Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Human phenotypes and animal knockout models of genetic autonomic disorders.

Journal of biomedical science - 1 Jan 2000

Usera Phillip C, Vincent Simi, Robertson David

Abstract excerpt

Norepinephrine (NE) is a crucial neurotransmitter involved in autonomic regulation of blood pressure. Dopamine beta-hydroxylase (DBH), the norepinephrine transporter (NET), and the vesicular monoamine transporter subtype 2 catalyze intracellular NE biosynthesis, NE reuptake from the synapse, and vesicular transport, respectively. Genetic disorders in humans have been identified that render DBH, and the NET...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autonomic Nervous System Diseases
Share to Dopamine beta-Hydroxylase
Share to Membrane Glycoproteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Transport Proteins

Share to Neuropeptides

Share to Norepinephrine Plasma Membrane Transport Proteins

Share to Symporters

Share to Vesicular Monoamine Transport Proteins

Source

Identifiers

PMID: 14730204
DOI: 10.1007/BF02256543

Genes

DBH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human phenotypes and animal knockout models of genetic autonomic disorders.PMID 14730204Read ↗

Genetic basis of autonomic dysfunction.Semantic proximity Read ↗

Selective genetic disruption of dopaminergic, serotonergic and noradrenergic neurotransmission: insights into motor, emotional and addictive behaviour.Semantic proximity Read ↗

Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.Semantic proximity Read ↗

Genetic approaches to studying norepinephrine function: knockout of the mouse norepinephrine transporter gene.Semantic proximity Read ↗

Genetic or acquired deficits in the norepinephrine transporter: current understanding of clinical implicationsSemantic proximity Read ↗

Mouse models for inherited monoamine neurotransmitter disordersSemantic proximity Read ↗

Genetic basis of clinical catecholamine disorders.Semantic proximity Read ↗

[From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension].Semantic proximity Read ↗

Genetic autonomic disorders.Semantic proximity Read ↗

?2-Adrenergic Receptor Subtypes ? Novel Functions Uncovered in Gene-Targeted Mouse ModelsSemantic proximity Read ↗

Dopamine beta-hydroxylase deficiency.Semantic proximity Read ↗

Coexpression of cholinergic and noradrenergic phenotypes in human and nonhuman autonomic nervous system.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.