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Items: 1 to 50 of 146

1.

Biallelic loss of GNAS in a patient with pediatric medulloblastoma.

Tokita MJ, Nahas S, Briggs B, Malicki DM, Mesirov JP, Reyes IAC, Farnaes L, Levy ML, Kingsmore SF, Dimmock D, Crawford JR, Wechsler-Reya RJ.

Cold Spring Harb Mol Case Stud. 2019 Oct 17. pii: mcs.a004572. doi: 10.1101/mcs.a004572. [Epub ahead of print]

2.

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D; RCIGM Investigators.

Am J Hum Genet. 2019 Oct 3;105(4):719-733. doi: 10.1016/j.ajhg.2019.08.009. Epub 2019 Sep 26.

PMID:
31564432
3.

TWIST1 Heterodimerization with E12 Requires Coordinated Protein Phosphorylation to Regulate Periostin Expression.

Mikheeva SA, Camp ND, Huang L, Jain A, Jung SY, Avci NG, Tokita M, Wolf-Yadlin A, Zhang J, Tapscott SJ, Rostomily RC, Mikheev AM.

Cancers (Basel). 2019 Sep 18;11(9). pii: E1392. doi: 10.3390/cancers11091392.

4.

Effects of an internet-based cognitive behavioral therapy (iCBT) intervention on improving depressive symptoms and work-related outcomes among nurses in Japan: a protocol for a randomized controlled trial.

Kuribayashi K, Imamura K, Watanabe K, Miyamoto Y, Takano A, Sawada U, Sasaki N, Suga M, Sugino A, Hidaka Y, Iida M, Sudo M, Tokita M, Kawakami N.

BMC Psychiatry. 2019 Aug 7;19(1):245. doi: 10.1186/s12888-019-2221-5.

5.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P.

Genome Med. 2019 Jul 26;11(1):48. doi: 10.1186/s13073-019-0658-2.

6.

Normal embryonic development of the greater horseshoe bat Rhinolophus ferrumequinum, with special reference to nose leaf formation.

Usui K, Tokita M.

J Morphol. 2019 Sep;280(9):1309-1322. doi: 10.1002/jmor.21032. Epub 2019 Jul 1.

PMID:
31260578
7.

Advancements in Gel Science-A Special Issue in the Memory of Toyoichi Tanaka.

Tokita M.

Gels. 2019 Jun 26;5(3). pii: E33. doi: 10.3390/gels5030033.

8.

Neonatal diabetes mellitus due to a novel variant in the INS gene.

Laurenzano SE, McFall C, Nguyen L, Savla D, Coufal NG, Wright MS, Tokita M, Dimmock D, Kingsmore SF, Newfield RS.

Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004085. doi: 10.1101/mcs.a004085. Print 2019 Aug.

9.

Physical Meanings of Fractal Behaviors of Water in Aqueous and Biological Systems with Open-Ended Coaxial Electrodes.

Yagihara S, Kita R, Shinyashiki N, Saito H, Maruyama Y, Kawaguchi T, Shoji K, Saito T, Aoyama T, Shimazaki K, Matsumoto K, Fukuzaki M, Masuda H, Hiraiwa S, Asami K, Tokita M.

Sensors (Basel). 2019 Jun 8;19(11). pii: E2606. doi: 10.3390/s19112606.

10.

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF.

Sci Transl Med. 2019 Apr 24;11(489). pii: eaat6177. doi: 10.1126/scitranslmed.aat6177.

PMID:
31019026
11.

Early weaning increases anxiety via brain-derived neurotrophic factor signaling in the mouse prefrontal cortex.

Kikusui T, Kanbara N, Ozaki M, Hirayama N, Ida K, Tokita M, Tanabe N, Mitsuyama K, Abe H, Yoshida M, Nagasawa M, Mogi K.

Sci Rep. 2019 Mar 8;9(1):3991. doi: 10.1038/s41598-019-40530-9.

12.

Validation of wearable textile electrodes for ECG monitoring.

Tsukada YT, Tokita M, Murata H, Hirasawa Y, Yodogawa K, Iwasaki YK, Asai K, Shimizu W, Kasai N, Nakashima H, Tsukada S.

Heart Vessels. 2019 Jul;34(7):1203-1211. doi: 10.1007/s00380-019-01347-8. Epub 2019 Jan 24.

13.

Dynamic Behaviors of Solvent Molecules Restricted in Poly (Acryl Amide) Gels Analyzed by Dielectric and Diffusion NMR Spectroscopy.

Saito H, Kato S, Matsumoto K, Umino Y, Kita R, Shinyashiki N, Yagihara S, Fukuzaki M, Tokita M.

Gels. 2018 Jun 22;4(3). pii: E56. doi: 10.3390/gels4030056.

14.

Dynamics of Spinodal Decomposition in a Ternary Gelling System.

Yamashita Y, Yanagisawa M, Tokita M.

Gels. 2018 Mar 22;4(2). pii: E26. doi: 10.3390/gels4020026.

15.

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing.

Sanford E, Farnaes L, Batalov S, Bainbridge M, Laubach S, Worthen HM, Tokita M, Kingsmore SF, Bradley J.

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). pii: a003244. doi: 10.1101/mcs.a003244. Print 2018 Dec.

16.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M.

Hum Mutat. 2019 Mar;40(3):267-280. doi: 10.1002/humu.23694. Epub 2018 Dec 25.

17.

Allometry and integration do not strongly constrain beak shape evolution in large-billed (Corvus macrorhynchos) and carrion crows (Corvus corone).

Yamasaki T, Aoki S, Tokita M.

Ecol Evol. 2018 Sep 21;8(20):10057-10066. doi: 10.1002/ece3.4440. eCollection 2018 Oct.

18.

Terminal Functionalization with a Triptycene Motif That Dramatically Changes the Structural and Physical Properties of an Amorphous Polymer.

Ishiwari F, Okabe G, Ogiwara H, Kajitani T, Tokita M, Takata M, Fukushima T.

J Am Chem Soc. 2018 Oct 17;140(41):13497-13502. doi: 10.1021/jacs.8b09242. Epub 2018 Oct 8.

PMID:
30281289
19.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.

Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28.

20.

Creating diversity in mammalian facial morphology: a review of potential developmental mechanisms.

Usui K, Tokita M.

Evodevo. 2018 Jun 14;9:15. doi: 10.1186/s13227-018-0103-4. eCollection 2018. Review.

21.

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.

Petersen AK, Streff H, Tokita M, Bostwick BL.

Am J Med Genet A. 2018 Jul;176(7):1667-1669. doi: 10.1002/ajmg.a.38835. Epub 2018 May 9.

PMID:
29740950
22.

Characterization of the Adaptive Morphology of Japanese Stream Toad (Bufo torrenticola) Using Geometric Morphometrics.

Tokita M, Hasegawa Y, Yano W, Tsuji H.

Zoolog Sci. 2018 Feb;35(1):99-108. doi: 10.2108/zs170099.

PMID:
29417890
23.

Is There a Common Summary Statistical Process for Representing the Mean and Variance? A Study Using Illustrations of Familiar Items.

Yang Y, Tokita M, Ishiguchi A.

Iperception. 2018 Jan 25;9(1):2041669517747297. doi: 10.1177/2041669517747297. eCollection 2018 Jan-Feb.

24.

Twist1 mediated regulation of glioma tumorigenicity is dependent on mode of mouse neural progenitor transformation.

Mikheev AM, Mikheeva SA, Tokita M, Severs LJ, Rostomily RC.

Oncotarget. 2017 Nov 21;8(64):107716-107729. doi: 10.18632/oncotarget.22593. eCollection 2017 Dec 8.

25.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

26.

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA.

Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23.

27.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J.

Genet Med. 2017 Aug;19(8):936-944. doi: 10.1038/gim.2016.215. Epub 2017 Jan 26.

PMID:
28125085
28.

Cranial shape evolution in adaptive radiations of birds: comparative morphometrics of Darwin's finches and Hawaiian honeycreepers.

Tokita M, Yano W, James HF, Abzhanov A.

Philos Trans R Soc Lond B Biol Sci. 2017 Feb 5;372(1713). pii: 20150481.

29.

The effects of workplace psychosocial factors on whether Japanese dual-earner couples with preschool children have additional children: a prospective study.

Eguchi H, Shimazu A, Fujiwara T, Iwata N, Shimada K, Takahashi M, Tokita M, Watai I, Kawakami N.

Ind Health. 2016 Dec 7;54(6):498-504. Epub 2016 Oct 18.

30.

Werner syndrome through the lens of tissue and tumour genomics.

Tokita M, Kennedy SR, Risques RA, Chun SG, Pritchard C, Oshima J, Liu Y, Bryant-Greenwood PK, Welcsh P, Monnat RJ.

Sci Rep. 2016 Aug 25;6:32038. doi: 10.1038/srep32038.

31.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA.

Am J Hum Genet. 2016 Sep 1;99(3):720-727. doi: 10.1016/j.ajhg.2016.06.035. Epub 2016 Aug 18.

32.

Two-Dimensional Skyrmion Lattice Formation in a Nematic Liquid Crystal Consisting of Highly Bent Banana Molecules.

Kang S, Lee EW, Li T, Liang X, Tokita M, Nakajima K, Watanabe J.

Angew Chem Int Ed Engl. 2016 Sep 12;55(38):11552-6. doi: 10.1002/anie.201606388. Epub 2016 Aug 11.

PMID:
27511324
33.

Feasibility and effectiveness of a cosmetic intervention program for institutionalized older women in Japan.

Hayakawa Y, Shoji I, Kumon H, Tokita M, Kamata M, Arao T.

Prev Med Rep. 2016 Jun 16;4:242-7. doi: 10.1016/j.pmedr.2016.06.009. eCollection 2016 Dec.

34.

Evidence for a Global Sampling Process in Extraction of Summary Statistics of Item Sizes in a Set.

Tokita M, Ueda S, Ishiguchi A.

Front Psychol. 2016 May 13;7:711. doi: 10.3389/fpsyg.2016.00711. eCollection 2016.

35.

Transport Phenomena in Gel.

Tokita M.

Gels. 2016 May 11;2(2). pii: E17. doi: 10.3390/gels2020017. Review.

36.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L.

PLoS Genet. 2016 Apr 27;12(4):e1005848. doi: 10.1371/journal.pgen.1005848. eCollection 2016 Apr.

37.

Association between Parental Workaholism and Body Mass Index of Offspring: A Prospective Study among Japanese Dual Workers.

Fujiwara T, Shimazu A, Tokita M, Shimada K, Takahashi M, Watai I, Iwata N, Kawakami N.

Front Public Health. 2016 Mar 17;4:41. doi: 10.3389/fpubh.2016.00041. eCollection 2016.

38.

Case of metachronous and multifocal extramammary Paget's disease.

Waki Y, Nobeyama Y, Mori A, Tokita M, Itoh M, Nakagawa H.

J Dermatol. 2016 Jun;43(6):723-4. doi: 10.1111/1346-8138.13254. Epub 2016 Feb 12. No abstract available.

PMID:
26872038
39.

Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

Tokita MJ, Sybert VP.

Am J Med Genet A. 2016 May;170A(5):1196-201. doi: 10.1002/ajmg.a.37551. Epub 2016 Jan 20.

PMID:
26789280
40.

Precision and Bias in Approximate Numerical Judgment in Auditory, Tactile, and Cross-modal Presentation.

Tokita M, Ishiguchi A.

Perception. 2016 Jan-Feb;45(1-2):56-70. doi: 10.1177/0301006615596888. Epub 2015 Aug 14.

PMID:
26562851
41.

A molecular mechanism for the origin of a key evolutionary innovation, the bird beak and palate, revealed by an integrative approach to major transitions in vertebrate history.

Bhullar BA, Morris ZS, Sefton EM, Tok A, Tokita M, Namkoong B, Camacho J, Burnham DA, Abzhanov A.

Evolution. 2015 Jul;69(7):1665-77. doi: 10.1111/evo.12684. Epub 2015 Jun 30.

PMID:
25964090
42.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

43.

Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes.

Kumar A, Boyle EA, Tokita M, Mikheev AM, Sanger MC, Girard E, Silber JR, Gonzalez-Cuyar LF, Hiatt JB, Adey A, Lee C, Kitzman JO, Born DE, Silbergeld DL, Olson JM, Rostomily RC, Shendure J.

Genome Biol. 2014 Dec 3;15(12):530. doi: 10.1186/s13059-014-0530-z.

44.

Perception of the material properties of wood based on vision, audition, and touch.

Fujisaki W, Tokita M, Kariya K.

Vision Res. 2015 Apr;109:185-200. doi: 10.1016/j.visres.2014.11.020. Epub 2015 Jan 6.

45.

How the pterosaur got its wings.

Tokita M.

Biol Rev Camb Philos Soc. 2015 Nov;90(4):1163-78. doi: 10.1111/brv.12150. Epub 2014 Oct 31. Review.

PMID:
25361444
46.

Multiple patterns of polymer gels in microspheres due to the interplay among phase separation, wetting, and gelation.

Yanagisawa M, Nigorikawa S, Sakaue T, Fujiwara K, Tokita M.

Proc Natl Acad Sci U S A. 2014 Nov 11;111(45):15894-9. doi: 10.1073/pnas.1416592111. Epub 2014 Oct 27.

47.

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.

Tokita MJ, Chow PM, Mirzaa G, Dikow N, Maas B, Isidor B, Le Caignec C, Penney LS, Mazzotta G, Bernardini L, Filippi T, Battaglia A, Donti E, Earl D, Prontera P.

Eur J Hum Genet. 2015 Jun;23(6):761-5. doi: 10.1038/ejhg.2014.202. Epub 2014 Oct 1.

48.

Periostin is a novel therapeutic target that predicts and regulates glioma malignancy.

Mikheev AM, Mikheeva SA, Trister AD, Tokita MJ, Emerson SN, Parada CA, Born DE, Carnemolla B, Frankel S, Kim DH, Oxford RG, Kosai Y, Tozer-Fink KR, Manning TC, Silber JR, Rostomily RC.

Neuro Oncol. 2015 Mar;17(3):372-82. doi: 10.1093/neuonc/nou161. Epub 2014 Aug 19.

49.

Alkylated cage silsesquioxane forming a long-range straight ordered hierarchical lamellar nanostructure.

Wang L, Ishida Y, Maeda R, Tokita M, Horiuchi S, Hayakawa T.

Langmuir. 2014 Aug 19;30(32):9797-803. doi: 10.1021/la501728z. Epub 2014 Aug 8.

PMID:
25007205
50.

Bent molecules with a 60° central core angle that form B7 and B2 phases.

Lee EW, Takimoto K, Tokita M, Watanabe J, Kang S.

Angew Chem Int Ed Engl. 2014 Jul 28;53(31):8216-20. doi: 10.1002/anie.201403762. Epub 2014 Jun 24.

PMID:
24961402

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