Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare dis...
Main Authors: | Marjo K Hytönen, Meharji Arumilli, Anu K Lappalainen, Marta Owczarek-Lipska, Vidhya Jagannathan, Sruthi Hundi, Elina Salmela, Patrick Venta, Eva Sarkiala, Tarja Jokinen, Daniela Gorgas, Juha Kere, Pekka Nieminen, Cord Drögemüller, Hannes Lohi |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2016-05-01
|
Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC4871343?pdf=render |
Similar Items
-
Assembly and analysis of unmapped genome sequence reads reveal novel sequence and variation in dogs
by: Holden, Lindsay A., et al.
Published: (2018) -
webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering
by: Meharji Arumilli, et al.
Published: (2020-03-01) -
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.
by: Julia Niskanen, et al.
Published: (2017-01-01) -
A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.
by: Marjo K Hytönen, et al.
Published: (2012-01-01) -
ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs.
by: Saila Holopainen, et al.
Published: (2017-02-01)