Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome)

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

(2011) Robert Smigiel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fatty acid modification of Wnt1 and Wnt3a at serine is prerequisite for lipidation at cysteine and is essential for Wnt signalling

(2011) Lenka Doubravska et al.   CELLULAR SIGNALLING

Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos

(2011) Steffen Biechele et al.   DEVELOPMENTAL BIOLOGY

Mutation update for the PORCN gene

(2011) Maria Paola Lombardi et al.   HUMAN MUTATION

The Lineage Contribution and Role of Gbx2 in Spinal Cord Development

(2011) Brian Luu et al.   PLoS One

Differential Palmit(e)oylation of Wnt1 on C93 and S224 Residues Has Overlapping and Distinct Consequences

(2011) Lisa M. Galli et al.   PLoS One

Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome

(2011) J. J. Barrott et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient

(2010) Anita L Lasocki et al.   AUSTRALASIAN JOURNAL OF DERMATOLOGY

PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing

(2010) Priscilla H. Fernandes et al.   Genetic Testing and Molecular Biomarkers

Phenotypic annotation of the mouse X chromosome

(2010) B. J. Cox et al.   GENOME RESEARCH

Importance ofPORCNand Wnt signaling pathways in embryogenesis

(2009) Suzanne E. Clements   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PORCNgene mutations and the protean nature of focal dermal hypoplasia

(2009) S.E. Clements et al.   BRITISH JOURNAL OF DERMATOLOGY

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

(2009) P Leoyklang et al.   CLINICAL GENETICS

NovelPORCNmutations in focal dermal hypoplasia

(2009) G Froyen et al.   CLINICAL GENETICS

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

(2009) S M Maas et al.   JOURNAL OF MEDICAL GENETICS

Wnt-expressing rat embryonic fibroblasts suppress Apo2L/TRAIL-induced apoptosis of human leukemia cells

(2008) Lenka Doubravská et al.   APOPTOSIS

 -Catenin has sequential roles in the survival and specification of ventral dermis

(2008) J. Ohtola et al.   DEVELOPMENT

Murine Dishevelled 3 Functions in Redundant Pathways with Dishevelled 1 and 2 in Normal Cardiac Outflow Tract, Cochlea, and Neural Tube Development

(2008) S. Leah Etheridge et al.   PLoS Genetics

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene

(2007) Suzanne E. Clements et al.   JOURNAL OF DERMATOLOGICAL SCIENCE