Single-base substitutions in the CHM promoter as a cause of choroideremia

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

(2016) Alice E. Davidson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

(2016) Paul R. Freund et al.   Molecular Genetics & Genomic Medicine

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5′UTR Mutations and Copy-Number Variations ofNMNAT1

(2015) Frauke Coppieters et al.   HUMAN MUTATION

Genomic Determinants of THAP11/ZNF143/HCFC1 Complex Recruitment to Chromatin

(2015) Aurimas Vinckevicius et al.   MOLECULAR AND CELLULAR BIOLOGY

Pathogenic mechanisms and the prospect of gene therapy for choroideremia

(2015) Ioannis S Dimopoulos et al.   Expert Opinion on Orphan Drugs

ZNF143 provides sequence specificity to secure chromatin interactions at gene promoters

(2015) Swneke D. Bailey et al.   Nature Communications

Clinical utility gene card for: Choroideremia

(2013) Mariya Moosajee et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Modulation of gene expression via overlapping binding sites exerted by ZNF143, Notch1 and THAP11

(2013) Richard Patryk Ngondo-Mbongo et al.   NUCLEIC ACIDS RESEARCH

Rab GTPase Prenylation Hierarchy and Its Potential Role in Choroideremia Disease

(2013) Monika Köhnke et al.   PLoS One

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

UCNEbase—a database of ultraconserved non-coding elements and genomic regulatory blocks

(2012) Slavica Dimitrieva et al.   NUCLEIC ACIDS RESEARCH

Copy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia

(2012) Jonathan Y. Chi et al.   OPHTHALMIC GENETICS

MotifMap: integrative genome-wide maps of regulatory motif sites for model species

(2011) Kenneth Daily et al.   BMC BIOINFORMATICS

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

(2011) Gabriella Esposito et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Choroideremia: A review of general findings and pathogenesis

(2011) Razek Georges Coussa et al.   OPHTHALMIC GENETICS

Ronin/Hcf-1 binds to a hyperconserved enhancer element and regulates genes involved in the growth of embryonic stem cells

(2010) M. Dejosez et al.   GENES & DEVELOPMENT

Management of Gene Promoter Mutations in Molecular Diagnostics

(2009) K. M. K. de Vooght et al.   CLINICAL CHEMISTRY

The functional effect of pathogenic mutations in Rab escort protein 1

(2009) Y.V. Sergeev et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS