Literature DB >> 15693879

Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.

Keiko Shibayama1, Yoshihide Ohyama, Akira Hishinuma, Yukifumi Yokota, Koji Kazahari, Mayumi Kazahari, Tamio Ieiri, Nobuo Matsuura.   

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Year:  2005        PMID： 15693879     DOI： 10.1111/j.1442-200x.2005.02020.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  8 in total

Review 1.  The molecular causes of thyroid dysgenesis: a systematic review.

Authors:  I C Nettore; V Cacace; C De Fusco; A Colao; P E Macchia
Journal:  J Endocrinol Invest       Date:  2013-05-22       Impact factor: 4.256

Review 2.  Resistance to thyrotropin.

Authors:  Helmut Grasberger; Samuel Refetoff
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2017-03-30       Impact factor: 4.690

3.  Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.

Authors:  Tetsuya Mizokami; Shuji Fukata; Takahiko Kogai; Akira Hishinuma; Katsuhiko Hamada; Tetsushi Maruta; Kiichiro Higashi; Junichi Tajiri
Journal:  Intern Med       Date:  2019-06-07       Impact factor: 1.271

4.  Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.

Authors:  Dong-Zhu Da; Ye Wang; Min Wang; Zhi Long; Qian Wang; Jun Liu
Journal:  Inquiry       Date:  2021 Jan-Dec       Impact factor: 1.730

Review 5.  Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.

Authors:  Alessandra Cassio; Annalisa Nicoletti; Angela Rizzello; Emanuela Zazzetta; Milva Bal; Lilia Baldazzi
Journal:  J Clin Res Pediatr Endocrinol       Date:  2012-11-15

6.  Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.

Authors:  Keisuke Kanda; Haruo Mizuno; Yukari Sugiyama; Hiroki Imamine; Hajime Togari; Kazumichi Onigata
Journal:  Endocrine       Date:  2006-12       Impact factor: 3.925

7.  Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.

Authors:  Katsuhiko Tsunekawa; Yoshimaro Yanagawa; Tomoyuki Aoki; Tadashi Morimura; Osamu Araki; Takao Kimura; Takayuki Ogiwara; Nobuo Kotajima; Masumi Yanagawa; Masami Murakami
Journal:  Biomed Res Int       Date:  2014-05-05       Impact factor: 3.411

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

Authors:  Chiho Sugisawa; Kiyomi Abe; Yuka Sunaga; Matsuo Taniyama; Tomonobu Hasegawa; Satoshi Narumi
Journal:  Clin Pediatr Endocrinol       Date:  2018-07-31
  8 in total

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