Works by Hisama

Results: 73

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

Published in:

Neurogenetics, 2007, v. 8, n. 2, p. 131, doi. 10.1007/s10048-006-0071-z

By:

Chen, Haijun;
Hehn, Christian;
Kaczmarek, Leonard;
Ment, Laura;
Pober, Barbara;
Hisama, Fuki

Publication type:

Article

Porphyrin Network Polymers Prepared via a Click Reaction and Facilitated Oxygen Permeation Through Their Membranes.

Published in:

Macromolecular Rapid Communications, 2014, v. 35, n. 10, p. 976, doi. 10.1002/marc.201400038

By:

Chikushi, Natsuru;
Ohara, Emiko;
Hisama, Ayako;
Nishide, Hiroyuki

Publication type:

Article

<italic>ERCC4</italic> variants identified in a cohort of patients with segmental progeroid syndromes.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 255, doi. 10.1002/humu.23367

By:

Mori, Takayasu;
Yousefzadeh, Matthew J.;
Faridounnia, Maryam;
Chong, Jessica X.;
Hisama, Fuki M.;
Hudgins, Louanne;
Mercado, Gabriela;
Wade, Erin A.;
Barghouthy, Amira S.;
Lee, Lin;
Martin, George M.;
Nickerson, Deborah A.;
Bamshad, Michael J.;
University of Washington Center for Mendelian Genomics;
Niedernhofer, Laura J.;
Oshima, Junko

Publication type:

Article

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 7, doi. 10.1002/humu.23128

By:

Yokote, Koutaro;
Chanprasert, Sirisak;
Lee, Lin;
Eirich, Katharina;
Takemoto, Minoru;
Watanabe, Aki;
Koizumi, Naoko;
Lessel, Davor;
Mori, Takayasu;
Hisama, Fuki M.;
Ladd, Paula D.;
Angle, Brad;
Baris, Hagit;
Cefle, Kivanc;
Palanduz, Sukru;
Ozturk, Sukru;
Chateau, Antoinette;
Deguchi, Kentaro;
Easwar, T.K.M;
Federico, Antonio

Publication type:

Article

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Published in:

Human Mutation, 2015, v. 36, n. 11, p. 1070, doi. 10.1002/humu.22833

By:

Lessel, Davor;
Hisama, Fuki M.;
Szakszon, Katalin;
Saha, Bidisha;
Sanjuanelo, Alexander Barrios;
Salbert, Bonnie A.;
Steele, Pamela D.;
Baldwin, Jennifer;
Brown, W. Ted;
Piussan, Charles;
Plauchu, Henri;
Szilvássy, Judit;
Horkay, Edit;
Högel, Josef;
Martin, George M.;
Herr, Alan J.;
Oshima, Junko;
Kubisch, Christian

Publication type:

Article

Human GABA<sub>B</sub> receptor 1 gene: Eight novel sequence variants.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.34

By:

Hisama, Fuki M.;
Gruen, Jeffrey R.;
Choi, Jenny;
Huseinovic, Masha;
Grigorenko, Elena L.;
Pauls, David;
Mattson, Richard H.;
Gelernter, Joel;
Wood, Frank B.;
Goei, Vita L.

Publication type:

Article

Achievement Motivation and the Locus of Control of Children with Learning Disabilities and Behavior Disorders.

Published in:

Journal of Learning Disabilities, 1976, v. 9, n. 6, doi. 10.1177/002221947600900610

By:

Hisama, T.

Publication type:

Article

Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.

Published in:

GeroScience, 2024, v. 46, n. 2, p. 2771, doi. 10.1007/s11357-023-00907-1

By:

Hisama, Fuki M.;
Pillai, Renuka Kandhaya;
Sidorova, Julia;
Patterson, Karynne;
Gokingco, Carolina;
Yacobi-Bach, Michal;
Oshima, Junko

Publication type:

Article

SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome.

Published in:

GeroScience, 2021, v. 43, n. 3, p. 1481, doi. 10.1007/s11357-020-00318-6

By:

Kandhaya-Pillai, Renuka;
Hou, Deyin;
Zhang, Jiaming;
Yang, Xiaomeng;
Compoginis, Goli;
Mori, Takayasu;
Tchkonia, Tamara;
Martin, George M.;
Hisama, Fuki M.;
Kirkland, James L.;
Oshima, Junko

Publication type:

Article

Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.

Published in:

2016

By:

Cohen, Stacey A.;
Laurino, Mercy;
Bowen, Deborah J.;
Upton, Melissa P.;
Pritchard, Colin;
Hisama, Fuki;
Jarvik, Gail;
Fichera, Alessandro;
Sjoding, Britta;
Bennett, Robin L.;
Naylor, Lorraine;
Jacobson, Angela;
Burke, Wylie;
Grady, William M.

Publication type:

journal article

Effect of a Novel Ascorbic Derivative, Disodium Isostearyl 2-O-L-Ascorbyl Phosphate, on Normal Human Dermal Fibroblasts against Reactive Oxygen Species.

Published in:

Bioscience, Biotechnology & Biochemistry, 2008, v. 72, n. 4, p. 1015, doi. 10.1271/bbb.70766

By:

Shibayama, Hiroharu;
Hisama, Masayoshi;
Matsuda, Sanae;
Kawase, Atsushi;
Ohtsuki, Mamitaro;
Hanada, Katsumi;
Iwaki, Masahiro

Publication type:

Article

Antimutagenic Activity of Flavonoids from Chrysanthemum morifolium.

Published in:

Bioscience, Biotechnology & Biochemistry, 2003, v. 67, n. 10, p. 2091, doi. 10.1271/bbb.67.2091

By:

Miyazawa, Mitsuo;
Hisama, Masayoshi

Publication type:

Article

Congenital Intra-abdominal Bilateral Juvenile Granulosa Cell Tumors of the Testis Associated with Constitutional Loss of Material from Chromosome 4.

Published in:

Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 224, doi. 10.2350/09-04-0638-CR.1

By:

YU, DAVID C.;
PATHAK, BHAVANA;
VARGAS, SARA O.;
JAVID, PATRICK J.;
HISAMA, FUKI M.;
WILSON, JAY M.;
LINDEN, BRADLEY C.

Publication type:

Article

Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer.

Published in:

2020

By:

Payne, Thomas H;
Zhao, Lue Ping;
Le, Calvin;
Wilcox, Peter;
Yi, Troy;
Hinshaw, Jesse;
Hussey, Duncan;
Kostrinsky-Thomas, Alex;
Hale, Malika;
Brimm, John;
Hisama, Fuki M

Publication type:

journal article

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.

Published in:

Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0698-7

By:

Gelman, Hannah;
Dines, Jennifer N.;
Berg, Jonathan;
Berger, Alice H.;
Brnich, Sarah;
Hisama, Fuki M.;
James, Richard G.;
Rubin, Alan F.;
Shendure, Jay;
Shirts, Brian;
Fowler, Douglas M.;
Starita, Lea M.

Publication type:

Article

DJ Kuttin Kandi: Performing Feminism.

Published in:

American Music Review, 2014, v. 43, n. 2, p. 30

By:

Hisama, Ellie M.

Publication type:

Article

Feminist Scholarship as a Social Act: Remembering Adrienne Fried Block.

Published in:

American Music Review, 2009, v. 39, n. 1, p. 1

By:

Hisama, Ellie M.

Publication type:

Article

Stimulation of growth ofPorphyromonas gingivalisby cell extracts fromTannerella forsythia.

Published in:

Journal of Periodontal Research, 2005, v. 40, n. 2, p. 105, doi. 10.1111/j.1600-0765.2005.00774.x

By:

Yoneda, Masahiro;
Yoshikane, Toru;
Motooka, Noriko;
Yamada, Kazuhiko;
Hisama, Kazuhiro;
Naito, Toru;
Okada, Ichizo;
Yoshinaga, Masaharu;
Hidaka, Keitaro;
Imaizumi, Koichi;
Maeda, Katsumasa;
Hirofuji, Takao

Publication type:

Article

Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63847

By:

Boyd, Brenna M.;
Fang, He;
Allingham‐Hawkins, Diane;
Fischer, Gregory J.;
Peng, Siwu;
Puryear, Lauren;
Liu, Yajuan J.;
Hisama, Fuki M.

Publication type:

Article

Diversity, inclusion and equity in medical genetics: The time is now.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2817, doi. 10.1002/ajmg.a.61899

By:

Quintero‐Rivera, Fabiola;
Hisama, Fuki M.

Publication type:

Article

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 471, doi. 10.1002/ajmg.a.38053

By:

Purizaca‐Rosillo, Nelson;
Mori, Takayasu;
Benites‐Cóndor, Yamali;
Hisama, Fuki M.;
Martin, George M.;
Oshima, Junko

Publication type:

Article

Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2510, doi. 10.1002/ajmg.a.36664

By:

Lessel, Davor;
Saha, Bidisha;
Hisama, Fuki;
Kaymakamzade, Bahar;
Nurlu, Gulay;
Gursoy‐Özdemir, Yasemin;
Thiele, Holger;
Nürnberg, Peter;
Martin, George M.;
Kubisch, Christian;
Oshima, Junko

Publication type:

Article

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

Published in:

2005

By:

Dib-Hajj SD;
Rush AM;
Cummins TR;
Hisama FM;
Novella S;
Tyrrell L;
Marshall L;
Waxman SG

Publication type:

Journal Article

Gain-of-function mutation in Na<inf>v</inf>1.7 in familial erythromelalgia induces bursting of sensory neurons.

Published in:

Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1847, doi. 10.1093/brain/awh514

By:

S. D. Dib-Hajj;
A. M. Rush;
T. R. Cummins;
F. M. Hisama;
S. Novella;
L. Tyrrell;
L. Marshall;
S. G. Waxman

Publication type:

Article

Copy number variation plays an important role in clinical epilepsy.

Published in:

Annals of Neurology, 2014, v. 75, n. 6, p. 943, doi. 10.1002/ana.24178

By:

Olson, Heather;
Shen, Yiping;
Avallone, Jennifer;
Sheidley, Beth R.;
Pinsky, Rebecca;
Bergin, Ann M.;
Berry, Gerard T.;
Duffy, Frank H.;
Eksioglu, Yaman;
Harris, David J.;
Hisama, Fuki M.;
Ho, Eugenia;
Irons, Mira;
Jacobsen, Christina M.;
James, Philip;
Kothare, Sanjeev;
Khwaja, Omar;
Lipton, Jonathan;
Loddenkemper, Tobias;
Markowitz, Jennifer

Publication type:

Article

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

Published in:

Annals of Neurology, 2014, v. 75, n. 4, p. 542, doi. 10.1002/ana.24119

By:

Chen, Ying‐Zhang;
Friedman, Jennifer R.;
Chen, Dong‐Hui;
Chan, Guy C.‐K.;
Bloss, Cinnamon S.;
Hisama, Fuki M.;
Topol, Sarah E.;
Carson, Andrew R.;
Pham, Phillip H.;
Bonkowski, Emily S.;
Scott, Erick R.;
Lee, Janel K.;
Zhang, Guangfa;
Oliveira, Glenn;
Xu, Jian;
Scott‐Van Zeeland, Ashley A.;
Chen, Qi;
Levy, Samuel;
Topol, Eric J.;
Storm, Daniel

Publication type:

Article

Is it in your genes? (Book).

Published in:

2004

By:

Hisama, Fuki M.

Publication type:

Book Review

Inhibitory Effects of Phytoncide Solution on Melanin Biosynthesis.

Published in:

Bioscience, Biotechnology & Biochemistry, 2010, v. 74, n. 5, p. 918, doi. 10.1271/bbb.90700

By:

Fujimori, Hiroaki;
Hisama, Masayoshi;
Shibaya,a, Hiroharu;
Kawase, Atsushi;
Iwaki, Masahiro

Publication type:

Article

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5

By:

Friedrich, Katrin;
Lee, Lin;
Leistritz, Dru F.;
Nürnberg, Gudrun;
Saha, Bidisha;
Hisama, Fuki M.;
Eyman, Daniel K.;
Lessel, Davor;
Nürnberg, Peter;
Chumei Li;
Garcia-F.-Villalta, María;
Kets, Carolien M.;
Schmidtke, Joerg;
Cruz, Vítor Tedim;
Van der Akker, Peter C.;
Boak, Joseph;
Peter, Dincy;
Compoginis, Goli;
Cefle, Kivanc;
Ozturk, Sukru

Publication type:

Article

Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

Published in:

2021

By:

Martin, George M;
Hisama, Fuki M;
Oshima, Junko

Publication type:

journal article

Getting to Count.

Published in:

Music Theory Spectrum, 2021, v. 43, n. 2, p. 349, doi. 10.1093/mts/mtaa033

By:

Hisama, Ellie M

Publication type:

Article

Understanding Charles Seeger, Pioneer in American Musicology (Book).

Published in:

2002

By:

Hisama, Ellie M.

Publication type:

Book Review

Listening to Listening: A Response to Nina Sun Eidsheim's The Race of Sound.

Published in:

Kalfou, 2022, v. 9, n. 2, p. 280

By:

Hisama, Ellie M.

Publication type:

Article

Adults with lysosomal storage diseases in the undiagnosed diseases network.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2013

By:

Xiao, Changrui;
Koziura, Mary;
Cope, Heidi;
Spillman, Rebecca;
Tan, Khoon;
Hisama, Fuki M.;
Tifft, Cynthia J.;
Toro, Camilo

Publication type:

Article

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1148, doi. 10.1002/mgg3.495

By:

Sargolzaeiaval, Forough;
Zhang, Jiaming;
Schleit, Jennifer;
Lessel, Davor;
Kubisch, Christian;
Precioso, Debora R.;
Sillence, David;
Hisama, Fuki M.;
Dorschner, Michael;
Martin, George M.;
Oshima, Junko

Publication type:

Article

Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65531-x

By:

Sonoyama, Takuhiro;
Stadler, Lukas K. J.;
Zhu, Mingyan;
Keogh, Julia M.;
Henning, Elana;
Hisama, Fuki;
Kirwan, Peter;
Jura, Magdalena;
Blaszczyk, Beata K.;
DeWitt, David C.;
Brouwers, Bas;
Hyvönen, Marko;
Barroso, Inês;
Merkle, Florian T.;
Appleyard, Suzanne M.;
Wayman, Gary A.;
Farooqi, I. Sadaf

Publication type:

Article

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Published in:

2014

By:

Oshima, Junko;
Hisama, Fuki M

Publication type:

journal article

Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome.

Published in:

Gerontology, 2014, v. 60, n. 3, p. 239, doi. 10.1159/000356030

By:

Oshima, Junko;
Hisama, Fuki M.

Publication type:

Article

Clinical utility gene card for: Werner Syndrome - Update 2014.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.171

By:

Hisama, Fuki M;
Kubisch, Christian;
Martin, George M;
Oshima, Junko

Publication type:

Article

Clinical utility gene card for: Werner syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.265

By:

Hisama, Fuki M;
Kubisch, Christian;
Martin, George M;
Oshima, Junko

Publication type:

Article

Letter from the Editor.

Published in:

2008

By:

Hisama, Ellie M.

Publication type:

Editorial

Letter from the Editor.

Published in:

Journal of the Society for American Music, 2007, v. 1, n. 1, p. vii, doi. 10.1017/S1752196307070058

By:

Hisama, Ellie M.

Publication type:

Article

Patterns of Japanese clinical nursing: a historical analysis.

Published in:

2001

By:

Hisama KK

Publication type:

Journal Article

Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 4, p. 1044, doi. 10.1210/clinem/dgae620

By:

Sun, Bang;
Stamou, Maria I;
Stockman, Sara L;
Campbell, Mark B;
Plummer, Lacey;
Salnikov, Kathryn B;
Kotan, Leman Damla;
Topaloglu, A Kemal;
Hisama, Fuki M;
Davis, Erica E;
Seminara, Stephanie B;
Balasubramanian, Ravikumar

Publication type:

Article

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 22, doi. 10.1186/1471-2164-15-1127

By:

Juan Geng;
Picker, Jonathan;
Zhaojing Zheng;
Xiaoqing Zhang;
Jian Wang;
Fuki Hisama;
Brown, David W.;
Mullen, Mary P.;
Harris, David;
Stoler, Joan;
Seman, Ann;
Miller, David T.;
Qihua Fu;
Roberts, Amy E.;
Yiping Shen

Publication type:

Article

Dysfunction of the MDM2/p53 axis is linked to premature aging.

Published in:

2017

By:

Lessel, Davor;
Danyi Wu;
Trujillo, Carlos;
Ramezani, Thomas;
Lessel, Ivana;
Alwasiyah, Mohammad K.;
Saha, Bidisha;
Hisama, Fuki M.;
Rading, Katrin;
Goebel, Ingrid;
Schütz, Petra;
Speit, Günter;
Högel, Josef;
Thiele, Holger;
Nürnberg, Gudrun;
Nürnberg, Peter;
Hammerschmidt, Matthias;
Yan Zhu;
Tong, David R.;
Katz, Chen

Publication type:

journal article

Effect of Water Storage on the Flexural Properties of Three Glass Fiber-Reinforced Composites.

Published in:

International Journal of Prosthodontics, 2005, v. 18, n. 1, p. 28

By:

Chai, John;
Takahashi, Yutaka;
Hisama, Kazuhiro;
Shimizu, Hiroshi

Publication type:

Article

Water Sorption and Dimensional Stability of Three Glass Fiber--Reinforced Composites.

Published in:

International Journal of Prosthodontics, 2004, v. 17, n. 2, p. 195

By:

Chai, John;
Takahashi, Yutaka;
Hisama, Kazuhiro;
Shimizu, Hiroshi

Publication type:

Article

Probability of Failure of Highly Filled Indirect Resin-Veneered Implant-Supported Restorations: An In Vitro Study.

Published in:

International Journal of Prosthodontics, 2002, v. 15, n. 2, p. 179

By:

Takahashi, Yutaka;
Hisama, Kazuhiro;
Sato, Hironobu;
Chai, John;
Shimizu, Hiroshi;
Kido, Hirofumi;
Ukon, Shinichi

Publication type:

Article

Progress in Molecular Genetics of Alzheimer's Disease.

Published in:

Neuroscientist, 1996, v. 2, n. 1, p. 3, doi. 10.1177/107385849600200106

By:

HISAMA, FUKI M.;
SCHELLENBERG, GERARD D.

Publication type:

Article