukochi M, Sano K, Ichimoto K, Murayama K, Okazaki Y, Omata T, Takanashi JI.
Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome.
Radiol Case Rep. 2024 Sep 24;19(12):6292-6296.

Omata T, Aoyama H, Murayama K, Takayanagi M, Kawaguchi R, Fujimoto R, Takanashi JI.
Efficacy of a mitochondrial drug cocktail in preventing acute encephalopathy with biphasic seizures and late reduced diffusion.
J Neurol Sci. 2024 Sep 17;466:123245. doi: 10.1016/j.jns.2024.123245.

Yan J, Wu L, Zheng M, Lv Y, Jiang F, Gao W, Pan F.
Mendelian Randomization Study Reveals a Predicted Relationship between Sensorineural Hearing Loss and Mitochondrial Proteins.
Otol Neurotol. 2024 Oct 1;45(9):e655-e663.

Takao M, Yamaguchi T, Eguchi H, Suzuki O, Mori Y, Chika N, Yamada T, Okazaki Y, Tomita N, Nomizu T, Momma T, Takayama T, Tanakaya K, Akagi K, Tanabe N, Ishida H.
Predictive modeling for the germline pathogenic variant of the APC gene in patients with adenomatous polyposis: proposing a new APC score.
Surg Today. 2024 Jul 6. doi: 10.1007/s00595-024-02894-y. Online ahead of print.

Bilyalova A, Bilyalov A, Filatov N, Shagimardanova E, Kiyasov A, Vorontsova M, Gusev O.
Non-classical animal models for studying adrenal diseases: advantages, limitations, and implications for research.
Lab Anim Res. 2024 Jun 19;40(1):25.

Saotome H, Yatsuka Y, Minowa O, Shinotsuka K, Tsuchida K, Hirose H, Dai K, Tokuno H, Hayakawa T, Hiranuma H, Hasegawa A, Nakatomi I, Okazaki A, Okazaki Y.
Microstripe pattern substrate consisting of alternating planar and nanoprotrusive regions improved hiPSC-derived cardiomyocytes’ unidirectional alignment and functional properties.
Biomed Mater. 2024 Jun 17;19(4).

Yano T, Takeda A, Murayama K.
A hidden cause of middle-aged onset heart failure with preserved ejection fraction: a GTPBP3 variant.
Eur Heart J. 2024 May 24:ehae309. doi: 10.1093/eurheartj/ehae309. Online ahead of print.

Kawabata-Iwakawa R, Iwasa N, Satoh K, Colinge J, Shimada M, Takeuchi S, Fujiwara H, Eguchi H, Oishi T, Sugiyama T, Suzuki M, Hasegawa K, Fujiwara K, Nishiyama M.
Prediction of response to promising first-line chemotherapy in ovarian cancer patients with residual peritoneal tumors: practical biomarkers and robust multiplex models.
Int J Clin Oncol. 2024 May 20. doi: 10.1007/s10147-024-02552-w. Online ahead of print.

Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Brain Commun. 2024 May 6;6(3):fcae160.

Volyanskaya AR, Akberdin IR, Kulyashov MA, Yevshin IS, Romanov MN, Shagimardanova EI, Gusev OA, Kolpakov FA.
A bird’s-eye overview of molecular mechanisms regulating feed intake in chickens-with mammalian comparisons.
Anim Nutr. 2024 Mar 13;17:61-74. doi: 10.1016/j.aninu.2024.01.008. eCollection 2024 Jun.
PMID: 38737579

Titova A, Nikolaev S, Bilyalov A, Filatov N, Brovkin S, Shestakov D, Khatkov I, Pismennaya E, Bondarev V, Antyuxina M, Shagimardanova E, Bodunova N, Gusev O.
Extreme Tolerance of Extraocular Muscles to Diseases and Aging: Why and How?
Int J Mol Sci. 2024 May 3;25(9):4985. doi: 10.3390/ijms25094985.

Sung AY, Guerra RM, Steenberge LH, Alston CL, Murayama K, Okazaki Y, Shimura M, Prokisch H, Ghezzi D, Torraco A, Carrozzo R, Rötig A, Taylor RW, Keck JL, Pagliarini DJ.
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Nat Metab. 2024 May 8. doi: 10.1038/s42255-024-01039-2. Online ahead of print.

Belott CJ, Gusev OA, Kikawada T, Menze MA.
Membraneless and Membrane-bound Organelles in an Anhydrobiotic Cell Line are Protected from Desiccation-induced Damage.
Cell Stress Chaperones.. 2024 Apr 10:S1355-8145(24)00064-6. doi: 10.1016/j.cstres.2024.04.002. Online ahead of print.

Ito T, Yamaguchi T, Kumamoto K, Suzuki O, Chika N, Kawakami S, Nagai T, Igawa T, Fujiyoshi K, Akagi Y, Arai T, Akagi K, Eguchi H, Okazaki Y, Ishida H.
Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome.
Int J Clin Oncol. 2024 Apr 14. doi: 10.1007/s10147-024-02518-y. Online ahead of print.

Mizutani K, Yoshida Y, Nakanishi E, Miyata Y, Tokumoto S, Fuse H, Gusev O, Kikuta S, Kikawada T.
A sodium-dependent trehalose transporter contributes to anhydrobiosis in insect cell line, Pv11.
Proc Natl Acad Sci U S A. 2024 Apr 2;121(14):e2317254121.

Xie M, Kaiser M, Gershtein Y, Schnyder D, Deviatiiarov R, Gazizova G, Shagimardanova E, Zikmund T, Kerckhofs G, Ivashkin E, Batkovskyte D, Newton PT, Andersson O, Fried K, Gusev O, Zeberg H, Kaiser J, Adameyko I, Chagin AS.
The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling.
Nat Commun. 2024 Mar 26;15(1):2367. doi: 10.1038/s41467-024-46030-3.

Borna NN, Kishita Y, Shimura M, Murayama K, Ohtake A, Okazaki Y.
Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.
Mitochondrion. 2024 Mar 2;76:101858. doi: 10.1016/j.mito.2024.101858. Online ahead of print.

Warashina T, Sato A, Hinai H, Shaikhutdinov N, Shagimardanova E, Mori H, Tamaki S, Saito M, Sanada Y, Sasaki Y, Shimada K, Dotsuta Y, Kitagaki T, Maruyama S, Gusev O, Narumi I, Kurokawa K, Morita T, Ebisuzaki T, Nishimura A, Koma Y, Kanai A.
Microbiome analysis of the restricted bacteria in radioactive element-containing water at the Fukushima Daiichi Nuclear Power Station.
Appl Environ Microbiol. 2024 Mar 12:e0211323. doi: 10.1128/aem.02113-23. Online ahead of print.

Miyauchi A, Watanabe C, Yamada N, Jimbo EF, Kobayashi M, Ohishi N, Nagayoshi A, Aoki S, Kishita Y, Ohtake A, Ohno N, Takahashi M, Yamagata T, Osaka H.
Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors.
Sci Rep. 2024 Feb 27;14(1):4820. doi: 10.1038/s41598-024-55293-1.

Uchimura A, Yasuda H, Onagi H, Inano T, Shirane S, Ishii M, Azusawa Y, Hamano Y, Eguchi H, Arai M, Ando J, Ando M.
Successful management of acute graft-versus-host disease with ibrutinib during cord blood transplantation for germline DDX41-mutated acute myeloid leukemia.
Heliyon. 2024 Jan 17;10(2):e24801. doi: 10.1016/j.heliyon.2024.e24801.

[2023]

Intarapat S, Sukparangsi W, Gusev O, Sheng G.
A Bird’s-Eye View of Endangered Species Conservation: Avian Genomics and Stem Cell Approaches for Green Peafowl (Pavo muticus).
Genes (Basel). 2023 Nov 4;14(11):2040.

Cornette R, Indo HP, Iwata KI, Hagiwara-Komoda Y, Nakahara Y, Gusev O, Kikawada T, Okuda T, Majima HJ.
Oxidative stress is an essential factor for the induction of anhydrobiosis in the desiccation-tolerant midge, Polypedilum vanderplanki (Diptera, Chironomidae).
Mitochondrion. 2023 Nov 11;73:84-94.

Matsuyama S, Fukuda A, Matsumoto A, Eguchi H, Ueo T, Ohana M, Seno H.
Sporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern.
Clin J Gastroenterol. 2023 Nov 11. doi: 10.1007/s12328-023-01884-w. Online ahead of print.

Takayama T, Muguruma N, Igarashi M, Ohsumi S, Oka S, Kakuta F, Kubo Y, Kumagai H, Sasaki M, Sugai T, Sugano K, Takeda Y, Doyama H, Banno K, Fukahori S, Furukawa Y, Horimatsu T, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y.
Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication.
J Anus Rectum Colon. 2023 Oct 25;7(4):284-300.

Miyazaki A, Itoi-Ochi S, Hayashi M, Ota A, Nagai K, Inoue S, Tomita N, Eguchi H, Okazaki Y, Ishida H, Hashimoto T.
A Case of Lamina Lucida-Type Linear IgA Disease Complicated by Colon Polyposis and Rectal Adenocarcinoma.
Case Rep Dermatol. 2023 Sep 1;15(1):126-132.

Muto Y, Suzuki M, Takei H, Saito N, Mori J, Sugimoto S, Imagawa K, Nambu R, Oguri S, Itonaga T, Ihara K, Hayashi H, Murayama K, Kakiyama G, Nittono H, Shimizu T.
Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.
Mol Genet Metab. 2023 Sep 28:107703. doi: 10.1016/j.ymgme.2023.107703. Online ahead of print.

Kurayoshi K, Takase Y, Ueno M, Ohta K, Fuse K, Ikeda S, Watanabe T, Nishida Y, Horike SI, Hosomichi K, Ishikawa Y, Tadokoro Y, Kobayashi M, Kasahara A, Jing Y, Shoulkamy MI, Meguro-Horike M, Kojima K, Kiyoi H, Sugiyama H, Nagase H, Tajima A, Hirao A.
Targeting cis-regulatory elements of FOXO family is a novel therapeutic strategy for induction of leukemia cell differentiation.
Cell Death Dis. 2023 Sep 29;14(9):642. doi: 10.1038/s41419-023-06168-2.

Francesco S, Fabiola G, Grazia F, Cristina B, J MH, Akira O, Anna A, Masayuki I, Sabrina G, Gerarda C, Giuliana G, Roberta R, Manuel Q, Serena G, Daniele M, Marco C, Akira I, Yasuyuki F, Itaru H, Yasushi O, Mario M, Rocco P, Gianni C, Andrea B.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
J Clin Immunol. 2023 Sep 28. doi: 10.1007/s10875-023-01584-7. Online ahead of print.

Tajima R, Okazaki A, Sato T, Ozaki K, Motooka D, Okazaki Y, Yoda T.
Genetic Landscape of Masticatory Muscle Tendon-Aponeurosis Hyperplasia.
Genes (Basel).2023 Aug 29;14(9):1718. doi: 10.3390/genes14091718.

Shaikhutdinov NM, Klink GV, Garushyants SK, Kozlova OS, Cherkasov AV, Kikawada T, Okuda T, Pemba D, Shagimardanova EI, Penin AA, Deviatiiarov RM, Gazizova GR, Cornette R, Gusev OA, Bazykin GA.
Population genomics of two closely related anhydrobiotic midges reveals differences in adaptation to extreme desiccation.
Genome Biol Evol. 2023 Oct 6;15(10):evad169. doi: 10.1093/gbe/evad169. Online ahead of print.

Kimura T, Kawano H, Muto S, Muramoto N, Takano T, Lu Y, Eguchi H, Wada H, Okazaki Y, Ide H, Horie S.
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Biomolecules. 2023 Jun 21;13(7):1020. doi: 10.3390/biom13071020.

Ito N, Kudo T, Eguchi H, Jimbo K, Furuhata A, Okuno T, Takeuchi I, Arai K, Ishige T, Okazaki Y, Shimizu T.
Attenuated Expression of SLCO2A1 Caused by DNA Methylation in Pediatric Inflammatory Bowel Disease.
Inflamm Bowel Dis. 2023 Jun 16:izad116. doi: 10.1093/ibd/izad116. Online ahead of print.

Sonoda H, Yamada T, Yamaguchi T, Eguchi H, Okazaki Y, Yoshida H, Ishida H.
A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers.
Jpn J Clin Oncol. 2023 Jun 15:hyad065. doi: 10.1093/jjco/hyad065. Online ahead of print.

Hamanaka K, Yamauchi D, Koshimizu E, Watase K, Mogushi K, Ishikawa K, Mizusawa H, Tsuchida N, Uchiyama Y, Fujita A, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N.
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.
Genome Res. 2023;33(3):435-447.

Sugiyama Y, Murayama K.
Acute Encephalopathy Caused by Inherited Metabolic Diseases.
J Clin Med. 2023;12(11):3797.

Petersen J, Englmaier L, Artemov AV, Poverennaya I, Mahmoud R, Bouderlique T, Tesarova M, Deviatiiarov R, Szilvásy-Szabó A, Akkuratov EE, Pajuelo Reguera D, Zeberg H, Kaucka M, Kastriti ME, Krivanek J, Radaszkiewicz T, Gömöryová K, Knauth S, Potesil D, Zdrahal Z, Ganji RS, Grabowski A, Buhl ME, Zikmund T, Kavkova M, Axelson H, Lindgren D, Kramann R, Kuppe C, Erdélyi F, Máté Z, Szabó G, Koehne T, Harkany T, Fried K, Kaiser J, Boor P, Fekete C, Rozman J, Kasparek P, Prochazka J, Sedlacek R, Bryja V, Gusev O, Adameyko I.
A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology.
Nat Commun. 2023;14(1):3092.

Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y.
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
J Hum Genet. 2023 May 29. doi: 10.1038/s10038-023-01156-y. Online ahead of print.

Sakamoto T, Tanimoto K, Eguchi H, Sasaki S, Tsuboi K, Hayashi SI, Ichihara S.
Resveratrol exhibits diverse anti-cancer activities through epigenetic regulation of E-cadherin and p21 in triple-negative breast cancer cells.
Breast Cancer. 2023 May 11. doi: 10.1007/s12282-023-01465-2. Online ahead of print.

Matsumoto T, Umeno J, Jimbo K, Arai M, Iwama I, Kashida H, Kudo T, Koizumi K, Sato Y, Sekine S, Tanaka S, Tanakaya K, Tamura K, Hirata K, Fukahori S, Esaki M, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y.
Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.
J Anus Rectum Colon. 2023;7(2):115-125. (Review)

Imasawa T, Kitamura H, Kawaguchi T, Yatsuka Y, Okazaki Y, Murayama K.
Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A case report
Heliyon. 2023;9(4):e14923.

Ohyama-Tamagake A, Kaneko K, Itami R, Nakano M, Namioka Y, Izumi R, Sato H, Suzuki H, Takeda A, Yatsuka Y, Okazaki Y, Abe T, Murayama K, Sugeno N, Misu T, Aoki M.
Reply to the Letter “Reversible Vasoconstriction Syndrome is a Complication of SARS-CoV-2 Infection/Vaccination Rather Than That of Leigh Syndrome”.
Intern Med. 2023 Apr 21. doi: 10.2169/internalmedicine.1962-23. Online ahead of print.

Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y.
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
J Med Genet. 2023 Apr 13:jmg-2022-109027. doi: 10.1136/jmg-2022-109027. Online ahead of print.

Yamamoto H, Sakamoto H, Kumagai H, Abe T, Ishiguro S, Uchida K, Kawasaki Y, Saida Y, Sano Y, Takeuchi Y, Tajika M, Nakajima T, Banno K, Funasaka Y, Hori S, Yamaguchi T, Yoshida T, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y.
Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.
Digestion. 2023 Apr 13:1-13. doi: 10.1159/000529799. Online ahead of print.

Utsunomiya H, Akazawa Y, Ueyama H, Iwano T, Yamamoto M, Uchida R, Oki S, Suzuki N, Abe D, Ikeda A, Takeda T, Ueda K, Hojo M, Yube Y, Kaji S, Okano S, Tsuyama S, Eguchi H, Okazaki Y, Arai M, Fukunaga T, Yao T, Nagahara A.
Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging: A Case Report.
Intern Med. 2023 Mar 31. doi: 10.2169/internalmedicine.1612-23. Online ahead of print.

Suzuki-Ajihara S, Saito-Tsuruoka M, Harashima H, Arai K, Koide H, Yatsuka Y, Imai-Okazaki A, Okazaki Y, Murayama K, Numakura C, Akioka Y, Ohtake A.
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Mol Genet Metab Rep. 2023;35:100966

Naganuma T, Imasawa T, Nukui I, Wakasugi M, Kitamura H, Yatsuka Y, Kishita Y, Okazaki Y, Murayama K, Jinguji Y.
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report.
Mol Genet Metab Rep. 2023;35:100963.

Honma N, Arai T, Matsuda Y, Fukunaga Y, Muramatsu M, Ikeda S, Akishima-Fukasawa Y, Yamamoto N, Kawachi H, Ishikawa Y, Takeuchi K, Mikami T.
Estrogen Receptor-β Gene Cytosine-Adenine ( ESR2-CA) Repeat Polymorphism in Postmenopausal Colon Cancer.
Int J Mol Sci. 2023;24(5):4502.

Fujitani H, Eguchi H, Kochi Y, Arai T, Muramatsu M, Okazaki Y.
Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.
Eur J Cancer Prev. 2023;32(3):286-297.

Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo EF, Tokuyama T, Uosaki H, Kishita Y, Okazaki Y, Onuki T, Ebihara T, Aizawa K, Murayama K, Ohtake A, Yamagata T.
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Mol Genet Metab Rep. 2023;34:100951.

Hirai S, Suzuki M, Sakurai Y, Nakano S, Minowa K, Eguchi H, Okazaki Y, Shimizu T.
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
J Pediatr Gastroenterol Nutr. 2023;76(4):483-488.

Kananazawa Y, Yamada T, Yamaguchi T, Saito Y, Kakinuma D, Masuda Y, Ando F, Ohashi R, Eguchi H, Okazaki Y, Ishida H, Yoshida H.
A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Jpn J Clin Oncol. 2023;53(3):275-279.

Takada M, Fukuhara D, Takiura T, Nishibori Y, Kotani M, Kiuchi Z, Kudo A, Beltcheva O, Ito-Nitta N, Nitta KR, Kimura T, Suehiro JI, Katada T, Takematsu H, Yan K.
Involvement of GLCCI1 in mouse spermatogenesis.
FASEB J. 2023;37(1):e22680.

Motobayashi M, Munakata S, Kitazawa N, Fushimi T, Murayama K, Inaba Y.
Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report.
Pediatr Neurol. 2023;138:98-100.

Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol. 2023;93(2):330-335.

[2022]

Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome Med. 2022;14(1):38.

Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki, Kei Murayama.
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A.
Mitochondrion. 2022;63:1-8.

Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K.
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Arch Dis Child Fetal Neonatal Ed. 2022;107(3):329-334.

Tong D, Tanaka M, Eguchi H, Okazaki Y, Muramatsu M, Arai T.
COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study.
Mol Clin Oncol. 2022;16(2):32.

Imai-Okazaki A, Nitta KR, Yatsuka Y, Sugiura A, Arao M, Shimura M, Ebihara T, Onuki T, Ichimoto K, Ohtake A, Murayama K, Okazaki Y.
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.
J Inherit Metab Dis. 2022 Nov;45(6):1143-1150.

Mori Y, Amano K, Chikatani K, Ito T, Suzuki O, Kamae N, Hatano S, Chika N, Yamamoto A, Ishibashi K, Eguchi H, Okazaki Y, Iwama T, Ishida H.
Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan.
Int J Clin Oncol. 2022;27(6):1034-1042.

Kobayashi M, Suzuki Y, Nodera M, Matsunaga A, Kohda M, Okazaki Y, Murayama K,Yamagata T, Osaka H.
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Hum Genome Var. 2022;9(1):35.

Kawata-Shimamura Y, Eguchi H, Kawabata-Iwakawa R, Nakahira M, Okazaki Y, Yoda T, Grénman R, Sugasawa M, Nishiyama M.
Biomarker discovery for practice of precision medicine in hypopharyngeal cancer: a theranostic study on response prediction of the key therapeutic agents.
BMC Cancer. 2022;22(1):779.

Tokuyama T, Uosaki H, Sugiura A, Nishitai G, Takeda K, Nagashima S, Shiiba I, Ito N, Amo T, Mohri S, Nishimura A, Nishida M, Konno A, Hirai H, Ishido S, Yoshizawa T, Shindo T, Takada S, Kinugawa S, Inatome R, Yanagi S
Protective roles of MITOL against myocardial senescence and ischemic injury partly via Drp1 regulation.
iScience., 2022; 25:104582

Yamashiro Y, Yanai Y, Takeda T, Hayashi T, Akazawa Y, Yatagai N, Ueyama H, Eguchi H, Nagahara A, Yao T, Saito T.
Molecular and clinicopathological analysis of three cases of gastric juvenile polyposis.
JGH Open. 2022;6(8):531-538.

Sasaki R, Kurebayashi N, Eguchi H, Horimoto Y, Shiga T, Miyazaki S, Kashiyama T, Akamatsu W, Saito M.
Involvement of kallikrein-PAR2-proinflammatory pathway in severe trastuzumab-induced cardiotoxicity.
Cancer Sci. 2022;113(10):3449-3462.

Miyata Y, Tokumoto S, Arai T, Shaikhutdinov N, Deviatiiarov R, Fuse H, Gogoleva N, Garushyants S, Cherkasov A, Ryabova A, Gazizova G, Cornette R, Shagimardanova E, Gusev O, Kikawada T.
Identification of Genomic Safe Harbors in the Anhydrobiotic Cell Line, Pv11.
Genes (Basel). 2022;13(3):406.

Kondratyeva SA, Voronina TA, Nesmelov AA, Miyata Y, Tokumoto S, Cornette R, Vorontsova MV, Kikawada T, Gusev OA, Shagimardanova EI. Intracellular Localization and Gene Expression Analysis Provides New Insights on LEA Proteins’ Diversity in Anhydrobiotic Cell Line.
Biology (Basel). 2022;11(4):487.

Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O. Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
Biology (Basel). 2022;11(10):1461.

2021年

Kimura-Nakajima C, Sakaguchi K, Hatano Y, Matsumoto M, Okazaki Y, Tanaka K, Yamane T, Oishi Y, Kamimoto K, Iwatsuki K. Ngn3-Positive Cells Arise from Pancreatic Duct Cells. Int J Mol Sci 2021;22(16):8548.

Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta K.R, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Hum Mutat 2021;42(11):1422-1428.

Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu. Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome. Heliyon 2021;7(8):e07804.

Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta K.R, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. Int J Cardiol 2021 341:48-55.

Inaba A, Arinaga A, Tanaka K, Endo T, Hayatsu N, Okazaki Y, Yamane T, Oishi Y, Imai H, Iwatsuki K. Interleukin-4 Promotes Tuft Cell Differentiation and Acetylcholine Production in Intestinal Organoids of Non-Human Primate. Int J Mol Sci 2021;22(15)7921.

Watanabe A, Tanaka A, Koga C, Matsumoto M, Okazaki Y, Kin T, Miyajima A. CD82 is a marker to isolate beta cell precursors from human iPS cells and plays a role for the maturation of beta cells. Sci Rep 2021;11(1):9530.

Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S. A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction. Eur J Med Genet 2021;64(8):104251.

Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan. Sci Rep 2021;11(1):3531.

Frazier A.E, Compton A.G, Kishita Y, Hock D.H, Welch A.E, Amarasekera S.S.C, Rius R, Formosa L.E, Imai-Okazaki A., Francis D., Wang M., Lake N.J., Tregoning S., Jabbari J.S., Lucattini A., Nitta K.R, Ohtake A, Murayama K, Amor D.J, McGillivray G, Wong F.Y, van der Knaap M.S, Jeroen Vermeulen R, Wiltshire E.J, Fletcher J.M, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann M.L, Arbuckle S, Rodriguez M, Taft R.J, Sadedin S, Cowley M.J, Minoche A.E, Calvo S.E, Mootha V.K, Ryan M.T, Okazaki Y, Stroud D.A, Simons C, Christodoulou J, Thorburn D.R. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. Med (N Y) 2021;2(1):49-73.

Imai-Okazaki A, Yagi N, Nitta K.R, Murayama K, Ohtake A, Okazaki Y. Clinical heterogeneity in patients with m.4412G>A MT-TM mutation and different heteroplasmy levels. Mitochondrion 2021;59:214-215.

Ito T, Suzuki O, Kamae N, Tamaru J.I, Arai T, Yamaguchi T, Akagi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H. Comprehensive analysis of DNA mismatch repair-deficient gastric cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(6):886-894.

Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K, Tamaru J.I, Arai T, Yamaguchi T, Ishida H. Prevalence and clinicopathological/molecular characteristics of mismatch repair protein-deficient tumours among surgically treated patients with prostate cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(4):639-645.

Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Kamae N, Eguchi H, Okazaki Y, Yamamoto G, Akagi K, Tamaru J.I, Yamaguchi T, Arai T, Ishida H. Identification of Lynch syndrome-associated DNA mismatch repair-deficient bladder cancer in a Japanese hospital-based population. Int J Clin Oncol

Kishita Y, Ishikawa K, Nakada K, Hayashi J.I, Fushimi T, Shimura M, Kohda M, Ohtake A, Murayama K, Okazaki Y. A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome. Sci Rep 2021;11(1):11123.

Natsume S, Yamaguchi T, Eguchi H, Okazaki Y, Horiguchi S.I, Ishida H. Germline deletion of chromosome 2p16-21 associated with Lynch syndrome. Hum Genome Var 2021;8(1):19.

Sasako T, Ueki K, Miyake K, Okazaki Y, Takeuchi Y, Ohashi Y, Noda M, Kadowaki T. Effect of a Multifactorial Intervention on Fracture in Patients With Type 2 Diabetes: Subanalysis of the J-DOIT3 Study. J Clin Endocrinol Metab 2021;106(5):e2116-e2128.

Takao M, Yamaguchi T, Eguchi H, Yamada T, Okazaki Y, Tomita N, Nomizu T, Momma T, Takayama T, Tanakaya K, Akagi K, Ishida H. APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients. Int J Clin Oncol

Ueki K, Sasako T, Okazaki Y, Miyake K, Nangaku M, Ohashi Y, Noda M, Kadowaki T, Group J.D.S. Multifactorial intervention has a significant effect on diabetic kidney disease in patients with type 2 diabetes. Kidney Int 2021;99(1):256-266.

Watanabe A, Tanaka A, Koga C, Matsumoto M, Okazaki Y, Kin T, Miyajima A. CD82 is a marker to isolate beta cell precursors from human iPS cells and plays a role for the maturation of beta cells. Sci Rep 2021;11(1):9530.

Yamamoto A, Yamaguchi T, Suzuki O, Ito T, Chika N, Kamae N, Tamaru J.I, Nagai T, Seki H, Arai T, Tachikawa T, Akagi K, Eguchi H, Okazaki Y, Ishida H. Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(1):60-69.

Ito T, Suzuki O, Kamae N, Tamaru J.I, Arai T, Yamaguchi T, Akagi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H. Comprehensive analysis of DNA mismatch repair-deficient gastric cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(6):886-894.

Sato Y, Aoki R, Nagano N, Takano C, Seimiya A, Kato R, Ogawa E, Ishige M, Okazaki Y, Murayama K, Morioka I. Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease. Sci Prog 2021;104(2):368504211011873.

2020年

Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K, Tamaru JI, Arai T, Yamaguchi T, Ishida H. Prevalence and clinicopathological/molecular characteristics of mismatch repair protein-deficient tumours among surgically treated patients with prostate cancer in a Japanese hospital-based population. Jpn. J. Clin. Oncol. 2020 Nov 27:hyaa207. doi: 10.1093/jjco/hyaa207. Online ahead of print. PMID: 33244609

Borna NN, Kishita Y, Sakai N, Hamada Y, Kamagata K, Kohda M, Ohtake A, Murayama K, Okazaki Y. Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL. Genes (Basel). 2020 Nov 9;11(11):E1325. doi: 10.3390/genes11111325. PMID: 33182419.

Ito T, Ishida H, Suzuki O, Chika N, Amano K, Ishibashi K, Kamae N, Tada Y, Akagi K, Eguchi H, Okazaki Y. Prevalence and Molecular Characterization of Defective DNA Mismatch Repair in Small-bowel Carcinoma in a Japanese Hospital-based Population. J. Anus Rectum Colon. 2020 Oct 29;4(4):165-173. doi: 10.23922/jarc.2020-026. eCollection 2020. PMID: 33134597

Maeoka Y, Doi T, Aizawa M, Miyasako K, Hirashio S, Masuda Y, Kishita Y, Okazaki Y, Murayama K, Imasawa T, Hara S, Masaki T. A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes. BMC Nephrol. 2020;21(1):376. Published 2020 Aug 28. doi:10.1186/s12882-020-02040-z. PMID: 32859164

Yamamoto A, Yamaguchi T, Suzuki O, Ito T, Chika N, Kamae N, Tamaru JI, Nagai T, Seki H, Arai T, Tachikawa T, Akagi K, Eguchi H, Okazaki Y, Ishida H. Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population. Jpn. J. Clin. Oncol. 2020 Aug 26:hyaa142. doi: 10.1093/jjco/hyaa142. PMID: 32844218

Takeda A, Murayama K, Okazaki Y, Imai-Okazaki A, Ohtake A, Takakuwa E, Yamazawa H, Izumi G, Abe J, Nagai A, Taniguchi K, Sasaki D, Tsujioka T, Basgen JM. Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy. J. Clin. Pathol. 2020 Aug 17:jclinpath-2020-206801. doi: 10.1136/jclinpath-2020-206801. PMID: 32817174

Kishita Y, Shimura M, Kohda M, Akita M, Imai-Okazaki A, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, Okazaki Y. A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Mol. Genet. Genomic Med. 2020 Aug 4:e1427. doi: 10.1002/mgg3.1427. PMID: 32749073

Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H. A Model for Predicting DNA Mismatch Repair-deficient Colorectal Cancer. Anticancer Res. 2020 Aug;40(8):4379-4385. doi: 10.21873/anticanres.14441. PMID: 32727766

Ramilowski JA, Yip CW, Agrawal S, Chang JC, Ciani Y, Kulakovskiy IV, Mendez M, Ooi JLC, Ouyang JF, Parkinson N, Petri A, Roos L, Severin J, Yasuzawa K, Abugessaisa I, Akalin A, Antonov IV, Arner E, Bonetti A, Bono H, Borsari B, Brombacher F, Cameron CJ, Cannistraci CV, Cardenas R, Cardon M, Chang H, Dostie J, Ducoli L, Favorov A, Fort A, Garrido D, Gil N, Gimenez J, Guler R, Handoko L, Harshbarger J, Hasegawa A, Hasegawa Y, Hashimoto K, Hayatsu N, Heutink P, Hirose T, Imada EL, Itoh M, Kaczkowski B, Kanhere A, Kawabata E, Kawaji H, Kawashima T, Kelly ST, Kojima M, Kondo N, Koseki H, Kouno T, Kratz A, Kurowska-Stolarska M, Kwon ATJ, Leek J, Lennartsson A, Lizio M, López-Redondo F, Luginbühl J, Maeda S, Makeev VJ, Marchionni L, Medvedeva YA, Minoda A, Müller F, Muñoz-Aguirre M, Murata M, Nishiyori H, Nitta KR, Noguchi S, Noro Y, Nurtdinov R, Okazaki Y, Orlando V, Paquette D, Parr CJC, Rackham OJL, Rizzu P, Sánchez Martinez DF, Sandelin A, Sanjana P, Semple CAM, Shibayama Y, Sivaraman DM, Suzuki T, Szumowski SC, Tagami M, Taylor MS, Terao C, Thodberg M, Thongjuea S, Tripathi V, Ulitsky I, Verardo R, Vorontsov IE, Yamamoto C, Young RS, Baillie JK, Forrest ARR, Guigó R, Hoffman MM, Hon CC, Kasukawa T, Kauppinen S, Kere J, Lenhard B, Schneider C, Suzuki H, Yagi K, de Hoon MJL, Shin JW, Carninci P. Functional annotation of human long noncoding RNAs via molecular phenotyping. Genome Res. 2020 Jul;30(7):1060-1072. doi: 10.1101/gr.254219.119. Epub 2020 Jul 27. PMID: 32718982

Shimura M, Kuranobu N, Ogawa-Tominaga M, Akiyama N, Sugiyama Y, Ebihara T, Fushimi T, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Umetsu S, Inui A, Fujisawa T, Tanikawa K, Ito R, Fukuda A, Murakami J, Kaji S, Kasahara M, Shiraki K, Ohtake A, Okazaki Y, Murayama K. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. Orphanet J. Rare Dis. 2020 Jul 24;15(1):169. doi: 10.1186/s13023-020-01441-5. PMID: 32703289

Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, Knaap MS, Vermeulen RJ, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus. Med 2020 July 9; doi:10.1016/j.medj.2020.06.004

Ito T, Nomizu T, Eguchi H, Kamae N, Dechamethakun S, Akama Y, Endo G, Sugano K, Yoshida T, Okazaki Y, Ishida H. The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan. Jpn. J. Clin. Oncol. 2020 Jun 17:hyaa090. doi: 10.1093/jjco/hyaa090. Online ahead of print. PMID: 32548621

Borna NN, Kishita Y, Abe J, Furukawa T, Ogawa-Tominaga M, Fushimi T, Imai-Okazaki A, Takeda A, Ohtake A, Murayama K, Okazaki Y. NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness. Brain. 2020 Jul 1;143(7):e54. doi: 10.1093/brain/awaa130. PMID: 32462209.

Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clin. Genet. 2020 Aug;98(2):155-165. doi: 10.1111/cge.13773. Epub 2020 May 25.　PMID: 32385911

Miyahara Y, Ishida H, Kawabe K, Eto H, Kasai T, Ito T, Kaneko K, Arai M, Kamae N, Momose S, Eguchi H, Okazaki Y. A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome. Jpn. J. Clin. Oncol. 2020 Jul 9;50(7):826-829. doi: 10.1093/jjco/hyaa059. PMID: 3237872.

Ohnuma K, Kishita Y, Nyuzuki H, Kohda M, Ohtsu Y, Takeo S, Asano T, Sato-Miyata Y, Ohtake A, Murayama K, Okazaki Y, Aigaki T. Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila. FEBS Lett. 2020 Apr 15. doi: 10.1002/1873-3468.13792. Online ahead of print. PMID: 32294252

Yamashita-Sugahara Y, Tokuzawa Y, Nakachi Y, Kanesaki-Yatsuka Y, Matsumoto M, Mizuno Y, Okazaki Y. Correction: Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis. J. Biol. Chem. 2020 Apr 10;295(15):5176. doi: 10.1074/jbc.AAC120.013475. PMID: 32277067.

Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H. Clinically applicable cases of anti-programmed cell death protein 1 immunotherapy for colorectal cancer patients. Surg. Today. 2020 Dec;50(12):1694-1698. doi: 10.1007/s00595-020-01998-5. Epub 2020 Apr 6. PMID: 32253514.

Tanaka A, Watanabe A, Nakano Y, Matsumoto M, Okazaki Y, Miyajima A. Reversible expansion of pancreatic islet progenitors derived from human induced pluripotent stem cells. Genes Cells. 2020 May;25(5):302-311. doi: 10.1111/gtc.12759. Epub 2020 Mar 6. PMID: 32065490

Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K. Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis. J. Inherit Metab. Dis. 2020 Jul;43(4):819-826. doi: 10.1002/jimd.12218. Epub 2020 Feb 10. PMID: 31967322.

Kobayashi M, Matsubara N, Nakachi Y, Okazaki Y, Uchino M, Ikeuchi H, Song J, Kimura K, Yasuhara M, Babaya A, Yamano T, Ikeda M, Nishikawa H, Matsuda I, Hirota S, Tomita N. Hypermethylation of Corticotropin Releasing Hormone Receptor-2 Gene in Ulcerative Colitis Associated Colorectal Cancer. In Vivo. 2020 Jan-Feb;34(1):57-63. doi: 10.21873/invivo.11745. PMID: 31882463.

2019年

Shimura M, Kishita Y, Okazaki Y, Murayama K. et al. Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases. Sci. Rep. 2019;9(1):10549.

Moutaoufik MT, Okazaki Y, Babu M. et al. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. iScience. 2019;19:1114-1132.

Yao Y, Kishita Y, Okazaki Y, Tanaka T. et al. A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing. Sci. Rep. 2019;9(1):17411.

Takenouchi T, Okazaki Y, Tomizawa K. et al. Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood. Am. J. Med. Genet. A. 2019;179(8):1609-1614.

Mitsui Y, Eguchi H, Okazaki Y, Takayama T. et al. Different phenotypes of gastric fundic gland polyposis and cancer in patients with familial adenomatous polyposis depending on Helicobacter pylori infection. Gastric Cancer 2019;22(6):1294-1300.

Mitsui Y, Eguchi H, Okazaki Y, Takayama T. et al. First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region. Gastric Cancer 2019;21(6):1058-1063

A Imai-Okazaki, Kishita, Y Kohda M, Okazaki Y. et al. Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. Int. J. Cardiol. 2019; 279:115-121

Shimada S, Mogushi K, Tanaka S. et al. Comprehensive molecular and immunological characterization of hepatocellular carcinoma. EBioMedicine. 2019;40:457-470.

2018年

Martin CA, Kishita Y, Kohda M, Okazaki Y, Jackson AP. et al. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am. J. Hum. Genet. 2018;103(2):221-231.

Asano K, Kishita Y, Okazaki Y, Suzuki T. et al.　Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease. Nucleic Acids Res. 2018;46(4):1565-1583.

Mitsui Y, Eguchi H, Okazaki Y, Takayama T. et al. First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region. Gastric Cancer . 2018. 21(6) 1058-1063

Hirasaki M, Kohda M, Okazaki Y, Okuda A et al. Identification of the Coiled-Coil Domain as an Essential Methyl-CpG-Binding Domain Protein 3 Element for Preserving Lineage Commitment Potential of Embryonic Stem Cells. Stem cells 2018;36(9): 1355-1367

Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Okazaki Y. et al.　Barth Syndrome: Different Approaches to Diagnosis. J. Pediatr. 2018 ;193:256-260.

Ng YS, Okazaki Y, Gorman GS. et al. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine. 2018;30:86-93.

Yamaguchi S, Mogushi K, Ishioka C, Kato S. et al. Molecular and clinical features of the TP53 signature gene expression profile in early-stage breast cancer. Annals of Oncology 2018;9(18):14193-14206.

Shimada S, Mogushi K, Tanaka S. et al. Comprehensive molecular and immunological characterization of hepatocellular carcinoma. EBioMedicine 2018;S2352-3964(18)30634-0.

Horimoto Y, Mogushi K, Saito M. et al. Elucidation of inhibitory effects on metastatic sentinel lymph nodes of breast cancer during One-Step Nucleic Acid Amplification. Sci. Rep. 2018;8(1):7563.

2017年

Imai A, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y, Nakaya A, Ott J: HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing. Hum. Mutat. 2017;38(12):1796-1800.

Desai R, ,Kohda M, Ohtake A, Murayama K, Okazaki Y, , Spinazzola A. et al. : ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain. 2017;140(6):1595-1610.

Noguchi S, Okazaki Y, Hayashizaki Y. et al. : Data Descriptor: FANTOM5 CAGE profiles of human and mouse samples : Sci. Data 2017;4:170112. doi: 10.1038/sdata.2017.112.

Tochigi H, Okazaki Y, Brosens J.J, Ishihara O et al.: Loss of miR-542-3p enhances IGFBP-1 expression in decidualizing human endometrial stromal cells. Sci. Rep. 7:40001, 2017
Ogawa E, Kohda M, Kishita Y, Okazaki Y, Ohtake A, Murayama K et al. :Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. J. Inherit Metab. Dis. 2017;40(5):685-693.

Feichtinger RG, Kishita Y, Kohda M, Okazaki Y, Minczuk M, Prokisch H. et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am. J. Hum. Genet. 2017 101(4):525-538.

Ishizawa J, Mogushi K, Saya H. et al. FZR1 loss increases sensitivity to DNA damage and consequently promotes murine and human B cell acute leukemia. Blood 2017;129(14):1958-1968.

Tabe Y, Mogushi K, Andreeff M. et al. Survival of acute monocytic leukemia cells is driven by fatty acid oxidation-mediated activation of AMPK in bone marrow adipocytes. Cancer Res. 2017;77(6):1453-1464.

Yoshida E, T Mogushi K, Kawaji H. et al. Promoter-level transcriptome in primary lesions of endometrial cancer identified biomarkers associated with lymph node metastasis. Sci. Rep. 2017;7(1):14160.

2016年

Toda-Ishii M, Mogushi K, Saito T. et al. Clinicopathological effects of protein phosphatase 2, regulatory subunit A, alpha mutations in gastrointestinal stromal tumors. Mod. Pathol. 29:1424-1432, 2016.

Morita T, Mogushi K, Harada K. et al. Characterizing Genetic Transitions of Copy Number Alterations and Allelic Imbalances in Oral Tongue Carcinoma Metastasis. Genes Chromosom. Cancer. 55:975-986, 2016.

Takamochi K, Mogushi K, Kawaji H. et al. Novel biomarkers that assist in accurate discrimination of squamous cell carcinoma from adenocarcinoma of the lung. BMC Cancer. 16:760, 2016.