Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Ciliary disorder of the skeleton
C Huber, V Cormier‐Daire - … Journal of Medical Genetics Part C …, 2012 - Wiley Online Library
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen
disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and …
disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and …
Genome-wide analyses identify KIF5A as a novel ALS gene
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …
Ellis-van Creveld syndrome
G Baujat, M Le Merrer - Orphanet journal of rare diseases, 2007 - Springer
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by
short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare …
short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare …
The retinal ciliopathies
NA Adams, A Awadein, HS Toma - Ophthalmic genetics, 2007 - Taylor & Francis
While the functions of many of the proteins located in or associated with the photoreceptor
cilia are poorly understood, disruption of the function of these proteins may result in a wide …
cilia are poorly understood, disruption of the function of these proteins may result in a wide …
NEK1 mutations cause short-rib polydactyly syndrome type majewski
C Thiel, K Kessler, A Giessl, A Dimmler… - The American Journal of …, 2011 - cell.com
Defects of ciliogenesis have been implicated in a wide range of human phenotypes and play
a crucial role in signal transduction and cell-cycle coordination. We used homozygosity …
a crucial role in signal transduction and cell-cycle coordination. We used homozygosity …
Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia
VL Ruiz-Perez, HJ Blair, ME Rodriguez-Andres… - 2007 - journals.biologists.com
EVC is a novel protein mutated in the human chondroectodermal dysplasia Ellis-van
Creveld syndrome (EvC; OMIM: 225500). We have inactivated Evc in the mouse and show …
Creveld syndrome (EvC; OMIM: 225500). We have inactivated Evc in the mouse and show …
The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion
LE Briggs, J Kakarla, A Wessels - Differentiation, 2012 - Elsevier
Partitioning of the four-chambered heart requires the proper formation, interaction and fusion
of several mesenchymal tissues derived from different precursor populations that together …
of several mesenchymal tissues derived from different precursor populations that together …
Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton
Primary cilia are microtubule‐based organelles that project from the cell surface to enable
transduction of various developmental signaling pathways. The process of intraflagellar …
transduction of various developmental signaling pathways. The process of intraflagellar …
Skeletal ciliopathies: a pattern recognition approach
A Handa, U Voss, A Hammarsjö… - Japanese journal of …, 2020 - Springer
Ciliopathy encompasses a diverse group of autosomal recessive genetic disorders caused
by mutations in genes coding for components of the primary cilia. Skeletal ciliopathy forms a …
by mutations in genes coding for components of the primary cilia. Skeletal ciliopathy forms a …