Sugisawa C - Search Results

1

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.

Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. Sugisawa C, et al. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6229-6237. doi: 10.1210/jc.2019-00657. J Clin Endocrinol Metab. 2019. PMID: 31504637

2

Homozygous DUOXA2 mutation (p.Tyr138^*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature.

Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S. Sugisawa C, et al. Endocr J. 2017 Aug 30;64(8):807-812. doi: 10.1507/endocrj.EJ16-0564. Epub 2017 Jul 16. Endocr J. 2017. PMID: 28626131 Free article. Review.

3

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.

Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T. Narumi S, et al. Among authors: sugisawa c. Endocr J. 2017 Nov 29;64(11):1087-1097. doi: 10.1507/endocrj.EJ17-0194. Epub 2017 Sep 1. Endocr J. 2017. PMID: 28867693 Free article.

4

Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors.

Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S. Sugisawa C, et al. Clin Pediatr Endocrinol. 2018;27(3):123-130. doi: 10.1297/cpe.27.123. Epub 2018 Jul 31. Clin Pediatr Endocrinol. 2018. PMID: 30083029 Free PMC article.

5

Association of ghrelin dynamics with beta cell function in Japanese subjects with normal glucose tolerance.

Murai N, Saito N, Kodama E, Iida T, Mikura K, Imai H, Kaji M, Hashizume M, Kigawa Y, Koizumi G, Tadokoro R, Sugisawa C, Endo K, Iizaka T, Saiki R, Otsuka F, Shun I, Nagasaka S. Murai N, et al. Among authors: sugisawa c. Clin Endocrinol (Oxf). 2019 Nov;91(5):616-623. doi: 10.1111/cen.14073. Epub 2019 Sep 11. Clin Endocrinol (Oxf). 2019. PMID: 31408197

6

Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron.

Sugisawa C, Ono M, Kashimada K, Hasegawa T, Narumi S. Sugisawa C, et al. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e265-e272. doi: 10.1210/clinem/dgaa772. J Clin Endocrinol Metab. 2021. PMID: 33108452

7

Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

Sugisawa C, Taniyama M, Sato T, Takahashi Y, Hasegawa T, Narumi S. Sugisawa C, et al. Endocr J. 2022 Jul 28;69(7):831-838. doi: 10.1507/endocrj.EJ21-0779. Epub 2022 Mar 2. Endocr J. 2022. PMID: 35236788 Free article. Review.

8

GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.

Narumi S, Opitz R, Nagasaki K, Muroya K, Asakura Y, Adachi M, Abe K, Sugisawa C, Kühnen P, Ishii T, Nöthen MM, Krude H, Hasegawa T. Narumi S, et al. Among authors: sugisawa c. Hum Mol Genet. 2022 Nov 28;31(23):3967-3974. doi: 10.1093/hmg/ddac093. Hum Mol Genet. 2022. PMID: 35535691 Free PMC article.

9

Adult Thyroid Outcomes of Congenital Hypothyroidism.

Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K. Sugisawa C, et al. Thyroid. 2023 May;33(5):556-565. doi: 10.1089/thy.2022.0481. Epub 2023 Apr 21. Thyroid. 2023. PMID: 36792927

10

Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, Abe K, Muroya K, Yamamoto Y, Kawada Y, Mushimoto Y, Ohkubo K, Kinjo S, Shimura K, Aoyama K, Mizuno H, Hotsubo T, Takahashi C, Isojima T, Kina Y, Takakuwa S, Hamada J, Sawaki M, Shigehara K, Sugimoto S, Etani Y, Narumi-Wakayama H, Mine Y, Hasegawa T, Hishinuma A, Narumi S. Tanase-Nakao K, et al. Among authors: sugisawa c. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2358-2365. doi: 10.1210/clinem/dgae098. J Clin Endocrinol Metab. 2024. PMID: 38373250

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