Niklas Dahl Selected Research

Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma

4/2010

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

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Niklas Dahl Research Topics

Disease

12	Diamond-Blackfan Anemia (Anemia, Diamond Blackfan) 12/2020 - 10/2002
2	Neurodevelopmental Disorders 11/2023 - 01/2022
2	Microcephaly 11/2023 - 01/2019
2	Seizures (Absence Seizure) 11/2023 - 12/2019
2	Mowat-Wilson syndrome 01/2022 - 01/2019
2	Down Syndrome (Down's Syndrome) 01/2020 - 10/2019
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 12/2019 - 01/2019
2	Ataxia (Dyssynergia) 01/2019 - 09/2015
2	Hypohidrosis 07/2017 - 01/2003
2	Anodontia (Hypodontia) 11/2016 - 12/2009
2	Hypotrichosis 07/2012 - 01/2012
2	Ichthyosis (Xeroderma) 03/2012 - 01/2003
2	Lamellar Ichthyosis (Harlequin Ichthyosis) 03/2012 - 01/2012
2	Ichthyosis prematurity syndrome 03/2011 - 08/2009
2	Primary Ovarian Insufficiency 06/2010 - 12/2008
1	Optic Atrophy 10/2023
1	Cerebellar Ataxia (Dysmetria) 10/2023
1	Deafness (Deaf Mutism) 10/2023
1	Dementia (Dementias) 10/2023
1	Psychotic Disorders (Schizoaffective Disorder) 10/2023
1	Orthostatic Hypotension (Postural Hypotension) 01/2023
1	Heart Diseases (Heart Disease) 10/2022
1	Fibromyalgia (Fibrositis) 01/2022
1	Epilepsy (Aura) 01/2022
1	Inflammation (Inflammations) 01/2022
1	Ring Chromosomes (Ring Chromosome) 01/2021
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2021
1	Hereditary Spastic Paraplegia 10/2020
1	Polymicrogyria 10/2020
1	Chorea (Rheumatic Chorea) 06/2020
1	Dystonia (Limb Dystonia) 06/2020
1	Movement Disorders (Movement Disorder) 12/2019
1	Drug Resistant Epilepsy 12/2019
1	Cognitive Dysfunction 12/2019
1	Epileptic Syndromes 01/2019
1	Huntington Disease (Huntington's Disease) 01/2018
1	Atrophy 12/2017
1	Renal Insufficiency (Renal Failure) 07/2017
1	Secondary Hyperparathyroidism 07/2017
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 05/2015
1	Autosomal Dominant 10 Deafness 05/2015
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 03/2015
1	type 1 Pena Shokeir syndrome 03/2015
1	Demyelinating Diseases (Demyelinating Disease) 08/2013
1	Schmid-Fraccaro syndrome 05/2012
1	Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) 03/2012
1	Exfoliative Dermatitis (Erythroderma) 03/2012
1	Keratosis 01/2012
1	Chronic Obstructive Pulmonary Disease (COPD) 10/2011
1	Polycystic Ovary Syndrome (Syndrome, Stein-Leventhal) 06/2010
1	Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 04/2010
1	Familial Osteochondritis Dissecans 02/2010
1	Autism Spectrum Disorder 01/2010
1	Bone Marrow Failure Disorders 01/2010
1	Gliosis 10/2009
1	Retinoblastoma (Glioblastoma, Retinal) 10/2009

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 11/2023 - 03/2006
9	ribosomal protein S19IBA 03/2011 - 10/2002
3	Nonsense Codon (Nonsense Mutation)IBA 01/2012 - 12/2009
3	5' Untranslated Regions (5' UTR)IBA 01/2012 - 04/2010
2	DNA (Deoxyribonucleic Acid)IBA 11/2023 - 10/2022
2	Zinc Finger E-box Binding Homeobox 2IBA 01/2022 - 01/2019
2	Ribosomal Proteins (Ribosomal Protein)IBA 12/2020 - 10/2002
2	Transcription Factors (Transcription Factor)IBA 01/2020 - 07/2009
2	Protein Isoforms (Isoforms)IBA 01/2019 - 08/2005
2	Lamin Type B (Lamin B)IBA 09/2015 - 08/2013
2	NucleotidesIBA 01/2012 - 04/2010
2	Progesterone Receptors (Progesterone Receptor)IBA 06/2010 - 12/2008
1	Polynucleotide 5'-Hydroxyl-Kinase (Kinase, Polynucleotide)IBA 11/2023
1	Proto-Oncogene Proteins c-sis (Platelet Derived Growth Factor B)IBA 10/2023
1	CatecholaminesIBA 01/2023
1	Phenylephrine (Neo-Synephrine)FDA LinkGeneric 01/2023
1	InterferonsIBA 01/2022
1	Retroelements (Retrotransposon)IBA 01/2021
1	RNA (Ribonucleic Acid)IBA 01/2021
1	Adaptor Protein Complex 4IBA 10/2020
1	IronIBA 10/2020
1	Sodium Channels (Sodium Channel)IBA 12/2019
1	ProteomeIBA 10/2019
1	Voltage-Gated Sodium ChannelsIBA 01/2019
1	Adenosine Monophosphate (AMP)IBA 01/2018
1	Serine (L-Serine)FDA Link 12/2017
1	CationsIBA 07/2017
1	muskIBA 03/2015
1	Lysophosphatidic Acid ReceptorsIBA 07/2012
1	Genetic Markers (Genetic Marker)IBA 05/2012
1	Adenosine Triphosphate (ATP)IBA 03/2012
1	proteasome maturation proteinIBA 01/2012
1	Lipase (Acid Lipase)FDA Link 01/2012
1	Fibroblast Growth Factor 10IBA 10/2011
1	Messenger RNA (mRNA)IBA 06/2010
1	C-Type Lectins (C-Type Lectin)IBA 02/2010
1	Aggrecans (Aggrecan)IBA 02/2010
1	Glucose (Dextrose)FDA LinkGeneric 10/2009
1	Retinoblastoma ProteinIBA 10/2009
1	Cyclin EIBA 10/2009
1	Fatty Acid Transport Proteins (Fatty Acid Transport Protein)IBA 08/2009

Therapy/Procedure

1	Deep Brain Stimulation 06/2020
1	Crowns (Crown, Dental) 11/2016
1	Ligation 01/2010