An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.
about
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeThe mode of Hedgehog binding to Ihog homologues is not conserved across different phylaCranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 geneReceptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming regionCharacterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalitiesTargeted disruption of Hotair leads to homeotic transformation and gene derepression.Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian HedgehogUse of a Conditional Ubr5 Mutant Allele to Investigate the Role of an N-End Rule Ubiquitin-Protein Ligase in Hedgehog Signalling and Embryonic Limb Development.A misplaced lncRNA causes brachydactyly in humans.Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.The Shh Topological Domain Facilitates the Action of Remote Enhancers by Reducing the Effects of Genomic DistancesGenesis and morphogenesis of limb synovial joints and articular cartilage.Mapping the Shh long-range regulatory domain.Synovial joint formation during mouse limb skeletogenesis: roles of Indian hedgehog signaling.Functional and topological characteristics of mammalian regulatory domains.A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.The fickle finger of fate.Enhancer adoption caused by genomic insertion elicits interdigital Shh expression and syndactyly in mouse.
P2860
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P2860
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
An inversion involving the mou ...... sregulation of Shh expression.
@en
An inversion involving the mou ...... sregulation of Shh expression.
@nl
type
label
An inversion involving the mou ...... sregulation of Shh expression.
@en
An inversion involving the mou ...... sregulation of Shh expression.
@nl
prefLabel
An inversion involving the mou ...... sregulation of Shh expression.
@en
An inversion involving the mou ...... sregulation of Shh expression.
@nl
P2093
P2860
P356
P1476
An inversion involving the mou ...... sregulation of Shh expression.
@en
P2093
Anne Helmrich
Evelin Schrock
Georg C Schwabe
Gundula Leschik
Jochen Hecht
Michael Niedermaier
Norbert Brieske
Paul B Selby
Petra Seemann
Stefan Mundlos
P2860
P304
P356
10.1172/JCI23675
P407
P577
2005-04-01T00:00:00Z