A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

(2014) Morad Ansari et al.   European Journal of Medical Genetics

Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts

(2014) Denise Ferrera et al.   FASEB JOURNAL

Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs

(2014) Shu-Ting Lin et al.   Translational Neurodegeneration

Structural variations, the regulatory landscape of the genome and their alteration in human disease

(2013) Malte Spielmann et al.   BIOESSAYS

Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

(2013) Elisa Giorgio et al.   HUMAN MUTATION

Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model

(2013) Mary Y. Heng et al.   JOURNAL OF CLINICAL INVESTIGATION

MicroRNA-23a promotes myelination in the central nervous system

(2013) S.-T. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

(2012) Malte Spielmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development

(2012) A. John et al.   DEVELOPMENT

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

Copy number variation at 6q13 functions as a long-range regulator and is associated with pancreatic cancer risk

(2011) Liming Huang et al.   CARCINOGENESIS

Enhancer-adoption as a mechanism of human developmental disease

(2011) Laura A. Lettice et al.   HUMAN MUTATION

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

(2011) Jens Schuster et al.   NEUROGENETICS

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

(2010) Pietro Guaraldi et al.   AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL

Influence of Lamin A on the Mechanical Properties of Amphibian Oocyte Nuclei Measured by Atomic Force Microscopy

(2009) Jens Schäpe et al.   BIOPHYSICAL JOURNAL

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

(2009) A. Brussino et al.   EUROPEAN JOURNAL OF NEUROLOGY

EVOLUTION FROM FISH TO MAMMALS BY GENE DUPLICATION

(2009) SUSUMU OHNO et al.   HEREDITAS

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

(2009) J Chen et al.   JOURNAL OF MEDICAL GENETICS

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy

(2009) A Brussino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

(2009) Barbara D'haene et al.   PLoS Genetics

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

(2008) J. Sundblom et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A Novel Duplication Confirms the Involvement of 5q23.2 in Autosomal Dominant Leukodystrophy

(2008) Inge A. Meijer et al.   ARCHIVES OF NEUROLOGY

The integrity of a lamin-B1-dependent nucleoskeleton is a fundamental determinant of RNA synthesis in human cells

(2008) C. W. Tang et al.   JOURNAL OF CELL SCIENCE

Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b

(2007) D. M. McGaughey et al.   GENOME RESEARCH