Definitions for ciliopathy
cil·iopa·thy

WiktionaryRate this definition:0.0 / 0 votes

1. ciliopathynoun

   Any of a range of genetic disorders involving defects in the cilia or flagella of cells

WikipediaRate this definition:0.0 / 0 votes

1. Ciliopathy

   A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it is possible for ciliopathies to be associated with unexpected proteins such as XPNPEP3, which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins.Significant advances in understanding the importance of cilia were made in the mid-1990s. However, the physiological role that this organelle plays in most tissues remains elusive. Additional studies of how ciliary dysfunction can lead to such severe disease and developmental pathologies is still a subject of current research.

WikidataRate this definition:0.0 / 0 votes

1. Ciliopathy

   A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. Although ciliopathies are usually considered to involve proteins that localize to the primary cilia or centrosomes, it is possible for ciliopathies to be associated with proteins such as XPNPEP3, which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins. Significant advances in understanding the importance of cilia were made beginning in the mid-1990s. However, "the physiological role that this organelle plays in most tissues remains elusive." Additional studies of "how ciliary dysfunction can lead to such severe disease and developmental pathologies" is a subject of current research.

How to pronounce ciliopathy?

1. Alex

   US English

   David

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   Mark

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   Daniel

   British

   Libby

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   Mia

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   Karen

   Australian

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   Australian

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   Indian

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   Neerja

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   Oliver

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   South African

How to say ciliopathy in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of ciliopathy in Chaldean Numerology is: 7

2. Pythagorean Numerology

   The numerical value of ciliopathy in Pythagorean Numerology is: 1

References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Ciliopathy
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Ciliopathy
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=ciliopathy