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 DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.

Genomics - 1 Nov 1998

Collin G B, Nishina P M, Marshall J D, Naggert J K

Abstract excerpt

The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various diseases including Alström syndrome, limb-girdle muscle dystrophy, and Miyoshi myopathy. Here, we report the exon-intron structure of DCTN1 along with characterization of the 5' upstream sequence and alternative splice variants previously identified by Tokito et al. (1996), Mol. Biol. Cell 7: 1167-1180). Knowledge...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to Child

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

Share to DNA Mutational Analysis

Share to DNA Primers

Share to Genetic Variation

Share to Molecular Sequence Data

Source

Identifiers

PMID: 9799602
DOI: 10.1006/geno.1998.5542

Genes

DCTN1

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 DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.PMID 9799602Read ↗

Mouse p150Glued (dynactin 1) cDNA sequence and evaluation as a candidate for the neuromuscular disease mutation mnd2.Semantic proximity Read ↗

Refinement of the DYT15 locus in myoclonus dystonia.Semantic proximity Read ↗

Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome.Semantic proximity Read ↗

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.Semantic proximity Read ↗

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.Semantic proximity Read ↗

DCTN1 mutations in Perry syndrome.Semantic proximity Read ↗

Reduced levels of ALS gene DCTN1 induce motor defects in DrosophilaSemantic proximity Read ↗

A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family.Semantic proximity Read ↗

Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.Semantic proximity Read ↗

Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.Semantic proximity Read ↗

A Novel Cosegregating DCTN1 Splice Site Variant in a Family with Bipolar Disorder May Hold the Key to Understanding the Etiology.Semantic proximity Read ↗

DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

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