Lamin B1 duplications cause autosomal dominant leukodystrophy (Q28261772)

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Kazumasa Saigoh

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Raphael Schiffmann

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Hideaki Asahara

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Takeshi Yamada

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Anulf Koeppen

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Kirk Hogan

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Louis J Ptácek

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Ying-Hui Fu

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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language of work or name

English

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publication date

October 2006

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published in

Nature Genetics

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volume

38

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issue

10

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page(s)

1114-23

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cites work

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Structural organization of the human gene (LMNB1) encoding nuclear lamin B1

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Expression of nuclear lamins in human tissues and cancer cell lines and transcription from the promoters of the lamin A/C and B1 genes

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

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A- and B-type lamins are differentially expressed in normal human tissues

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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A nuclear lamin is required for cytoplasmic organization and egg polarity in Drosophila

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The latest on leukodystrophies

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Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

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Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.

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Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

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Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

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Coupled homologous and nonhomologous repair of a double-strand break preserves genomic integrity in mammalian cells

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Identification of complex genomic breakpoint junctions in the t(9;11) MLL-AF9 fusion gene in acute leukemia

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A DNA damage repair mechanism is involved in the origin of chromosomal translocations t(4;11) in primary leukemic cells.

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repo encodes a glial-specific homeo domain protein required in the Drosophila nervous system.

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Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

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Alexander disease: putative mechanisms of an astrocytic encephalopathy

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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The nuclear lamina comes of age.

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MLC1: a novel protein in distal astroglial processes

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Autoantibodies to nuclear lamins

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In vitro posttranslational modification of lamin B cloned from a human T-cell line

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Cell surface expression of intermediate filament proteins vimentin and lamin B1 in human neutrophil spontaneous apoptosis

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