Article

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

2015-01-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f27393c7-e36e-5c5e-90dc-6f9dc208c11c
DOI: 10.1186/2046-2530-4-s1-p59
PMCID: PMC4519171

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathiesDOI 10.1186/2046-2530-4-s1-p59Read

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.Semantic proximity Read

Ciliary Dyneins and Dynein Related CiliopathiesSemantic proximity Read

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.Semantic proximity Read

DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.Semantic proximity Read

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.Semantic proximity Read

Cytoplasmic dynein-2 at a glanceSemantic proximity Read

KIAA0586 is Mutated in Joubert Syndrome.Semantic proximity Read

C11orf70 mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneinsSemantic proximity Read

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.Semantic proximity Read

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.Semantic proximity Read

Ciliopathies: Coloring outside of the lines.Semantic proximity Read

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromesSemantic proximity Read