scholarly journals Primary ciliary dyskinesia: current state of the art

2007 ◽  
Vol 92 (12) ◽  
pp. 1136-1140 ◽  
Author(s):  
A. Bush ◽  
R. Chodhari ◽  
N. Collins ◽  
F. Copeland ◽  
P. Hall ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
State Of The Art ◽  
Current State ◽  
Ciliary Dyskinesia

scholarly journals Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia

Cells ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 1614 ◽  
Author(s):  
Martyna Poprzeczko ◽  
Marta Bicka ◽  
Hanan Farahat ◽  
Rafal Bazan ◽  
Anna Osinka ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Primary Ciliary Dyskinesia ◽  
State Of The Art ◽  
Model Organisms ◽  
Phenotypic Changes ◽  
Current State ◽  
Evolutionarily Conserved ◽  
Motile Cilia ◽  
The Impact ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a recessive heterogeneous disorder of motile cilia, affecting one per 15,000–30,000 individuals; however, the frequency of this disorder is likely underestimated. Even though more than 40 genes are currently associated with PCD, in the case of approximately 30% of patients, the genetic cause of the manifested PCD symptoms remains unknown. Because motile cilia are highly evolutionarily conserved organelles at both the proteomic and ultrastructural levels, analyses in the unicellular and multicellular model organisms can help not only to identify new proteins essential for cilia motility (and thus identify new putative PCD-causative genes), but also to elucidate the function of the proteins encoded by known PCD-causative genes. Consequently, studies involving model organisms can help us to understand the molecular mechanism(s) behind the phenotypic changes observed in the motile cilia of PCD affected patients. Here, we summarize the current state of the art in the genetics and biology of PCD and emphasize the impact of the studies conducted using model organisms on existing knowledge.

scholarly journals Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

2015 ◽  
Vol 51 (2) ◽  
pp. 115-132 ◽  
Author(s):  
Adam J. Shapiro ◽  
Maimoona A. Zariwala ◽  
Thomas Ferkol ◽  
Stephanie D. Davis ◽  
Scott D. Sagel ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
State Of The Art ◽  
Consensus Recommendations ◽  
Ciliary Dyskinesia

Behavioral Genetics: Concepts for Research and Practice in Language Development and Disorders

1995 ◽  
Vol 38 (5) ◽  
pp. 1126-1142 ◽  
Author(s):  
Jeffrey W. Gilger
Keyword(s):  
Language Development ◽  
Behavioral Genetics ◽  
State Of The Art ◽  
Genetic Research ◽  
Great Promise ◽  
Behavioral Genetic ◽  
Fine Grained ◽  
Future Goals ◽  
Current State ◽  
Research Designs

This paper is an introduction to behavioral genetics for researchers and practioners in language development and disorders. The specific aims are to illustrate some essential concepts and to show how behavioral genetic research can be applied to the language sciences. Past genetic research on language-related traits has tended to focus on simple etiology (i.e., the heritability or familiality of language skills). The current state of the art, however, suggests that great promise lies in addressing more complex questions through behavioral genetic paradigms. In terms of future goals it is suggested that: (a) more behavioral genetic work of all types should be done—including replications and expansions of preliminary studies already in print; (b) work should focus on fine-grained, theory-based phenotypes with research designs that can address complex questions in language development; and (c) work in this area should utilize a variety of samples and methods (e.g., twin and family samples, heritability and segregation analyses, linkage and association tests, etc.).

Schizophrenia Research: Current State of the Art

1976 ◽  
Vol 21 (7) ◽  
pp. 497-498
Author(s):  
STANLEY GRAND
Keyword(s):  
State Of The Art ◽  
Current State

Pulmonary Infection Related to Mimivirus in Patient with Primary Ciliary Dyskinesia

2020 ◽  
Vol 26 (8) ◽  
Author(s):  
Fatemeh Sakhaee ◽  
Farzam Vaziri ◽  
Golnaz Bahramali ◽  
Seyed Davar Siadat ◽  
Abolfazl Fateh
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Pulmonary Infection ◽  
Ciliary Dyskinesia
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