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.
26 October 2020
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Hum Genet. 2020 Oct 23;:
Authors: Nazlamova L, Thomas NS, Cheung MK, Legebeke J, Lord J, Pengelly RJ, Tapper WJ, Wheway G
Ciliopathies are a broad range of inherited developmental and degenerative diseases associated with structural or functional defects in motile or primary non-motile cilia. There are around 200 known ciliopathy disease genes and whilst genetic testing can provide an accurate diagnosis, 24-60% of ciliopathy patients who undergo genetic
[Clinicopathological features of Caroli disease/Caroli syndrome: an analysis of 21 cases].
Zhonghua Yi Xue Za Zhi. 2020 Oct 20;100(38):3005-3009
Authors: Li J, Liu LW, Luo J, Liu JX, Liu XJ, Zhu ZJ, Sun LY, Zhao XY
Objective: To summarize and compare clinicopathological features of Caroli disease and Caroli syndrome. Methods:
Etiology and impact on outcomes of polycystic kidney disease in abdominal aortic aneurysm.
Surg Today. 2020 Oct;50(10):1213-1222
Authors: Nakano M, Kimura N, Nonaka T, Mieno M, Tanno K, Sasabuchi Y, Kitada Y, Hori D, Yuri K, Matsumoto H, Yamaguchi A, Hanaoka K
PURPOSE: We investigated the etiology and impact on outcomes of polycystic kidney disease in
Acta Biomed. 2019 09 30;90(10-S):75-82
Authors: Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M
Infertility due to genetic mutations that cause other defects, besides infertility, is defined as syndromic. Here we describe three of these disorders
TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.
BMC Nephrol. 2019 09 13;20(1):355
Authors: Magistroni R, Mangolini A, Guzzo S, Testa F, Rapanà MR, Mignani R, Russo...