Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

…, K Bergsteinsdottir, MH Ogmundsdottir… - Nature, 2013 - nature.com
Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide
association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding …

[HTML][HTML] A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway

…, RSQ Kim, K Bergsteinsdottir, MH Ogmundsdottir… - Cell, 2013 - cell.com
Sequence polymorphisms linked to human diseases and phenotypes in genome-wide
association studies often affect noncoding regions. A SNP within an intron of the gene encoding …

Restricted leucine zipper dimerization and specificity of DNA recognition of the melanocyte master regulator MITF

V Pogenberg, MH Ögmundsdóttir… - Genes & …, 2012 - genesdev.cshlp.org
Microphthalmia-associated transcription factor (MITF) is a master regulator of melanocyte
development and an important oncogene in melanoma. MITF heterodimeric assembly with …

Proton-pump inhibitors among adults: a nationwide drug-utilization study

…, HM Ogmundsdottir, H Zoega - Therapeutic …, 2018 - journals.sagepub.com
Background: The use of proton-pump inhibitors (PPIs) has grown worldwide, and there are
concerns about increased unsubstantiated long-term use. The aim of the study was to …

[HTML][HTML] Proton-assisted amino acid transporter PAT1 complexes with Rag GTPases and activates TORC1 on late endosomal and lysosomal membranes

MH Ögmundsdóttir, S Heublein, S Kazi, B Reynolds… - PloS one, 2012 - journals.plos.org
… In light of the recent identification of the vacuolar H + -ATPase as another Rag-interacting
component, we propose a model in which PATs function as part of an AA-sensing engine that …

[HTML][HTML] MITF has a central role in regulating starvation-induced autophagy in melanoma

…, C Bindesboll, M Bessadottir, HM Ogmundsdottir… - Scientific reports, 2019 - nature.com
The MITF transcription factor is a master regulator of melanocyte development and a critical
factor in melanomagenesis. The related transcription factors TFEB and TFE3 regulate …

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

…, K Bergsteinsdóttir, MH Ögmundsdóttir… - Human Molecular …, 2013 - academic.oup.com
The basic-helix–loop–helix-leucine zipper (bHLHZip) protein MITF (microphthalmia-associated
transcription factor) is a master regulator of melanocyte development. Mutations in the …

[HTML][HTML] Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62

SU Greer, J Chen, MH Ogmundsdottir, C Ayala… - Scientific Reports, 2022 - nature.com
Autophagy is a housekeeping mechanism tasked with eliminating misfolded proteins and
damaged organelles to maintain cellular homeostasis. Autophagy deficiency results in …

Amino acid sensing and mTOR regulation: inside or out?

DCI Goberdhan, MH Ögmundsdóttir… - Biochemical Society …, 2009 - portlandpress.com
mTOR (mammalian target of rapamycin) plays a key role in determining how growth factor,
nutrient and oxygen levels modulate intracellular events critical for the viability and growth of …

Duplicated sequence motif in the long terminal repeat of maedi-visna virus extends cell tropism and is associated with neurovirulence

…, S Matthíasdóttir, MH Ogmundsdóttir… - Journal of …, 2007 - Am Soc Microbiol
Maedi-visna virus (MVV) is a lentivirus of sheep causing chronic inflammatory disease of the
lungs (maedi) and the nervous system (visna). We have previously shown that a duplicated …