Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
about
Population genomics of parallel adaptation in threespine stickleback using sequenced RAD tagsOverlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiationIdentification of novel Smad2 and Smad3 associated proteins in response to TGF-beta1The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokinesarrayCGHbase: an analysis platform for comparative genomic hybridization microarrays.When lamins go bad: nuclear structure and diseaseRegulation of postnatal bone homeostasis by TGFβFriend or foe: high bone mineral density on routine bone density scanning, a review of causes and managementLamina-associated polypeptide 1: protein interactions and tissue-selective functionsRole for perinuclear chromosome tethering in maintenance of genome stability.Sarsaparilla (Smilax Glabra Rhizome) extract inhibits migration and invasion of cancer cells by suppressing TGF-β1 pathwayNuclear envelope protein Lem2 is required for mouse development and regulates MAP and AKT kinasesNET37, a nuclear envelope transmembrane protein with glycosidase homology, is involved in myoblast differentiationAssessing signatures of selection through variation in linkage disequilibrium between taurine and indicine cattleqBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR dataInvolvement of Wnt signaling in dermal fibroblasts.Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.Diseases of the nuclear envelope.Genome-wide analysis links emerin to neuromuscular junction activity in Caenorhabditis elegans.Lamin-binding ProteinsMelorheostosis: Two atypical cases.Large-effect pleiotropic or closely linked QTL segregate within and across ten US cattle breeds.Nuclear envelope protein MAN1 regulates clock through BMAL1The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth."Laminopathies": a wide spectrum of human diseases.Inner nuclear membrane proteins: impact on human disease.LAP2 is widely overexpressed in diverse digestive tract cancers and regulates motility of cancer cells.Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor.12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly RegionMolecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.Traumatic fracture in a patient with osteopoikilosis.Benign spotted bones: a diagnostic dilemma.Melorheostosis: a rare entity: a case report.Signatures of diversifying selection in European pig breeds.Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosisA FoxO-Smad synexpression group in human keratinocytesTGFβ superfamily signaling regulators are differentially expressed in the developing and adult mouse testis.Phenylbutyl isoselenocyanate modulates phase I and II enzymes and inhibits 4-(methylnitrosamino)-1-(3-pyridyl)- 1-butanone-induced DNA adducts in mice.The nuclear envelope in genome organization, expression and stability.
P2860
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P2860
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@ast
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@en
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@nl
type
label
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@ast
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@en
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@nl
prefLabel
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@ast
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@en
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Loss-of-function mutations in ...... ff syndrome and melorheostosis
@en
P2093
Andy Willaert
Bjorn Menten
Filip Vanhoenacker
Jan Hellemans
Jean-Marie Naeyaert
Katrien Janssens
Kristin Verschueren
Olena Preobrazhenska
Paul J Coucke
Peter C M Verdonk
P2860
P2888
P304
P3181
P356
10.1038/NG1453
P407
P50
P577
2004-11-01T00:00:00Z
P5875
P6179
1000034762