PubMed Latest Articles

This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.

Some of the papers are free to read; others require subscriptions.

20 September 2020

  • A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.
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    A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.

    Mol Med Rep. 2020 Jul 31;:

    Authors: Zhou C, Xiao Y, Xie H, Liu S, Wang J

    Abstract
    Alström syndrome (AS) is a type of monogenic syndromic ciliopathy disease. The main clinical features of AS include cone‑rod malnutrition, sensorineural hearing loss, metabolic dysfunctions and

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  • Joubert Syndrome: A Molar Tooth Sign in Disguise.
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    Joubert Syndrome: A Molar Tooth Sign in Disguise.

    Cureus. 2020 Aug 13;12(8):e9718

    Authors: Shaik L, Ravalani A, Nelekar S, Gorijala VK, Shah K

    Abstract
    Joubert syndrome (JS) is a rare genetic ciliopathy characterized by the aplasia or malformation of the midbrain and or hindbrain structures. It usually manifests during the early stages with nonspecific neurological symptoms that progress to involve multiple systems. Its

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  • Motile ciliopathies.
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    Motile ciliopathies.

    Nat Rev Dis Primers. 2020 Sep 17;6(1):76

    Authors:

    PMID: 32943641 [PubMed - in process]

  • Motile ciliopathies.
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    Motile ciliopathies.

    Nat Rev Dis Primers. 2020 Sep 17;6(1):77

    Authors: Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H

    Abstract
    Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of

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