4.5 Article

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies

Ivan Rosa e Silva et al.

Summary: This study provides a detailed analysis of the CEP164-TTBK2 complex and demonstrates how it is affected by ciliopathic mutations in CEP164. Moreover, insights into the coordination between binding to CEP164 and TTBK2 activities are also revealed.

STRUCTURE (2022)

Article Respiratory System

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

Amelia Shoemark et al.

Summary: This study suggests that motile ciliopathies are often underdiagnosed as a cause of bronchiectasis. Increased utilization of genetic testing can help identify bronchiectasis caused by motile ciliopathies and ensure appropriate management.

EUROPEAN RESPIRATORY JOURNAL (2022)

Article Genetics & Heredity

Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes

Alanna Strong et al.

Summary: Oral-facial-digital syndromes (OFDS) are a rare group of Mendelian disorders characterized by developmental abnormalities of the oral cavity, face, and digits caused by dysfunction of the primary cilium. These syndromes can be inherited in X-linked dominant, X-linked recessive, and autosomal recessive manners. Despite many causal genes being identified, up to 40% of OFDS cases have unknown genetic basis.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

Review Critical Care Medicine

Primary ciliary dyskinesia in the genomics age

Jane S. Lucas et al.

LANCET RESPIRATORY MEDICINE (2020)

Article Genetics & Heredity

The morbid genome of ciliopathies: an update

Hanan E. Shamseldin et al.

GENETICS IN MEDICINE (2020)

Article Multidisciplinary Sciences

Embryonic and foetal expression patterns of the ciliopathy gene CEP164

L. A. Devlin et al.

PLOS ONE (2020)

Article Respiratory System

Nasal Nitric Oxide Measurement in Primary Ciliary Dyskinesia A Technical Paper on Standardized Testing Protocols

Adam J. Shapiro et al.

ANNALS OF THE AMERICAN THORACIC SOCIETY (2020)

Article Genetics & Heredity

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

Zuzanna Bukowy-Bieryllo et al.

JOURNAL OF MEDICAL GENETICS (2019)

Article Oncology

Motile and non-motile cilia in human pathology: from function to phenotypes

Hannah M. Mitchison et al.

JOURNAL OF PATHOLOGY (2017)

Review Cell Biology

Genes and molecular pathways underpinning ciliopathies

Jeremy F. Reiter et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)

Article Cell Biology

Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis

Kerstin N. Schmidt et al.

JOURNAL OF CELL BIOLOGY (2012)