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Items: 1 to 50 of 218

1.

Multivalent glycoligands with lectin/enzyme dual specificity: self-deliverable glycosidase regulators.

González-Cuesta M, Goyard D, Nanba E, Higaki K, García Fernández JM, Renaudet O, Ortiz Mellet C.

Chem Commun (Camb). 2019 Nov 4;55(85):12845-12848. doi: 10.1039/c9cc06376e. Epub 2019 Oct 9.

PMID:
31596280
2.

Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders.

Ebiki M, Okazaki T, Kai M, Adachi K, Nanba E.

Yonago Acta Med. 2019 Sep 13;62(3):244-252. doi: 10.33160/yam.2019.09.001. eCollection 2019 Sep.

3.

A new heterozygous compound mutation in the CTSA gene in galactosialidosis.

Nakajima H, Ueno M, Adachi K, Nanba E, Narita A, Tsukimoto J, Itoh K, Kawakami A.

Hum Genome Var. 2019 Apr 26;6:22. doi: 10.1038/s41439-019-0054-x. eCollection 2019.

4.

Pharmacological Chaperones for the Treatment of α-Mannosidosis.

Rísquez-Cuadro R, Matsumoto R, Ortega-Caballero F, Nanba E, Higaki K, García Fernández JM, Ortiz Mellet C.

J Med Chem. 2019 Jun 27;62(12):5832-5843. doi: 10.1021/acs.jmedchem.9b00153. Epub 2019 May 2.

PMID:
31017416
5.

Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation.

Okazaki T, Saito Y, Sugita K, Nosaka K, Ohno K, Hiraoka Y, Kasagi N, Ebiki M, Narai S, Kawashima Y, Takano S, Kai M, Adachi K, Yamamoto O, Nanba E, Maegaki Y.

Yonago Acta Med. 2019 Mar 28;62(1):159-162. eCollection 2019 Mar.

6.

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

Kawazoe T, Yamamoto T, Narita A, Ohno K, Adachi K, Nanba E, Noguchi A, Takahashi T, Maekawa M, Eto Y, Ogawa M, Murata M, Takahashi Y.

BMC Neurol. 2018 Aug 17;18(1):117. doi: 10.1186/s12883-018-1124-2.

7.

Acute localized exanthematous pustulosis caused by a herbal medicine, dai-kenchu-to.

Tsutsumi R, Yoshida Y, Adachi K, Nanba E, Yamamoto O.

Contact Dermatitis. 2018 Oct;79(4):257-259. doi: 10.1111/cod.13076. Epub 2018 Jul 16. No abstract available.

PMID:
30014493
8.

A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.

Hosoba S, Kito K, Teramoto Y, Adachi K, Nakanishi R, Asai A, Iwasa M, Nishimura R, Moritani S, Kawahara M, Minamiguchi H, Nanba E, Kushima R, Andoh A.

Medicine (Baltimore). 2018 Jul;97(27):e11361. doi: 10.1097/MD.0000000000011361.

9.

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y.

Clin Genet. 2018 Oct;94(3-4):391-392. doi: 10.1111/cge.13378. Epub 2018 Jun 10.

PMID:
29888467
10.

Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease.

Mena-Barragán T, García-Moreno MI, Sevšek A, Okazaki T, Nanba E, Higaki K, Martin NI, Pieters RJ, Fernández JMG, Mellet CO.

Molecules. 2018 Apr 17;23(4). pii: E927. doi: 10.3390/molecules23040927.

11.

Proposal for risk-based scientific approach on full and partial validation for general changes in bioanalytical method.

Mochizuki A, Ieki K, Kamimori H, Nagao A, Nakai K, Nakayama A, Nanba E.

Bioanalysis. 2018 Apr 1;10(8):577-586. doi: 10.4155/bio-2017-0226. Epub 2018 Apr 10.

PMID:
29633860
12.

Increased IRS2 mRNA Expression in SGA Neonates: PCR Analysis of Insulin/IGF Signaling in Cord Blood.

Fujimoto M, Sonoyama YK, Fukushima K, Imamoto A, Miyahara F, Miyahara N, Nishimura R, Yamada Y, Miura M, Adachi K, Nanba E, Hanaki K, Kanzaki S.

J Endocr Soc. 2017 Oct 5;1(12):1408-1416. doi: 10.1210/js.2017-00294. eCollection 2017 Dec 1.

13.

Corrigendum to "Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child".

Suzuki R, Tanaka A, Matsui T, Gunji T, Tohyama J, Narita A, Nanba E, Ohno K.

Case Rep Pediatr. 2017;2017:4120361. doi: 10.1155/2017/4120361. Epub 2017 Sep 20.

14.

An anti-glypican 3/CD3 bispecific T cell-redirecting antibody for treatment of solid tumors.

Ishiguro T, Sano Y, Komatsu SI, Kamata-Sakurai M, Kaneko A, Kinoshita Y, Shiraiwa H, Azuma Y, Tsunenari T, Kayukawa Y, Sonobe Y, Ono N, Sakata K, Fujii T, Miyazaki Y, Noguchi M, Endo M, Harada A, Frings W, Fujii E, Nanba E, Narita A, Sakamoto A, Wakabayashi T, Konishi H, Segawa H, Igawa T, Tsushima T, Mutoh H, Nishito Y, Takahashi M, Stewart L, ElGabry E, Kawabe Y, Ishigai M, Chiba S, Aoki M, Hattori K, Nezu J.

Sci Transl Med. 2017 Oct 4;9(410). pii: eaal4291. doi: 10.1126/scitranslmed.aal4291.

PMID:
28978751
15.

Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis.

Kurata H, Shirai K, Saito Y, Okazaki T, Ohno K, Oguri M, Adachi K, Nanba E, Maegaki Y.

Brain Dev. 2018 Jan;40(1):36-41. doi: 10.1016/j.braindev.2017.07.005. Epub 2017 Jul 31.

PMID:
28774669
16.

Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.

Okazaki T, Saito Y, Hiraiwa R, Saitoh S, Kai M, Adachi K, Nishimura Y, Nanba E, Maegaki Y.

Epileptic Disord. 2017 Sep 1;19(3):339-344. doi: 10.1684/epd.2017.0922.

17.

Miglustat therapy in a case of early-infantile Niemann-Pick type C.

Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H.

Brain Dev. 2017 Nov;39(10):886-890. doi: 10.1016/j.braindev.2017.05.006. Epub 2017 Jun 3.

PMID:
28587793
18.

[Clinical characteristics of early juvenile GM2 gangliosidosis: a case report].

Ono H, Sugiura C, Narita A, Ohno K, Saito Y, Maegaki Y, Murakami N, Nanba E.

No To Hattatsu. 2017 May;49(3):203-6. Japanese.

PMID:
30113798
19.

Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C.

Kodachi T, Matsumoto S, Mizuguchi M, Osaka H, Kanai N, Nanba E, Ohno K, Yamagata T.

Neuropathology. 2017 Oct;37(5):426-430. doi: 10.1111/neup.12380. Epub 2017 Apr 7.

PMID:
28387450
20.

Nagashima-type palmoplantar keratosis with melanoma: absence of epidermal Langerhans cells in hyperkeratotic skin.

Tsutsumi R, Yoshida Y, Yamada N, Adachi K, Nanba E, Yamamoto O.

Eur J Dermatol. 2017 Apr 1;27(2):210-212. doi: 10.1684/ejd.2016.2960. No abstract available.

PMID:
28251895
21.

Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease.

García-Moreno MI, de la Mata M, Sánchez-Fernández EM, Benito JM, Díaz-Quintana A, Fustero S, Nanba E, Higaki K, Sánchez-Alcázar JA, García Fernández JM, Ortiz Mellet C.

J Med Chem. 2017 Mar 9;60(5):1829-1842. doi: 10.1021/acs.jmedchem.6b01550. Epub 2017 Feb 22.

PMID:
28171725
22.

A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis.

Izumi H, Kurai J, Kodani M, Watanabe M, Yamamoto A, Nanba E, Adachi K, Igishi T, Shimizu E.

Hum Genome Var. 2017 Jan 26;4:16047. doi: 10.1038/hgv.2016.47. eCollection 2017.

23.

Characterization of SPATA5-related encephalopathy in early childhood.

Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, Saito Y, Maegaki Y, Kubota M, Nanba E, Saitsu H, Matsumoto N, Kato M.

Clin Genet. 2016 Nov;90(5):437-444. doi: 10.1111/cge.12813. Epub 2016 Jul 4.

PMID:
27246907
24.

Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing.

Okazaki T, Murata M, Kai M, Adachi K, Nakagawa N, Kasagi N, Matsumura W, Maegaki Y, Nanba E.

Yonago Acta Med. 2016 Jun 29;59(2):118-25. eCollection 2016 Jun.

25.

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.

Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y.

Brain Dev. 2017 Jan;39(1):67-71. doi: 10.1016/j.braindev.2016.07.004. Epub 2016 Jul 30.

PMID:
27485793
26.

[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].

Morita M, Nanba E, Adachi K, Ohno K.

No To Hattatsu. 2016 May;48(3):205-8. Japanese.

PMID:
27349084
27.

A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1.

Yoshida Y, Doi R, Adachi K, Nanba E, Kodani I, Ryoke K.

Hum Genome Var. 2016 Mar 3;3:16005. doi: 10.1038/hgv.2016.5. eCollection 2016.

28.

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

Narita A, Shirai K, Itamura S, Matsuda A, Ishihara A, Matsushita K, Fukuda C, Kubota N, Takayama R, Shigematsu H, Hayashi A, Kumada T, Yuge K, Watanabe Y, Kosugi S, Nishida H, Kimura Y, Endo Y, Higaki K, Nanba E, Nishimura Y, Tamasaki A, Togawa M, Saito Y, Maegaki Y, Ohno K, Suzuki Y.

Ann Clin Transl Neurol. 2016 Feb 2;3(3):200-15. doi: 10.1002/acn3.292. eCollection 2016 Mar.

29.

Oxytocin for Male Subjects with Autism Spectrum Disorder and Comorbid Intellectual Disabilities: A Randomized Pilot Study.

Munesue T, Nakamura H, Kikuchi M, Miura Y, Takeuchi N, Anme T, Nanba E, Adachi K, Tsubouchi K, Sai Y, Miyamoto K, Horike S, Yokoyama S, Nakatani H, Niida Y, Kosaka H, Minabe Y, Higashida H.

Front Psychiatry. 2016 Jan 21;7:2. doi: 10.3389/fpsyt.2016.00002. eCollection 2016.

30.

Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.

Shibazaki T, Hirabayashi K, Saito S, Shigemura T, Nakazawa Y, Sakashita K, Takagi M, Shiohara M, Adachi K, Nanba E, Sakai N, Koike K.

Am J Med Genet A. 2016 May;170A(5):1278-82. doi: 10.1002/ajmg.a.37563. Epub 2016 Jan 20.

PMID:
26789537
31.

Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child.

Suzuki R, Tanaka A, Matsui T, Gunji T, Tohyama J, Narita A, Nairita A, Nanba E, Ohno K.

Case Rep Pediatr. 2015;2015:807591. doi: 10.1155/2015/807591. Epub 2015 Dec 16. Erratum in: Case Rep Pediatr. 2017;2017:4120361. Nairita A [corrected to Narita A].

32.

Conformationally-locked C-glycosides: tuning aglycone interactions for optimal chaperone behaviour in Gaucher fibroblasts.

Navo CD, Corzana F, Sánchez-Fernández EM, Busto JH, Avenoza A, Zurbano MM, Nanba E, Higaki K, Ortiz Mellet C, García Fernández JM, Peregrina JM.

Org Biomol Chem. 2016 Jan 28;14(4):1473-84. doi: 10.1039/c5ob02281a. Epub 2015 Dec 21.

PMID:
26690983
33.

[Chemical chaperone therapy for lysosomal storage diseases].

Higaki K, Nanba E.

Seikagaku. 2015 Oct;87(5):597-600. Review. Japanese. No abstract available.

PMID:
26638628
34.

Efficient stereoselective synthesis of 2-acetamido-1,2-dideoxyallonojirimycin (DAJNAc) and sp(2)-iminosugar conjugates: Novel hexosaminidase inhibitors with discrimination capabilities between the mature and precursor forms of the enzyme.

de la Fuente A, Rísquez-Cuadro R, Verdaguer X, García Fernández JM, Nanba E, Higaki K, Ortiz Mellet C, Riera A.

Eur J Med Chem. 2016 Oct 4;121:926-938. doi: 10.1016/j.ejmech.2015.10.038. Epub 2015 Oct 26.

35.

pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases.

Mena-Barragán T, Narita A, Matias D, Tiscornia G, Nanba E, Ohno K, Suzuki Y, Higaki K, Garcia Fernández JM, Ortiz Mellet C.

Angew Chem Int Ed Engl. 2015 Sep 28;54(40):11696-700. doi: 10.1002/anie.201505147. Epub 2015 Aug 7.

PMID:
26386364
36.

Inhibitor versus chaperone behaviour of d-fagomine, DAB and LAB sp(2)-iminosugar conjugates against glycosidases: A structure-activity relationship study in Gaucher fibroblasts.

Mena-Barragán T, García-Moreno MI, Nanba E, Higaki K, Concia AL, Clapés P, García Fernández JM, Ortiz Mellet C.

Eur J Med Chem. 2016 Oct 4;121:880-891. doi: 10.1016/j.ejmech.2015.08.038. Epub 2015 Aug 31.

PMID:
26361824
37.

[Fragile X syndrome: a review of diagnosis and treatment].

Nanba E.

No To Hattatsu. 2015 Mar;47(2):112-6. Review. Japanese. No abstract available.

PMID:
26349368
38.

Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.

Hossain MA, Higaki K, Shinpo M, Nanba E, Suzuki Y, Ozono K, Sakai N.

Brain Dev. 2016 Feb;38(2):175-80. doi: 10.1016/j.braindev.2015.07.006. Epub 2015 Aug 7.

PMID:
26259553
39.
40.

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.

Hossain MA, Higaki K, Saito S, Ohno K, Sakuraba H, Nanba E, Suzuki Y, Ozono K, Sakai N.

J Hum Genet. 2015 Sep;60(9):539-45. doi: 10.1038/jhg.2015.61. Epub 2015 Jun 25.

PMID:
26108143
41.

Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.

Fujimoto M, Kawashima Sonoyama Y, Hamajima N, Hamajima T, Kumura Y, Miyahara N, Nishimura R, Adachi K, Nanba E, Hanaki K, Kanzaki S.

Clin Endocrinol (Oxf). 2015 Dec;83(6):834-41. doi: 10.1111/cen.12791. Epub 2015 May 11.

PMID:
25866162
42.

Reactivation of persistent Epstein-Barr virus (EBV) causes secretion of thyrotropin receptor antibodies (TRAbs) in EBV-infected B lymphocytes with TRAbs on their surface.

Nagata K, Nakayama Y, Higaki K, Ochi M, Kanai K, Matsushita M, Kuwamoto S, Kato M, Murakami I, Iwasaki T, Nanba E, Kimura H, Hayashi K.

Autoimmunity. 2015;48(5):328-35. doi: 10.3109/08916934.2015.1022163. Epub 2015 Mar 11.

PMID:
25759125
43.

Recurrent micronucleation through cell cycle progression in the presence of microtubule inhibitors.

Nakayama Y, Uno N, Uno K, Mizoguchi Y, Komoto S, Kazuki Y, Nanba E, Inoue T, Oshimura M.

Cell Struct Funct. 2015;40(1):51-9. doi: 10.1247/csf.14005. Epub 2015 Jan 9.

44.

Conformationally-locked N-glycosides: exploiting long-range non-glycone interactions in the design of pharmacological chaperones for Gaucher disease.

Castilla J, Rísquez R, Higaki K, Nanba E, Ohno K, Suzuki Y, Díaz Y, Ortiz Mellet C, García Fernández JM, Castillón S.

Eur J Med Chem. 2015 Jan 27;90:258-66. doi: 10.1016/j.ejmech.2014.11.002. Epub 2014 Nov 4.

PMID:
25461326
45.

Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.

Fujimoto M, Okada S, Kawashima Y, Nishimura R, Miyahara N, Kawaba Y, Hanaki K, Nanba E, Kondo Y, Igarashi T, Kanzaki S.

Yonago Acta Med. 2014 Jun;57(2):85-91. Epub 2014 Jul 30.

46.

Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat.

Utami SB, Mahati E, Li P, Maharani N, Ikeda N, Bahrudin U, Munemura C, Hosoyamada M, Yamamoto Y, Yoshida A, Nakayama Y, Higaki K, Nanba E, Ninomiya H, Shirayoshi Y, Ichida K, Yamamoto K, Hosoya T, Hisatome I.

Clin Exp Nephrol. 2015 Aug;19(4):576-84. doi: 10.1007/s10157-014-1032-8. Epub 2014 Sep 20.

PMID:
25239792
47.

Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants.

Yu Y, Mena-Barragán T, Higaki K, Johnson JL, Drury JE, Lieberman RL, Nakasone N, Ninomiya H, Tsukimura T, Sakuraba H, Suzuki Y, Nanba E, Mellet CO, García Fernández JM, Ohno K.

ACS Chem Biol. 2014 Jul 18;9(7):1460-9. doi: 10.1021/cb500143h. Epub 2014 May 12.

PMID:
24783948
48.

Structural basis of pharmacological chaperoning for human β-galactosidase.

Suzuki H, Ohto U, Higaki K, Mena-Barragán T, Aguilar-Moncayo M, Ortiz Mellet C, Nanba E, Garcia Fernandez JM, Suzuki Y, Shimizu T.

J Biol Chem. 2014 May 23;289(21):14560-8. doi: 10.1074/jbc.M113.529529. Epub 2014 Apr 15.

49.

Targeted delivery of pharmacological chaperones for Gaucher disease to macrophages by a mannosylated cyclodextrin carrier.

Rodríguez-Lavado J, de la Mata M, Jiménez-Blanco JL, García-Moreno MI, Benito JM, Díaz-Quintana A, Sánchez-Alcázar JA, Higaki K, Nanba E, Ohno K, Suzuki Y, Ortiz Mellet C, García Fernández JM.

Org Biomol Chem. 2014 Apr 14;12(14):2289-301. doi: 10.1039/c3ob42530d.

PMID:
24589885
50.

Posterior subthalamic area deep brain stimulation for fragile X-associated tremor/ataxia syndrome.

Oyama G, Umemura A, Shimo Y, Nishikawa N, Nakajima A, Jo T, Nakajima M, Ishii H, Yamada D, Takanashi M, Arai H, Nanba E, Hattori N.

Neuromodulation. 2014 Dec;17(8):721-3. doi: 10.1111/ner.12150. Epub 2014 Feb 14. No abstract available.

PMID:
24528808

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