Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

(2013) Partha Sen et al.   HUMAN MUTATION

SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE)

(2012) Chunyu Wang et al.   BREAST CANCER RESEARCH AND TREATMENT

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

(2012) P. Szafranski et al.   GENOME RESEARCH

ABCC6 Expression Is Regulated by CCAAT/Enhancer-Binding Protein Activating a Primate-Specific Sequence Located in the First Intron of the Gene

(2012) Marcin Ratajewski et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Analysis of Intron Sequence Features Associated with Transcriptional Regulation in Human Genes

(2012) Huimin Li et al.   PLoS One

Alveolar Capillary Dysplasia

(2011) Naomi B. Bishop et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

(2011) Mouna Messaoud Khelifi et al.   HUMAN MUTATION

CTCF-mediated functional chromatin interactome in pluripotent cells

(2011) Lusy Handoko et al.   NATURE GENETICS

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

(2010) Matteo Bovolenta et al.   BMC Medical Genetics

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

(2009) Paweł Stankiewicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CTCF: Master Weaver of the Genome

(2009) Jennifer E. Phillips et al.   CELL

Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster

(2009) Tsuyoshi Mishiro et al.   EMBO JOURNAL

Many human large intergenic noncoding RNAs associate with chromatin-modifying complexes and affect gene expression

(2009) Ahmad M. Khalil et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA