Ø. Holla

发表

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.

Sigve Nakken, Morten Mattingsdal, S. Nakken, 2009, Molecular genetics and metabolism.

Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.

J. Hjelmesæth, A. Fell, J. Hertel, 2017, Molecular genetics and metabolism.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Genome‐wide expression analysis of cells expressing gain of function mutant D374Y‐PCSK9

Morten Mattingsdal, Jessica M. Lindvall, M. Mattingsdal, 2008, Journal of cellular physiology.

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

M. Russell, L. Strand, G. Braathen, 2014, BioMed research international.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

J. Hoenicka, J. Baptista, A. Fry, 2021, American journal of medical genetics. Part A.

Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.

K. Berge, T. Leren, Christél Teie, 2005, Clinica chimica acta; international journal of clinical chemistry.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Clinical exome sequencing – Norwegian findings.

L. Strand, G. Braathen, H. Høyer, 2015, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly

T. Ranheim, K. Berge, T. Leren, 2007, BMC Cell Biology.

A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT

B. Fevang, A. Stray-Pedersen, E. Galteland, 2021, Journal of Clinical Immunology.

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction

B. Isfoss, Ø. Busk, Ø. Holla, 2014, Endoscopy.

Nonsense‐mediated decay of human LDL receptor mRNA

T. Ranheim, M. Kulseth, K. Berge, 2009, Scandinavian journal of clinical and laboratory investigation.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

N. Guex, N. Brown, W. Chung, 2019, bioRxiv.

A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9.

K. Berge, T. Leren, Thea Bismo Strøm, 2010, Molecular genetics and metabolism.

Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation

K. Haugaa, C. Gibbs, J. Hysing, 2018, Journal of the American Heart Association.

Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study

T. Holmøy, O. Tysnes, T. Rekand, 2022, Neuroepidemiology.

Hereditary peripheral neuropathies diagnosed by next-generation sequencing.

M. Russell, L. Strand, G. Braathen, 2015, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.

T. Ranheim, M. Kulseth, K. Berge, 2006, Human molecular genetics.

Moderately Prolonged QTc in Computer-Assessed ECG, Random Variation or Significant Risk Factor? A Literature Review

K. Haugaa, C. Gibbs, J. Hysing, 2022, Cardiogenetics.

Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors[S]

J. K. Laerdahl, K. Berge, T. Leren, 2011, Journal of Lipid Research.

Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor.

J. K. Laerdahl, K. Berge, T. Leren, 2011, Biochemical and biophysical research communications.

Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain.

K. Berge, T. Leren, Thea Bismo Strøm, 2010, Molecular genetics and metabolism.

Characterization of novel mutations in the catalytic domain of the PCSK9 gene

J. K. Laerdahl, T. Ranheim, M. Kulseth, 2008, Journal of internal medicine.

Low‐density lipoprotein receptor activity in Epstein‐Barr virus‐transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene

T. Ranheim, M. Kulseth, K. Berge, 2006, Scandinavian journal of clinical and laboratory investigation.

Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum.

K. Berge, T. Leren, Thea Bismo Strøm, 2011, Biochemical and biophysical research communications.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Maximilian E. R. Weiss, K. Kandaswamy, K. Lohmann, 2019, American journal of human genetics.

Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.

M. Kulseth, K. Berge, T. Leren, 2009, Clinica chimica acta; international journal of clinical chemistry.

Influence of asthma and obesity on respiratory symptoms, work ability and lung function: findings from a cross-sectional Norwegian population study

J. Kongerud, P. Henneberger, A. Fell, 2021, BMJ Open Respiratory Research.

Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification.

J. K. Laerdahl, K. Berge, T. Leren, 2012, Human molecular genetics.

The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.

K. Berge, T. Leren, Thea Bismo Strøm, 2011, Biochemical and biophysical research communications.

Characterization of a naturally occurring degradation product of the LDL receptor.

K. Berge, T. Leren, Thea Bismo Strøm, 2012, Molecular genetics and metabolism.

Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.

Trond P. Leren, Jon K. Laerdahl, J. K. Laerdahl, 2009, Atherosclerosis.

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

M. Vikkula, T. Prescott, L. Boon, 2021, Journal of Medical Genetics.

Influence of Obesity on Work Ability, Respiratory Symptoms, and Lung Function in Adults with Asthma

J. Kongerud, P. Henneberger, A. Fell, 2019, Respiration.

A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT

B. Fevang, A. Stray-Pedersen, E. Galteland, 2021, Journal of clinical immunology.

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

S. Rudnik-Schöneborn, W. Löscher, P. Andersen, 2022, Journal of Medical Genetics.

Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes.

K. Berge, T. Leren, Thea Bismo Strøm, 2010, Clinica chimica acta; international journal of clinical chemistry.

Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion

J. K. Laerdahl, T. Ranheim, M. Kulseth, 2008, The FEBS journal.

QT prolongation predicts short-term mortality independent of comorbidity

D. Kristoffersen, K. Haugaa, M. Svendsen, 2019, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Predictors of mortality in high-risk patients with QT prolongation in a community hospital.

K. Haugaa, C. Gibbs, J. Hysing, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly

T. Ranheim, K. Berge, T. Leren, 2007 .

Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly

T. Ranheim, K. Berge, T. Leren, 2007 .

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

V. Narayanan, A. Afenjar, S. Skinner, 2023, medRxiv.

4‐Phenylbutyrate restores the functionality of a misfolded mutant low‐density lipoprotein receptor

T. Ranheim, M. Kulseth, K. Berge, 2007, The FEBS journal.

Predictors of mortality in high-risk patients with QT prolongation in a community hospital.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

V. Narayanan, A. Afenjar, T. Chou, 2023, American journal of human genetics.

Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders

K. Tveten, Cathrine Goberg Olsen, Ø. Busk, 2023, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis

K. Alstadhaug, M. Kampman, U. Ljøstad, 2024, Brain communications.