DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.

doi:10.1136/jmedgenet-2019-106805

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Article

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.

Journal of medical genetics - 1 Jul 2021

Marquez Jonathan, Mann Nina, Arana Kathya, Deniz Engin, Ji Weizhen, Konstantino Monica, Mis Emily K, Deshpande Charu, Jeffries Lauren, McGlynn Julie, Hugo Hannah, Widmeier Eugen, Konrad Martin, Tasic Velibor, Morotti Raffaella, Baptista Julia, Ellard Sian, Lakhani Saquib Ali, Hildebrandt Friedhelm, Khokha Mustafa K

Abstract excerpt

BACKGROUND: Cilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-known cause of several diseases that affect multiple organ systems including the kidneys, brain, heart, respiratory tract, skeleton and retina. METHODS: Among...

Topics

Animals
Brain
Child
Ciliopathies
Cohort Studies
Congenital Abnormalities
Disease Models, Animal
Female
Fetus
Gene Knockdown Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hedgehog Proteins

Humans

Kidney

Male

Membrane Proteins

Mutation

Pedigree

Signal Transduction

Source

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Identifiers

PMID: 32631816
DOI: 10.1136/jmedgenet-2019-106805
PMCID: PMC7785698

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