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000136985 0247_ $$2doi$$a10.1002/humu.22348
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000136985 0247_ $$2ISSN$$a1098-1004
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000136985 037__ $$aDZNE-2020-03307
000136985 041__ $$aEnglish
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000136985 1001_ $$aGiorgio, Elisa$$b0
000136985 245__ $$aAnalysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
000136985 260__ $$aNew York, NY [u.a.]$$bWiley-Liss$$c2013
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000136985 520__ $$aAutosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication-based mechanisms such fork stalling and template switching or microhomology-mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients' fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele-specific LMNB1 expression levels.
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000136985 542__ $$2Crossref$$i2015-09-01$$uhttp://doi.wiley.com/10.1002/tdm_license_1.1
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000136985 650_7 $$2NLM Chemicals$$aLamin Type B
000136985 650_7 $$2NLM Chemicals$$aRNA, Messenger
000136985 650_7 $$2NLM Chemicals$$alamin B1
000136985 650_7 $$09007-49-2$$2NLM Chemicals$$aDNA
000136985 650_2 $$2MeSH$$aAdult
000136985 650_2 $$2MeSH$$aBase Sequence
000136985 650_2 $$2MeSH$$aChromosome Breakpoints
000136985 650_2 $$2MeSH$$aComparative Genomic Hybridization
000136985 650_2 $$2MeSH$$aDNA: chemistry
000136985 650_2 $$2MeSH$$aDNA: genetics
000136985 650_2 $$2MeSH$$aGene Duplication
000136985 650_2 $$2MeSH$$aHumans
000136985 650_2 $$2MeSH$$aLamin Type B: genetics
000136985 650_2 $$2MeSH$$aLamin Type B: metabolism
000136985 650_2 $$2MeSH$$aMolecular Sequence Data
000136985 650_2 $$2MeSH$$aNucleic Acid Conformation
000136985 650_2 $$2MeSH$$aPelizaeus-Merzbacher Disease: genetics
000136985 650_2 $$2MeSH$$aPelizaeus-Merzbacher Disease: metabolism
000136985 650_2 $$2MeSH$$aRNA, Messenger: genetics
000136985 650_2 $$2MeSH$$aRNA, Messenger: metabolism
000136985 7001_ $$aRolyan, Harshvardhan$$b1
000136985 7001_ $$aKropp, Laura$$b2
000136985 7001_ $$aChakka, Anish Baswanth$$b3
000136985 7001_ $$aYatsenko, Svetlana$$b4
000136985 7001_ $$aDi Gregorio, Eleonora$$b5
000136985 7001_ $$aLacerenza, Daniela$$b6
000136985 7001_ $$aVaula, Giovanna$$b7
000136985 7001_ $$aTalarico, Flavia$$b8
000136985 7001_ $$aMandich, Paola$$b9
000136985 7001_ $$aToro, Camilo$$b10
000136985 7001_ $$aPierre, Eleonore Eymard$$b11
000136985 7001_ $$aLabauge, Pierre$$b12
000136985 7001_ $$aCapellari, Sabina$$b13
000136985 7001_ $$aCortelli, Pietro$$b14
000136985 7001_ $$aVairo, Filippo Pinto$$b15
000136985 7001_ $$aMiguel, Diego$$b16
000136985 7001_ $$aStubbolo, Danielle$$b17
000136985 7001_ $$aMarques, Lourenco Charles$$b18
000136985 7001_ $$aGahl, William$$b19
000136985 7001_ $$aBoespflug-Tanguy, Odile$$b20
000136985 7001_ $$aMelberg, Atle$$b21
000136985 7001_ $$aHassin-Baer, Sharon$$b22
000136985 7001_ $$aCohen, Oren S$$b23
000136985 7001_ $$aPjontek, Rastislav$$b24
000136985 7001_ $$aGrau, Armin$$b25
000136985 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b26$$udzne
000136985 7001_ $$aFogel, Brent$$b27
000136985 7001_ $$aMeijer, Inge$$b28
000136985 7001_ $$aRouleau, Guy$$b29
000136985 7001_ $$aBouchard, Jean-Pierre L$$b30
000136985 7001_ $$aGanapathiraju, Madhavi$$b31
000136985 7001_ $$aVanderver, Adeline$$b32
000136985 7001_ $$aDahl, Niklas$$b33
000136985 7001_ $$aHobson, Grace$$b34
000136985 7001_ $$0P:(DE-HGF)0$$aBrusco, Alfredo$$b35$$eCorresponding author
000136985 7001_ $$aBrussino, Alessandro$$b36
000136985 7001_ $$aPadiath, Quasar Saleem$$b37
000136985 77318 $$2Crossref$$3journal-article$$a10.1002/humu.22348$$b : Wiley, 2013-05-28$$n8$$p1160-1171$$tHuman Mutation$$v34$$x1059-7794$$y2013
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