(Q28261772)

1

0 references

Kazumasa Saigoh

2

0 references

Raphael Schiffmann

3

0 references

Hideaki Asahara

4

0 references

Takeshi Yamada

5

0 references

Anulf Koeppen

6

0 references

Kirk Hogan

7

0 references

Louis J Ptácek

8

0 references

Ying-Hui Fu

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

9

0 references

language of work or name

English

0 references

publication date

October 2006

0 references

published in

Nature Genetics

0 references

volume

38

0 references

page(s)

1114-23

0 references

issue

10

0 references

cites work

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

21 April 2017

1 reference

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

21 April 2017

1 reference

Tandem repeats finder: a program to analyze DNA sequences

21 April 2017

1 reference

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

21 April 2017

1 reference

PipMaker--a web server for aligning two genomic DNA sequences

21 April 2017

1 reference

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

21 April 2017

1 reference

The latest on leukodystrophies

21 April 2017

1 reference

7 January 2021

Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

1 reference

7 January 2021

Nuclear lamins: their structure, assembly, and interactions

1 reference

7 January 2021

Drosophila as a model for human neurodegenerative disease

1 reference

7 January 2021

The locus elav of Drosophila melanogaster is expressed in neurons at all developmental stages.

1 reference

7 January 2021

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

1 reference

7 January 2021

moody encodes two GPCRs that regulate cocaine behaviors and blood-brain barrier permeability in Drosophila

1 reference

7 January 2021

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

1 reference

7 January 2021

Alexander disease: putative mechanisms of an astrocytic encephalopathy

1 reference

7 January 2021

Nuclear envelope, nuclear lamina, and inherited disease

1 reference

7 January 2021

Nuclear envelopathies--raising the nuclear veil

1 reference

7 January 2021

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

1 reference

7 January 2021

The nuclear lamina comes of age.

1 reference

7 January 2021

MLC1: a novel protein in distal astroglial processes

1 reference

7 January 2021

Autoantibodies to nuclear lamins

1 reference

7 January 2021

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

1 reference

7 January 2021

GFAP and nuclear lamins share an epitope recognized by monoclonal antibody J1-31.

1 reference

7 January 2021

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

1 reference

7 January 2021

Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes

1 reference

7 January 2021

An economic method for the fluorescent labeling of PCR fragments.

1 reference

7 January 2021

A procedure for in vitro amplification of DNA segments that lie outside the boundaries of known sequences

1 reference

7 January 2021

The origin of interspersed repeats in the human genome

1 reference

7 January 2021

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

1 reference

7 January 2021