Møller LB - Search Results

1

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T, Nanhoe S, de Almeida LGD, Schönewolf-Greulich B, Larsen LJ, Hey CAB, Dunø M, Ek J, Risom L, Nellist M, Møller LB. Rosengren T, et al. Among authors: moller lb. Sci Rep. 2020 Jun 18;10(1):9909. doi: 10.1038/s41598-020-66588-4. Sci Rep. 2020. PMID: 32555378 Free PMC article.

2

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: moller lb. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265

3

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

Ostergaard E, Duno M, Møller LB, Kalkanoglu-Sivri HS, Dursun A, Aliefendioglu D, Leth H, Dahl M, Christensen E, Wibrand F. Ostergaard E, et al. Among authors: moller lb. JIMD Rep. 2013;9:1-5. doi: 10.1007/8904_2012_173. Epub 2012 Aug 31. JIMD Rep. 2013. PMID: 23430542 Free PMC article.

4

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.

Møller LB, Schönewolf-Greulich B, Rosengren T, Larsen LJ, Ostergaard JR, Sommerlund M, Ostenfeldt C, Stausbøl-Grøn B, Linnet KM, Gregersen PA, Jensen UB. Møller LB, et al. Mol Genet Metab. 2017 Apr;120(4):384-391. doi: 10.1016/j.ymgme.2017.02.008. Epub 2017 Mar 1. Mol Genet Metab. 2017. PMID: 28336152

5

TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms.

Rosengren T, Larsen LJ, Pedersen LB, Christensen ST, Møller LB. Rosengren T, et al. Among authors: moller lb. Cell Mol Life Sci. 2018 Jul;75(14):2663-2680. doi: 10.1007/s00018-018-2761-8. Epub 2018 Feb 2. Cell Mol Life Sci. 2018. PMID: 29396625 Free PMC article.

6

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.

Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB. Hey CAB, et al. Among authors: moller lb. Stem Cell Res. 2018 Aug;31:235-239. doi: 10.1016/j.scr.2018.08.005. Epub 2018 Aug 10. Stem Cell Res. 2018. PMID: 30142598 Free article.

7

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.

Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB. Hey CAB, et al. Among authors: moller lb. Stem Cell Res. 2018 Dec;33:46-50. doi: 10.1016/j.scr.2018.09.013. Epub 2018 Sep 20. Stem Cell Res. 2018. PMID: 30312873 Free article.

8

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Among authors: moller lb. Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2. Sci Rep. 2019. PMID: 30718709 Free PMC article.

9

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

Hey CAB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB. Hey CAB, et al. Among authors: moller lb. Stem Cell Res. 2019 Dec;41:101594. doi: 10.1016/j.scr.2019.101594. Epub 2019 Nov 4. Stem Cell Res. 2019. PMID: 31760295 Free article.

10

Crosstalk of Hedgehog and mTORC1 Pathways.

Larsen LJ, Møller LB. Larsen LJ, et al. Among authors: moller lb. Cells. 2020 Oct 18;9(10):2316. doi: 10.3390/cells9102316. Cells. 2020. PMID: 33081032 Free PMC article. Review.

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