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Scholar Results 1 - 10 of about 51 citing Patton: Robinow syndrome. (0.10 sec) 

The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling …

- pubget.com [PDF] 
I Oishi, H Suzuki, N Onishi, R Takada, S … - Genes to Cells, 2003 - Mol Biology Soc Japan
1Department of Genome Sciences, Faculty of Medical Sciences, Graduate School of
Medicine, Kobe University, Chuo-ku, Kobe 650-0017, Japan 2Kondoh Differentiation
Signalling Project, Exploratory Research for Advanced Technology (ERATO), ...
Cited by 163 - Related articles - BL Direct - All 6 versions

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease


M Khajavi, K Inoue, JR Lupski - European Journal of Human Genetics, 2006 - nature.com
The nonsense-mediated decay (NMD) pathway is an mRNA surveillance system that
typically degrades transcripts containing premature termination codons (PTCs) in
order to prevent translation of unnecessary or aberrant transcripts. ...
Cited by 58 - Related articles - BL Direct - All 4 versions

Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor …

- pubget.com [PDF] 
M Sammar, S Stricker, GC Schwabe, C Sieber, … - Genes to Cells, 2004 - Mol Biology Soc Japan
The brachydactylies are a group of inherited disorders of the hands
characterized by shortened digits. Mutations in the tyrosine kinase receptor
Ror2 cause brachydactyly type B (BDB). Mutations in GDF5, a member of the ...
Cited by 44 - Related articles - BL Direct - All 7 versions

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and …


AR Afzal, S Jeffery - Human mutation, 2003 - interscience.wiley.com
Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with
short stature, generalized limb shortening, segmental defects of the spine,
brachydactyly, and a dysmorphic facial appearance. The gene encoding ...
Cited by 31 - Related articles - All 5 versions

[PDF] Taking it to the max: the genetic and developmental mechanisms coordinating midfacial …


TC Cox - Clinical genetics, 2004 - sdmgenetics.pitt.edu
Section Editors: Roderick R McInnes, e-mail: mcinnes@sickkids.on.ca Jacques
Michaud, e-mail: jmichaud@justine.umontreal.ca ... Taking it to the max: The
genetic and ... TC Cox School of Molecular and Biomedical Science, ...
Cited by 32 - Related articles - View as HTML - BL Direct - All 8 versions

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive …


GC Schwabe, B Trepczik, K Suring, N Brieske … - Developmental Dynamics, 2004 - interscience.wiley.com
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic
limb shortening, vertebral and craniofacial malformations and small external
genitals. We have analyzed Ror2 -/- mice as a model for the developmental ...
Cited by 27 - Related articles - BL Direct - All 4 versions

Expression and function of the Ror-family receptor tyrosine kinases during development: …


A Yoda, I Oishi, Y Minami - Journal of Receptors and Signal Transduction, 2003 - informahealthcare.com
Receptor tyrosine kinases (RTKs) play crucial roles in various developmental
processes. Ror‐family RTKs are characterized by the intracellular tyrosine
kinase domains, highly related to those of the Trk‐family RTKs, and by ...
Cited by 24 - Related articles - BL Direct - All 5 versions

ER-associated protein degradation is a common mechanism underpinning numerous …

- oxfordjournals.org
Y Chen, WP Bellamy, MC Seabra, MC Field, … - Human Molecular Genetics, 2005 - Oxford Univ Press
Correct folding of nascent polypeptide chains within the ER is critical for
function, assembly into multi-subunit complexes and trafficking through the
exocytic pathway for secretory and cell surface proteins. This process is ...
Cited by 17 - Related articles - BL Direct - All 9 versions

The Receptor Tyrosine Kinase Ror2 Associates with and Is Activated by Casein Kinase I { …

- jbc.org
S Kani, I Oishi, H Yamamoto, A Yoda, H Suzuki … - Journal of Biological Chemistry, 2004 - ASBMB
Ror2, a member of the mammalian Ror family of receptor tyrosine kinases, plays
important roles in developmental morphogenesis, although the mechanism
underlying activation of Ror2 remains largely elusive. We show that when ...
Cited by 16 - Related articles - BL Direct - All 5 versions

Cloning and expression pattern of chicken Ror2 and functional characterization of …


S Stricker, N Verhey Van Wijk, F Witte, N … - Developmental Dynamics, 2006 - interscience.wiley.com
Ror2 is a receptor tyrosine kinase mutated in the human syndromes Brachydactyly
type B (BDB) and recessive Robinow syndrome (RS). In this study, we used the
chick as a model to investigate the role of Ror2 in skeletogenesis and to ...
Cited by 12 - Related articles - BL Direct - All 3 versions


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