Alterations to the remote control of Shh gene expression cause congenital abnormalities

A novel mutation in theSHHlong-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

(2012) Mohammad M. Al-Qattan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

(2012) Julia E. VanderMeer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Opposing Functions of the ETS Factor Family Define Shh Spatial Expression in Limb Buds and Underlie Polydactyly

(2012) Laura A. Lettice et al.   DEVELOPMENTAL CELL

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

(2012) Tobias Laurell et al.   HUMAN MUTATION

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Human limb abnormalities caused by disruption of hedgehog signaling

(2012) Eve Anderson et al.   TRENDS IN GENETICS

Copy-Number Variations, Noncoding Sequences, and Human Phenotypes

(2011) Eva Klopocki et al.   Annual Review of Genomics and Human Genetics

Enhancer-adoption as a mechanism of human developmental disease

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

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

(2010) J Albuisson et al.   CLINICAL GENETICS

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

(2010) Muhammad Farooq et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Widespread transcription at neuronal activity-regulated enhancers

(2010) Tae-Kyung Kim et al.   NATURE

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

(2009) CN Semerci et al.   CLINICAL GENETICS

A cluster of three long-range enhancers directs regional Shh expression in the epithelial linings

(2009) T. Sagai et al.   DEVELOPMENT

FGF-Regulated Etv Genes Are Essential for Repressing Shh Expression in Mouse Limb Buds

(2009) Zhen Zhang et al.   DEVELOPMENTAL CELL

Fgf-Dependent Etv4/5 Activity Is Required for Posterior Restriction of Sonic hedgehog and Promoting Outgrowth of the Vertebrate Limb

(2009) Junhao Mao et al.   DEVELOPMENTAL CELL

HnRNP U mediates the long-range regulation of Shh expression during limb development

(2009) Jing Zhao et al.   HUMAN MOLECULAR GENETICS

A specific mutation in the distant sonic hedgehog (SHH)cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

(2009) Dagmar Wieczorek et al.   HUMAN MUTATION

Chromosomal Dynamics at the Shh Locus: Limb Bud-Specific Differential Regulation of Competence and Active Transcription

(2008) Takanori Amano et al.   DEVELOPMENTAL CELL

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

(2008) Dominic Furniss et al.   HUMAN MOLECULAR GENETICS