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.
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20 August 2019
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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
Related Articles Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
PLoS Genet. 2019 Aug 19;15(8):e1008315
Authors: Moye AR, Bedoni N, Cunningham JG, Sanzhaeva U, Tucker ES, Mathers P, Peter VG, Quinodoz M, Paris LP, Coutinho-Santos L, Camacho P, Purcell MG, Winkelmann AC, Foster JA, Pugacheva EN, Rivolta C, Ramamurthy V
Abstract
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Cilia are evolutionarily conserved -
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome.
Related Articles Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome.
J Chin Med Assoc. 2019 Feb;82(2):110-114
Authors: Shen T, Gao JM, Shou T, Li L, Zhang JP, Zhao Q, Yan XM
Abstract
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BACKGROUND: Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with a wide spectrum of -
Arginine auxotrophy in PKD.
Related Articles Arginine auxotrophy in PKD.
Nat Rev Nephrol. 2018 12;14(12):721
Authors: Wang M
Abstract
PMID: 30341438 [PubMed - indexed for MEDLINE]
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Autosomal dominant PKD gets an atomic map.
Related Articles Autosomal dominant PKD gets an atomic map.
Nat Rev Nephrol. 2018 12;14(12):725-726
Authors: Welling PA
Abstract
PMID: 30279534 [PubMed - indexed for MEDLINE]
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DNAJB11: another player in ADPKD.
Related Articles DNAJB11: another player in ADPKD.
Nat Rev Nephrol. 2018 08;14(8):476
Authors: Allison SJ
PMID: 29777155 [PubMed - indexed for MEDLINE]
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Is ciliary Hedgehog signalling dispensable in the kidneys?
Related Articles Is ciliary Hedgehog signalling dispensable in the kidneys?
Nat Rev Nephrol. 2018 07;14(7):415-416
Authors: Otto EA
PMID: 29700487 [PubMed - indexed for MEDLINE]