Kornak U - Search Results

1

CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.

Stauber T, Wartosch L, Vishnolia S, Schulz A, Kornak U. Stauber T, et al. Among authors: kornak u. Bone. 2023 Mar;168:116639. doi: 10.1016/j.bone.2022.116639. Epub 2022 Dec 10. Bone. 2023. PMID: 36513280

2

Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone.

Smith AN, Jouret F, Bord S, Borthwick KJ, Al-Lamki RS, Wagner CA, Ireland DC, Cormier-Daire V, Frattini A, Villa A, Kornak U, Devuyst O, Karet FE. Smith AN, et al. Among authors: kornak u. J Am Soc Nephrol. 2005 May;16(5):1245-56. doi: 10.1681/ASN.2004090761. Epub 2005 Mar 30. J Am Soc Nephrol. 2005. PMID: 15800125 Free article.

3

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.

Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. Guillard M, et al. Among authors: kornak u. Biochim Biophys Acta. 2009 Sep;1792(9):903-14. doi: 10.1016/j.bbadis.2008.12.009. Epub 2009 Jan 8. Biochim Biophys Acta. 2009. PMID: 19171192 Free article. Review.

4

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

Kunte H, Trendelenburg G, Matzen J, Ventz M, Kornak U, Harms L. Kunte H, et al. Among authors: kornak u. Neuro Endocrinol Lett. 2010;31(3):301-3. Neuro Endocrinol Lett. 2010. PMID: 20588230

5

[Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome].

Tantcheva-Poor I, Schuster A, Kornak U, Chelius K, Mauch C. Tantcheva-Poor I, et al. Among authors: kornak u. Klin Padiatr. 2012 Sep;224(5):322-3. doi: 10.1055/s-0032-1312677. Epub 2012 Jul 20. Klin Padiatr. 2012. PMID: 22821296 German. No abstract available.

6

Genetic disorders of the skeleton: a developmental approach.

Kornak U, Mundlos S. Kornak U, et al. Am J Hum Genet. 2003 Sep;73(3):447-74. doi: 10.1086/377110. Epub 2003 Jul 31. Am J Hum Genet. 2003. PMID: 12900795 Free PMC article. Review.

7

Porin proteins in mitochondria from rat pancreatic islet cells and white adipocytes: identification and regulation of hexokinase binding by the sulfonylurea glimepiride.

Müller G, Korndörfer A, Kornak U, Malaisse WJ. Müller G, et al. Among authors: kornak u. Arch Biochem Biophys. 1994 Jan;308(1):8-23. doi: 10.1006/abbi.1994.1002. Arch Biochem Biophys. 1994. PMID: 8311478

8

Bone remodeling: facts and perspectives.

Marie P, Kornak U, Teti A. Marie P, et al. Among authors: kornak u. Arch Biochem Biophys. 2008 May 15;473(2):97. doi: 10.1016/j.abb.2008.04.002. Arch Biochem Biophys. 2008. PMID: 18455550 No abstract available.

9

The antimicrobial peptide, LL-37, inhibits in vitro osteoclastogenesis.

Supanchart C, Thawanaphong S, Makeudom A, Bolscher JG, Nazmi K, Kornak U, Krisanaprakornkit S. Supanchart C, et al. Among authors: kornak u. J Dent Res. 2012 Nov;91(11):1071-7. doi: 10.1177/0022034512460402. Epub 2012 Sep 13. J Dent Res. 2012. PMID: 22983411

10

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP. Skidmore DL, et al. Among authors: kornak u. Am J Med Genet A. 2011 Aug;155A(8):1848-56. doi: 10.1002/ajmg.a.34057. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739576

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