A “so cilia” network: cilia proteins start “social” networking

Saudou, Frédéric

doi:10.1172/jci62971

Cited by 2 publications

(6 citation statements)

References 21 publications

(24 reference statements)

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“…Later studies have shown that these proteins are involved in the formation and function of cilia, primitive sensory organelles present in many cell types. 56 Primary cilia are non-motile, while other cilia are motile because they have a flexible microtubule configuration. 56 BBS and overlapping syndromes, such as Joubert syndrome and Meckel-Gruber syndrome, are called 'ciliopathies'.…”

Section: Bbs and Other Ciliopathiesmentioning

confidence: 99%

“…56 Primary cilia are non-motile, while other cilia are motile because they have a flexible microtubule configuration. 56 BBS and overlapping syndromes, such as Joubert syndrome and Meckel-Gruber syndrome, are called 'ciliopathies'. 56 The phenotypic spectrum of ciliopathies is broad and may include holoprosencephaly, 57 58 for which DI has been proposed.…”

Section: Bbs and Other Ciliopathiesmentioning

confidence: 99%

“…56 BBS and overlapping syndromes, such as Joubert syndrome and Meckel-Gruber syndrome, are called 'ciliopathies'. 56 The phenotypic spectrum of ciliopathies is broad and may include holoprosencephaly, 57 58 for which DI has been proposed. 11 Biochemical studies identified two protein complexes containing seven and three of the 15+ BBS proteins.…”

Section: Bbs and Other Ciliopathiesmentioning

confidence: 99%

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Digenic inheritance in medical genetics

2013

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Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are only dozens of human disease phenotypes with evidence for DI in some pedigrees. The advent of high-throughput sequencing (HTS) has made it simpler to identify monogenic disease causes and could similarly simplify proving DI because one can simultaneously find mutations in two genes in the same sample. However, through 2012, I could find only one example of human DI in which HTS was used; in that example, HTS found only the second of the two genes. To explore the gap between expectation and reality, I tried to collect all examples of human DI with a narrow definition and characterise them according to the types of evidence collected, and whether there has been replication. Two strong trends are that knowledge of candidate genes and knowledge of protein–protein interactions (PPIs) have been helpful in most published examples of human DI. By contrast, the positional method of genetic linkage analysis, has been mostly unsuccessful in identifying genes underlying human DI. Based on the empirical data, I suggest that combining HTS with growing networks of established PPIs may expedite future discoveries of human DI and strengthen the evidence for them.

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Section: Bbs and Other Ciliopathiesmentioning

confidence: 99%

Section: Bbs and Other Ciliopathiesmentioning

confidence: 99%

Section: Bbs and Other Ciliopathiesmentioning

confidence: 99%

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Digenic inheritance in medical genetics

2013

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“…Genetic mutations compromising the proper cilia functioning are associated with defects in ciliogenesis and they form new class of diseases called ciliopathies [6]. …”

Section: Introductionmentioning

confidence: 99%

“…Mutations in over 30 different genes can lead to cilia defects and complex interactions among ciliopathy-associated proteins [ 5 ]. Genetic mutations compromising the proper cilia functioning are associated with defects in ciliogenesis and they form new class of diseases called ciliopathies [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Fetus Sound Stimulation: Cilia Memristor Effect of Signal Transduction

Jankovic-Raznatovic

Dragojević-Dikić

Rakic

et al. 2014

BioMed Research International

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Background. This experimental study evaluates fetal middle cerebral artery (MCA) circulation after the defined prenatal acoustical stimulation (PAS) and the role of cilia in hearing and memory and could explain signal transduction and memory according to cilia optical-acoustical properties. Methods. PAS was performed twice on 119 no-risk term pregnancies. We analyzed fetal MCA circulation before, after first and second PAS. Results. Analysis of the Pulsatility index basic (PIB) and before PAS and Pulsatility index reactive after the first PAS (PIR 1) shows high statistical difference, representing high influence on the brain circulation. Analysis of PIB and Pulsatility index reactive after the second PAS (PIR 2) shows no statistical difference. Cilia as nanoscale structure possess magnetic flux linkage that depends on the amount of charge that has passed between two-terminal variable resistors of cilia. Microtubule resistance, as a function of the current through and voltage across the structure, leads to appearance of cilia memory with the “memristor” property. Conclusion. Acoustical and optical cilia properties play crucial role in hearing and memory processes. We suggest that fetuses are getting used to sound, developing a kind of memory patterns, considering acoustical and electromagnetically waves and involving cilia and microtubules and try to explain signal transduction.

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A “so cilia” network: cilia proteins start “social” networking

Cited by 2 publications

References 21 publications

Digenic inheritance in medical genetics

Digenic inheritance in medical genetics

Fetus Sound Stimulation: Cilia Memristor Effect of Signal Transduction

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