Yoichi Matsubara

Yoichi Matsubara

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Yoichi Matsubara

Publications by authors named "Yoichi Matsubara"

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Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.

J Invest Dermatol 2019 Dec 15;139(12):2458-2466.e9. Epub 2019 Jun 15.

Department of Dermatology, Keio University School of Medicine, Tokyo, Japan; Keio-Maruho Laboratory of Skin Barriology, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.jid.2019.05.020DOI Listing
December 2019

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.

J Hum Genet 2019 Oct 16;64(10):1005-1014. Epub 2019 Jul 16.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0641-1DOI Listing
October 2019

KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes.

Pediatr Diabetes 2019 09 3;20(6):712-719. Epub 2019 Jun 3.

Department of Pediatrics, Osaka City University School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1111/pedi.12868DOI Listing
September 2019

Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.

BMC Med Genomics 2019 05 28;12(1):77. Epub 2019 May 28.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.

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http://dx.doi.org/10.1186/s12920-019-0526-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540402PMC
May 2019

Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity.

Endocr J 2019 Apr 19;66(4):387-393. Epub 2019 Feb 19.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.

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http://dx.doi.org/10.1507/endocrj.EJ18-0494DOI Listing
April 2019

11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome.

Endocr J 2018 Oct 14;65(10):979-990. Epub 2018 Jul 14.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.

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https://www.jstage.jst.go.jp/article/endocrj/65/10/65_EJ18-0
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http://dx.doi.org/10.1507/endocrj.EJ18-0212DOI Listing
October 2018

An unclassified variant of activates a cryptic splice site in a patient with CHARGE syndrome.

Hum Genome Var 2018 8;5:18006. Epub 2018 Mar 8.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2018.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842149PMC
March 2018

Efficacy and safety of two doses of Norditropin (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

Endocr J 2018 Feb 7;65(2):159-174. Epub 2017 Nov 7.

Thyroid and Endocrine Center, Fukushima Global Medical Science Center, Fukushima Medical University, Fukushima 960-1295, Japan.

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http://dx.doi.org/10.1507/endocrj.EJ17-0313DOI Listing
February 2018

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.

Sex Dev 2016 21;10(4):205-209. Epub 2016 Sep 21.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1159/000448726DOI Listing
November 2017

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

Endocr J 2017 Aug 28;64(8):813-817. Epub 2017 Jul 28.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.

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http://dx.doi.org/10.1507/endocrj.EJ17-0078DOI Listing
August 2017

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis.

J Dermatol 2017 Jun 11;44(6):e109-e110. Epub 2017 Mar 11.

Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1111/1346-8138.13801DOI Listing
June 2017

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

Hum Mutat 2017 01 21;38(1):39-42. Epub 2016 Sep 21.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1002/humu.23116DOI Listing
January 2017

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

J Clin Endocrinol Metab 2016 07 2;101(7):2623-7. Epub 2016 Jun 2.

Departments of Molecular Endocrinology (A.N., K.M., S.S., M.K., M.F.) and Systems BioMedicine (K.O.) and Institute (Y.M.), National Research Institute for Child Health and Development, Tokyo 157-8535, Japan; Division of Endocrinology and Metabolism (R.H.), National Medical Center for Children and Mothers, Tokyo 157-8535, Japan; Department of Internal Medicine (E.H., Y.N.), Japanese Red Cross Kanazawa Hospital, Kanazawa 921-8162, Japan; Division of Pediatrics, Department of Homeostatic Regulation and Development (K.N.), Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan; Department of Reproductive Biology (A.U.), Center for Regenerative Medicine, National Institute for Child Health and Development, Tokyo 157-8535, Japan; Department of Pediatrics (T.T.), Jichi Children's Medical Center Tochigi, Shimotsuke 329-0498, Japan; and Department of Pediatrics (T.O.), Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.

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http://dx.doi.org/10.1210/jc.2016-1725DOI Listing
July 2016

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.

Horm Res Paediatr 2015 29;84(3):212-6. Epub 2015 Jul 29.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1159/000436965DOI Listing
June 2016

Recent advances in RASopathies.

J Hum Genet 2016 Jan 8;61(1):33-9. Epub 2015 Oct 8.

National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2015.114DOI Listing
January 2016

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Pediatr Int 2015 Dec 2;57(6):1189-92. Epub 2015 Dec 2.

Department of Pediatrics, Tohoku University School of Medicine, Sendai.

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http://dx.doi.org/10.1111/ped.12713DOI Listing
December 2015

Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

Am J Physiol Gastrointest Liver Physiol 2015 Oct 27;309(8):G688-94. Epub 2015 Aug 27.

Pediatric Nutritional Medicine, Klinikum rechts der Isar; Else Kröner-Fresenius-Zentrum für Ernährungsmedizin & Zentralinstitut für Ernährungs-und Lebensmittelforschung, Technische Universität München, Munich, Germany; and.

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http://dx.doi.org/10.1152/ajpgi.00241.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609930PMC
October 2015

Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermia.

Cytogenet Genome Res 2014 6;144(4):285-9. Epub 2015 Mar 6.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1159/000377649DOI Listing
June 2015

Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.

Dig Dis Sci 2015 May 10;60(5):1297-307. Epub 2014 Dec 10.

Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.

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http://dx.doi.org/10.1007/s10620-014-3476-9DOI Listing
May 2015

Mutations in PIGL in a patient with Mabry syndrome.

Am J Med Genet A 2015 Apr 23;167A(4):777-85. Epub 2015 Feb 23.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36987DOI Listing
April 2015

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Am J Med Genet A 2015 Feb 25;167A(2):407-11. Epub 2014 Nov 25.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36842DOI Listing
February 2015

Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).

JIMD Rep 2014 6;16:57-64. Epub 2014 Jul 6.

Clinic of Gastroenterology and Hepatology, University Hospital "Saint Ivan Rislki", Sofia, Bulgaria,

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http://dx.doi.org/10.1007/8904_2014_320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221299PMC
November 2014

A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.

Am J Med Genet A 2013 Oct 15;161A(10):2600-3. Epub 2013 Aug 15.

Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36107DOI Listing
October 2013

Ras/MAPK syndromes and childhood hemato-oncological diseases.

Int J Hematol 2013 Jan 19;97(1):30-6. Epub 2012 Dec 19.

Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai, Japan.

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http://dx.doi.org/10.1007/s12185-012-1239-yDOI Listing
January 2013

Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy.

Neurology 2012 Aug;79(7):e63-8

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1212/WNL.0b013e3182648bb6DOI Listing
August 2012

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

Mol Genet Metab 2012 Apr 8;105(4):553-8. Epub 2012 Jan 8.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.024DOI Listing
April 2012

Novel single nucleotide polymorphism of the CYP2A13 gene in Japanese individuals.

Drug Metab Pharmacokinet 2011 24;26(5):544-7. Epub 2011 May 24.

Laboratory of Pharmacotherapy of Life-Style Related Diseases, Graduate School of Pharmaceutical Sciences, Tohoku University, Sendai, Japan.

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http://dx.doi.org/10.2133/dmpk.dmpk-11-sc-033DOI Listing
March 2012

Association between cancer risk and drug-metabolizing enzyme gene (CYP2A6, CYP2A13, CYP4B1, SULT1A1, GSTM1, and GSTT1) polymorphisms in cases of lung cancer in Japan.

Drug Metab Pharmacokinet 2011 26;26(5):516-22. Epub 2011 Jul 26.

Laboratory of Pharmacotherapy of Life-Style Related Diseases, Graduate School of Pharmaceutical Sciences, Tohoku University, Sendai, Japan.

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http://dx.doi.org/10.2133/dmpk.dmpk-11-rg-046DOI Listing
March 2012

Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.

Seizure 2012 Jan 25;21(1):55-60. Epub 2011 Aug 25.

Department of Pediatrics, Kakogawa Hospital Organization, Kakogawa West-City Hospital, 384-1 Hiratsu, Yoneda-cho, Kakogawa, Hyogo 675-8611, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311110020
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http://dx.doi.org/10.1016/j.seizure.2011.07.013DOI Listing
January 2012

Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.

J Pediatr Hematol Oncol 2011 Dec;33(8):e342-6

Department of Pediatrics, Saitama Medical University, Moroyama, Saitama, Japan.

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http://dx.doi.org/10.1097/MPH.0b013e3181df5e5bDOI Listing
December 2011

Functional characterization of CYP2B6 allelic variants in demethylation of antimalarial artemether.

Drug Metab Dispos 2011 Oct 11;39(10):1860-5. Epub 2011 Jul 11.

Laboratory of Pharmacotherapy of Life-Style Related Diseases, Graduate School of Pharmaceutical Sciences, Tohoku University, Sendai, Japan.

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http://dx.doi.org/10.1124/dmd.111.040352DOI Listing
October 2011

A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder.

Brain Dev 2011 Aug 18;33(7):576-9. Epub 2010 Nov 18.

Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Japan.

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http://dx.doi.org/10.1016/j.braindev.2010.10.006DOI Listing
August 2011

Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.

Brain Dev 2011 Feb 14;33(2):166-9. Epub 2010 Apr 14.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S038776041000070
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http://dx.doi.org/10.1016/j.braindev.2010.03.008DOI Listing
February 2011

[Inborn errors of metabolism].

Authors:
Yoichi Matsubara

Nihon Rinsho 2010 Aug;68 Suppl 8:434-7

Department of Medical Genetics, Tohoku University School of Medicine.

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August 2010

[Clinical significance of genetic testing].

Authors:
Yoichi Matsubara

Nihon Rinsho 2010 Aug;68 Suppl 8:165-9

Department of Medical Genetics, Tohoku University School of Medicine.

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August 2010

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
Publisher Site
http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Hum Mutat 2008 Aug;29(8):992-1006

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1002/humu.20748DOI Listing
August 2008

Association of the GABRB3 gene with nonsyndromic oral clefts.

Cleft Palate Craniofac J 2008 May;45(3):261-6

Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan.

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http://dx.doi.org/10.1597/06-142DOI Listing
May 2008

[Human development and the RAS/MAPK pathway].

Seikagaku 2007 Jan;79(1):34-8

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

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January 2007