polydactyly 是什么意思，中文意思 | 多指英文怎么说医学英语中英文词汇翻译

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

S Rix, A Calmont, PJ Scambler… - Human molecular …, 2011 - Oxford Univ Press
IFT80, a protein component of intraflagellar transport (IFT) complex B, is required for the
formation, maintenance and functionality of cilia. Mutations in IFT80 cause Jeune asphyxiating
thoracic dystrophy (JATD) and short rib polydactyly (SRP) type III. Both diseases are ...
Cited by 2 - Related articles - All 6 versions

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

P Mill, PJ Lockhart, E Fitzpatrick… - The American Journal of …, 2011 - Elsevier
Defects in cilia formation and function result in a range of human skeletal and visceral
abnormalities. Mutations in several genes have been identified to cause a proportion of these
disorders, some of which display genetic (locus) heterogeneity. Mouse models are ...
Cited by 2 - Related articles - All 2 versions

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

[HTML] from nih.govC Thiel, K Kessler, A Giessl, A Dimmler… - The American Journal of …, 2011 - Elsevier
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 mapping
in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to ...
Cited by 3 - Related articles - All 4 versions

Congenital Polydactyly and Polymetatarsalia: Classification, Genetics, and Surgical Correction

JC Christensen, FB Leff, GM Lepow… - Journal of Foot and …, 2011 - jfas.org
The following article was first published in The Journal of Foot Surgery 30 years ago (Christensen
JC, Leff FB, Lepow GM, Schwartz RI, Colon PA, Arminio ST, Nixon P, Segel D, Leff S. Congenital
polydactyly and polymetatarsalia: classification, genetics, and surgical correction. J Foot ...
Related articles - Cached - All 3 versions

The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development

IC Dunn, IR Paton, AK Clelland… - Developmental …, 2011 - Wiley Online Library
Point mutations in the intronic ZRS region of Lmbr1, a limb specific cis-regulatory element of
Sonic hedgehog (Shh), are associated with polydactyly in humans, cats, and mice. We and others
have recently mapped the dominant preaxial polydactyly (Po) locus in Silkie chickens to a ...
Related articles - All 5 versions