Kitanaka S - Search Results

1

Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.

Kitanaka S, Miki Y, Hayashi Y, Igarashi T. Kitanaka S, et al. J Clin Endocrinol Metab. 2004 Mar;89(3):1369-78. doi: 10.1210/jc.2003-031308. J Clin Endocrinol Metab. 2004. PMID: 15001636

2

Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha and the abnormality of HNF-1beta mutants.

Kitanaka S, Sato U, Igarashi T. Kitanaka S, et al. J Endocrinol. 2007 Jan;192(1):141-7. doi: 10.1677/joe.1.07003. J Endocrinol. 2007. PMID: 17210751

3

Functional characterization of LMX1B mutations associated with nail-patella syndrome.

Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T. Sato U, et al. Among authors: kitanaka s. Pediatr Res. 2005 Jun;57(6):783-8. doi: 10.1203/01.PDR.0000157674.63621.2C. Epub 2005 Mar 17. Pediatr Res. 2005. PMID: 15774843

4

A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.

Kitanaka S, Sato U, Maruyama K, Igarashi T. Kitanaka S, et al. Pediatr Nephrol. 2006 Feb;21(2):190-3. doi: 10.1007/s00467-005-2091-6. Epub 2005 Dec 3. Pediatr Nephrol. 2006. PMID: 16328537

5

A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

Kitanaka S, Takeda A, Sato U, Miki Y, Hishinuma A, Ieiri T, Igarashi T. Kitanaka S, et al. J Hum Genet. 2006;51(4):379-382. doi: 10.1007/s10038-006-0360-2. Epub 2006 Feb 14. J Hum Genet. 2006. PMID: 16477365

6

LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.

Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S. Isojima T, et al. Among authors: kitanaka s. Nephrol Dial Transplant. 2014 Jan;29(1):81-8. doi: 10.1093/ndt/gft359. Epub 2013 Sep 15. Nephrol Dial Transplant. 2014. PMID: 24042019

7

Growth hormone deficiency: a possible complication of glucose transporter 1 deficiency?

Nakagama Y, Isojima T, Mizuno Y, Takahashi N, Kitanaka S, Igarashi T. Nakagama Y, et al. Among authors: kitanaka s. Acta Paediatr. 2012 Jun;101(6):e259-62. doi: 10.1111/j.1651-2227.2012.02606.x. Epub 2012 Feb 11. Acta Paediatr. 2012. PMID: 22251140

8

Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children.

Kitanaka S, Isojima T, Takaki M, Numakura C, Hayasaka K, Igarashi T. Kitanaka S, et al. Endocr J. 2012;59(11):1007-14. doi: 10.1507/endocrj.ej12-0143. Epub 2012 Jul 8. Endocr J. 2012. PMID: 22785457 Free article.

9

Endothelin regulates neural crest deployment and fate to form great vessels through Dlx5/Dlx6-independent mechanisms.

Kim KS, Arima Y, Kitazawa T, Nishiyama K, Asai R, Uchijima Y, Sato T, Levi G, Kitanaka S, Igarashi T, Kurihara Y, Kurihara H. Kim KS, et al. Among authors: kitanaka s. Mech Dev. 2013 Nov-Dec;130(11-12):553-66. doi: 10.1016/j.mod.2013.07.005. Epub 2013 Aug 8. Mech Dev. 2013. PMID: 23933587 Free article.

10

Role of HNF-1α and HNF-1β on insulin, IGF-1 and other potential target genes.

Kitanaka S. Kitanaka S. Expert Rev Endocrinol Metab. 2008 Jul;3(4):441-452. doi: 10.1586/17446651.3.4.441. Expert Rev Endocrinol Metab. 2008. PMID: 30290432

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