Expanding the KIF4A-associated phenotype.

doi:10.1002/ajmg.a.62443

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Article

Expanding the KIF4A-associated phenotype.

American journal of medical genetics. Part A - 1 Dec 2021

Kalantari Silvia, Carlston Colleen, Alsaleh Norah, Abdel-Salam Ghada M H, Alkuraya Fowzan, Kato Mitsuhiro, Matsumoto Naomichi, Miyatake Satoko, Yamamoto Tatsuya, Fares-Taie Lucas, Rozet Jean-Michel, Chassaing Nicolas, Vincent-Delorme Catherine, Kang-Bellin Anjeung, McWalter Kirsty, Bupp Caleb, Palen Emily, Wagner Monisa D, Niceta Marcello, Cesario Claudia, Milone Roberta, Kaplan Julie, Wadman Erin, Dobyns William B, Filges Isabel

Abstract excerpt

Kinesin super family (KIF) genes encode motor kinesins, a family of evolutionary conserved proteins, involved in intracellular trafficking of various cargoes. These proteins are critical for various physiological processes including neuron function and survival, ciliary function and ciliogenesis, and cell-cycle progression. Recent evidence suggests that alterations in motor kinesin genes can lead to a variety of...

Topics

Abnormalities, Multiple
Brain
Epilepsy
Female
Genetic Association Studies
Humans
Intellectual Disability
Kinesins
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Neurodevelopmental Disorders

Neurons

Phenotype

Urogenital Abnormalities

Vesico-Ureteral Reflux

Source

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Identifiers

PMID: 34346154
DOI: 10.1002/ajmg.a.62443
PMCID: PMC9291479

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