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Items: 1 to 50 of 216

1.

Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.

Izumi Y, Hamaguchi A, Miura R, Nakagawa T, Nakagawa M, Saida K, Miyake N, Nagayoshi Y, Kakizoe Y, Miyoshi T, Kohda Y, Misumi Y, Matsumoto N, Ando Y, Mukoyama M.

CEN Case Rep. 2019 Nov 1. doi: 10.1007/s13730-019-00429-w. [Epub ahead of print]

2.

A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.

Saida K, Kamei K, Morisada N, Ogura M, Ogata K, Matsuoka K, Nozu K, Iijima K, Ito S.

CEN Case Rep. 2019 Sep 19. doi: 10.1007/s13730-019-00419-y. [Epub ahead of print]

3.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N.

J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17.

PMID:
31530938
4.

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.

Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N.

J Hum Genet. 2019 Sep;64(9):885-890. doi: 10.1038/s10038-019-0626-0. Epub 2019 Jul 4.

PMID:
31270375
5.

A mutation analysis of the EGFR pathway genes, RAS, EGFR, PIK3CA, AKT1 and BRAF, and TP53 gene in thymic carcinoma and thymoma type A/B3.

Sakane T, Murase T, Okuda K, Saida K, Masaki A, Yamada T, Saito Y, Nakanishi R, Inagaki H.

Histopathology. 2019 Nov;75(5):755-766. doi: 10.1111/his.13936. Epub 2019 Oct 3.

PMID:
31179560
6.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N.

Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9.

7.

Azathioprine-induced Agranulocytosis and Severe Alopecia After Kidney Transplantation Associated With a NUDT15 Polymorphism: A Case Report.

Saida K, Kamei K, Ogura M, Matsumura S, Kano Y, Sato M, Andoh A, Ishikura K.

Transplant Proc. 2018 Dec;50(10):3925-3927. doi: 10.1016/j.transproceed.2018.04.039. Epub 2018 Apr 18.

PMID:
30577288
8.

SOFT syndrome in a patient from Chile.

Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N.

Am J Med Genet A. 2019 Mar;179(3):338-340. doi: 10.1002/ajmg.a.61015. Epub 2018 Dec 20.

PMID:
30569574
9.

Treatment of hemolytic uremic syndrome related to Bordetella pertussis infection -is plasma exchange or eculizumab use necessary?

Saida K, Ogura M, Kano Y, Ishimori S, Yoshikawa T, Nagata H, Sato M, Kamei K, Ishikura K.

BMC Nephrol. 2018 Dec 17;19(1):365. doi: 10.1186/s12882-018-1168-y.

10.

Adenoid Cystic Carcinoma With Sialolithiasis of the Left Submandibular Gland: A Case Report and Literature Review.

Miyabe S, Ishibashi K, Saida K, Fujiyoshi Y, Fukano H, Ueda K, Ueda S, Watanabe S, Nagao T.

Int J Surg Pathol. 2019 May;27(3):305-310. doi: 10.1177/1066896918814304. Epub 2018 Nov 27. Review.

PMID:
30482073
11.

Postoperative radiotherapy for T1/2N0M0 mucoepidermoid carcinoma positive for CRTC1/3-MAML2 fusions.

Okumura Y, Murase T, Saida K, Fujii K, Takino H, Masaki A, Ijichi K, Shimozato K, Tada Y, Nibu KI, Inagaki H.

Head Neck. 2018 Dec;40(12):2565-2573. doi: 10.1002/hed.24856. Epub 2018 Nov 26.

PMID:
30475407
12.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

13.

Prognostic impact of incisional or excisional biopsy of cervical lymph node metastases of solid tumors.

Shinohara S, Takebayashi S, Kikuchi M, Michida T, Hayashi K, Yamamoto R, Saida K, Mizuno K, Fujiwara K, Naito Y.

Jpn J Clin Oncol. 2018 Jun 1;48(6):529-534. doi: 10.1093/jjco/hyy056.

PMID:
29688530
14.

Mutation analysis of the EGFR pathway genes, EGFR, RAS, PIK3CA, BRAF, and AKT1, in salivary gland adenoid cystic carcinoma.

Saida K, Murase T, Ito M, Fujii K, Takino H, Masaki A, Kawakita D, Ijichi K, Tada Y, Kusafuka K, Iida Y, Onitsuka T, Yatabe Y, Hanai N, Hasegawa Y, Shinomiya H, Nibu KI, Shimozato K, Inagaki H.

Oncotarget. 2018 Mar 30;9(24):17043-17055. doi: 10.18632/oncotarget.24818. eCollection 2018 Mar 30.

15.

Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.

Miyata Y, Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N.

Brain Dev. 2018 Aug;40(7):566-569. doi: 10.1016/j.braindev.2018.03.012. Epub 2018 Apr 17.

PMID:
29678278
16.

Facial flushing after alcohol intake as a predictor for a high risk of synchronous or metachronous cancer of the upper gastrointestinal tract.

Harada H, Shinohara S, Takebayashi S, Kikuchi M, Fujiwara K, Michida T, Yamamoto R, Hayashi K, Saida K, Naito Y.

Jpn J Clin Oncol. 2017 Dec 1;47(12):1123-1128. doi: 10.1093/jjco/hyx150.

PMID:
29136221
17.

Coagulopathy as a complication of kidney biopsies in paediatric systemic lupus erythematosus patients with antiphospholipid syndrome.

Nagata H, Sato M, Ogura M, Yoshikawa T, Yamamoto K, Matsumura S, Kano Y, Saida K, Sako M, Kamei K, Yoshioka T, Ogata K, Ito S, Ishikura K.

Nephrology (Carlton). 2018 Jun;23(6):592-596. doi: 10.1111/nep.13175.

PMID:
28976051
18.

Improved clonality detection in B-cell lymphoma using a semi-nested modification of the BIOMED-2 PCR assay for IGH rearrangement: A paraffin-embedded tissue study.

Sakamoto Y, Masaki A, Aoyama S, Han S, Saida K, Fujii K, Takino H, Murase T, Iida S, Inagaki H.

Pathol Int. 2017 Sep;67(9):453-460. doi: 10.1111/pin.12566.

PMID:
28868745
19.

Successful therapy switch from eculizumab to mycophenolate mofetil in a girl with DEAP-HUS.

Saida K, Ito S.

Pediatr Nephrol. 2017 Oct;32(10):1997-1998. doi: 10.1007/s00467-017-3738-9. Epub 2017 Jul 12. No abstract available.

PMID:
28702762
20.

Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.

Yoshikawa T, Kamei K, Nagata H, Saida K, Sato M, Ogura M, Ito S, Miyazaki O, Urushihara M, Kondo S, Sugawara N, Ishizuka K, Hamasaki Y, Shishido S, Morisada N, Iijima K, Nagata M, Yoshioka T, Ogata K, Ishikura K.

Nephrology (Carlton). 2017 Jul;22(7):566-571. doi: 10.1111/nep.12996.

PMID:
28621010
21.

MYB, MYBL1, MYBL2 and NFIB gene alterations and MYC overexpression in salivary gland adenoid cystic carcinoma.

Fujii K, Murase T, Beppu S, Saida K, Takino H, Masaki A, Ijichi K, Kusafuka K, Iida Y, Onitsuka T, Yatabe Y, Hanai N, Hasegawa Y, Inagaki H.

Histopathology. 2017 Nov;71(5):823-834. doi: 10.1111/his.13281. Epub 2017 Aug 16.

PMID:
28594149
22.

Striated duct adenoma presenting with intra-tumoral hematoma and papillary thyroid carcinoma-like histology.

Ito Y, Fujii K, Murase T, Saida K, Okumura Y, Takino H, Masaki A, Beppu S, Kawakita D, Ijichi K, Inagaki H.

Pathol Int. 2017 Jun;67(6):316-321. doi: 10.1111/pin.12534. Epub 2017 Apr 25.

PMID:
28440555
23.

Expression of cancer/testis antigens in salivary gland carcinomas with reference to MAGE-A and NY-ESO-1 expression in adenoid cystic carcinoma.

Beppu S, Ito Y, Fujii K, Saida K, Takino H, Masaki A, Murase T, Kusafuka K, Iida Y, Onitsuka T, Yatabe Y, Hanai N, Hasegawa Y, Ijichi K, Murakami S, Inagaki H.

Histopathology. 2017 Aug;71(2):305-315. doi: 10.1111/his.13226. Epub 2017 Jun 2.

PMID:
28370175
24.

Ampicillin- and ampicillin/sulbactam-resistant Escherichia coli infection in a neonatal intensive care unit in Japan.

Saida K, Ito Y, Shima Y, Kasuga E, Kusakari M, Miyosawa Y, Baba A.

Pediatr Int. 2016 Jun;58(6):537-9. doi: 10.1111/ped.12984.

PMID:
27322865
25.

Low-grade cribriform cystadenocarcinoma arising from a minor salivary gland: a case report.

Kimura M, Mii S, Sugimoto S, Saida K, Morinaga S, Umemura M.

J Oral Sci. 2016;58(1):145-9. doi: 10.2334/josnusd.58.145.

26.

Therapeutic potential of endothelin inhibitors in canine hemangiosarcoma.

Fukumoto S, Saida K, Sakai H, Ueno H, Iwano H, Uchide T.

Life Sci. 2016 Aug 15;159:55-60. doi: 10.1016/j.lfs.2016.01.047. Epub 2016 Feb 1.

PMID:
26835989
27.

Retinal hemorrhages following fingolimod treatment for multiple sclerosis; a case report.

Ueda N, Saida K.

BMC Ophthalmol. 2015 Oct 19;15:135. doi: 10.1186/s12886-015-0125-9.

28.

The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

Hirano M, Satake W, Ihara K, Tsuge I, Kondo S, Saida K, Betsui H, Okubo K, Sakamoto H, Ueno S, Ikuno Y, Ishihara R, Iwahashi H, Ohishi M, Mano T, Yamashita T, Suzuki Y, Nakamura Y, Kusunoki S, Toda T.

PLoS One. 2015 Sep 1;10(9):e0136317. doi: 10.1371/journal.pone.0136317. eCollection 2015.

29.

Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan.

Ito N, Hataya H, Saida K, Amano Y, Hidaka Y, Motoyoshi Y, Ohta T, Yoshida Y, Terano C, Iwasa T, Kubota W, Takada H, Hara T, Fujimura Y, Ito S.

Clin Exp Nephrol. 2016 Apr;20(2):265-72. doi: 10.1007/s10157-015-1142-y. Epub 2015 Jul 9.

PMID:
26156042
30.

Big endothelin-1 as a tumour marker for canine haemangiosarcoma.

Fukumoto S, Miyasho T, Hanazono K, Saida K, Kadosawa T, Iwano H, Uchide T.

Vet J. 2015 Jun;204(3):269-74. doi: 10.1016/j.tvjl.2015.03.024. Epub 2015 Mar 25.

PMID:
25920760
31.

A case of adult Dent disease in Japan with advanced chronic kidney disease.

Saida K, Kamijo Y, Matsuoka D, Noda S, Hidaka Y, Mori T, Shimojo H, Ehara T, Miura K, Takita J, Sekine T, Igarashi T, Koike K.

CEN Case Rep. 2014 Nov;3(2):132-138. doi: 10.1007/s13730-013-0102-1. Epub 2013 Nov 2.

32.

Exfoliative toxin A staphylococcal scalded skin syndrome in preterm infants.

Saida K, Kawasaki K, Hirabayashi K, Akazawa Y, Kubota S, Kasuga E, Kusakari M, Ishida T, Kitamura M, Baba A, Koike K.

Eur J Pediatr. 2015 Apr;174(4):551-5. doi: 10.1007/s00431-014-2414-3. Epub 2014 Sep 7.

PMID:
25194957
33.

Rituximab-associated agranulocytosis in children with refractory idiopathic nephrotic syndrome: case series and review of literature.

Kamei K, Takahashi M, Fuyama M, Saida K, Machida H, Sato M, Ogura M, Ito S.

Nephrol Dial Transplant. 2015 Jan;30(1):91-6. doi: 10.1093/ndt/gfu258. Epub 2014 Aug 1. Review.

PMID:
25085238
34.

Effect of feeding behavior on circadian regulation of endothelin expression in mouse colon.

Kozakai T, Sakate M, Takizawa S, Uchide T, Kobayashi H, Oishi K, Ishida N, Saida K.

Life Sci. 2014 Nov 24;118(2):232-7. doi: 10.1016/j.lfs.2014.06.022. Epub 2014 Jul 8.

35.

A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.

Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K.

Brain Dev. 2014 Sep;36(8):721-4. doi: 10.1016/j.braindev.2013.10.013. Epub 2013 Nov 26.

PMID:
24290075
36.

Preoperative left ventricular internal dimension in end-diastole as earlier identification of early patent ductus arteriosus operation and postoperative intensive care in very low birth weight infants.

Saida K, Nakamura T, Hiroma T, Takigiku K, Yasukochi S.

Early Hum Dev. 2013 Oct;89(10):821-3. doi: 10.1016/j.earlhumdev.2013.07.011. Epub 2013 Jul 31.

PMID:
23916057
37.

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

Sugiura K, Takeichi T, Tanahashi K, Ito Y, Kosho T, Saida K, Uhara H, Okuyama R, Akiyama M.

J Dermatol Sci. 2013 Nov;72(2):193-5. doi: 10.1016/j.jdermsci.2013.06.008. Epub 2013 Jun 28. No abstract available.

PMID:
23871423
38.

(Z)-4-(2-Hy-droxy-anilino)pent-3-en-2-one.

Fatiha B, Saida K, Safia C, Ali O, Lydia B.

Acta Crystallogr Sect E Struct Rep Online. 2012 Jul 1;68(Pt 7):o2188-9. doi: 10.1107/S1600536812027894. Epub 2012 Jun 23.

39.

4-[(3-Hy-droxy-anil-ino)-(phenyl)-methyl-idene]-3-methyl-1-phenyl-1H-pyrazol-5(4H)-one.

Saida K, Fatiha B, Ouarda D, Ali O, Kamel O, Brelot L.

Acta Crystallogr Sect E Struct Rep Online. 2012 Jun 1;68(Pt 6):o1909-10. doi: 10.1107/S1600536812023082. Epub 2012 May 26.

40.

Endothelin system in intestinal villi: A possible role of endothelin-2/vasoactive intestinal contractor in the maintenance of intestinal architecture.

Bianchi M, Adur J, Takizawa S, Saida K, Casco VH.

Biochem Biophys Res Commun. 2012 Jan 27;417(4):1113-8. doi: 10.1016/j.bbrc.2011.12.053. Epub 2011 Dec 24.

PMID:
22209790
41.

Right-to-left shunting in the ductus arteriosus is induced readily by intense crying and rapid postural change in neonates with meconium-stained amniotic fluid.

Baba A, Ishida T, Okada M, Akazawa Y, Hirabayashi K, Saida K, Sakaguchi K, Koike K.

Pediatr Crit Care Med. 2012 Jan;13(1):60-5. doi: 10.1097/PCC.0b013e3182191a35.

PMID:
21460760
42.

Regulation of endothelin-1 expression and function by nutrient stress in mouse colon epithelia.

Kozakai T, Sakate M, Saida K.

Scand J Gastroenterol. 2008;43(7):886-94. doi: 10.1080/00365520701792372.

PMID:
18584528
44.

High doses of ultraviolet-C irradiation increases vasoactive intestinal contractor/endothelin-2 expression in keratinocytes of the newborn mouse epidermis.

Adur J, Takizawa S, Uchide T, Casco V, Saida K.

Peptides. 2007 May;28(5):1083-94. Epub 2007 Mar 27.

PMID:
17449143
45.

Endothelin-2/vasoactive intestinal contractor via ROCK regulates transglutaminase 1 on differentiation of mouse keratinocytes.

Kotake-Nara E, Takizawa S, Saida K.

Biochem Biophys Res Commun. 2007 May 25;357(1):168-73. Epub 2007 Mar 28.

PMID:
17418814
46.

[A case of anti-MuSK antibody-positive myasthenia gravis with dropped head as the initial presenting symptom].

Okano T, Fujitake J, Suzuki K, Mori N, Sonobe M, Ohta K, Nakane S, Saida K.

Rinsho Shinkeigaku. 2006 Jul;46(7):496-500. Japanese.

PMID:
17061704
47.

Rapid detection of mycoplasma contamination in cell cultures using SYBR Green-based real-time polymerase chain reaction.

Ishikawa Y, Kozakai T, Morita H, Saida K, Oka S, Masuo Y.

In Vitro Cell Dev Biol Anim. 2006 Mar-Apr;42(3-4):63-9.

PMID:
16759150
49.

cDNA cloning and sequence analysis of preproendothelin-1 (PPET-1) from salmon, Oncorhynchus keta.

Wang H, Quan J, Kotake-Nara E, Uchide T, Andoh T, Saida K.

Exp Biol Med (Maywood). 2006 Jun;231(6):709-12.

PMID:
16740985

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