BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

by Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Published 2021-01-01

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

by Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Published 2019-12-01

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

by Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Published 2018-12-01

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

by Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Published 2018-08-01

Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

by Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, Helene Gry Gellert-Kristensen, Mingyan Fang, Hanne Jensen, Thomas Rosenberg, Zeynep Tümer, Lisbeth Birk Møller, Karen Brøndum-Nielsen, Karen Grønskov
Published 2020-12-01

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

by Kirsten K. Ahring, Allan M. Lund, Erik Jensen, Thomas G. Jensen, Karen Brøndum-Nielsen, Michael Pedersen, Allan Bardow, Jens Juul Holst, Jens F. Rehfeld, Lisbeth B. Møller
Published 2018-01-01