BOC is a modifier gene in holoprosencephaly

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

(2016) C. Mouden et al.   CLINICAL GENETICS

Hedgehog signalling

(2016) Raymond Teck Ho Lee et al.   DEVELOPMENT

Six3 dosage mediates the pathogenesis of holoprosencephaly

(2016) Xin Geng et al.   DEVELOPMENT

Dominant-negative kinase domain mutations inFGFR1can explain the clinical severity of Hartsfield syndrome

(2016) Sungkook Hong et al.   HUMAN MOLECULAR GENETICS

I only have eye for ewe: the discovery of cyclopamine and development of Hedgehog pathway-targeting drugs

(2016) James K. Chen   NATURAL PRODUCT REPORTS

Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling

(2015) Jane Y. Song et al.   DEVELOPMENTAL BIOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Structural and dynamic properties that govern the stability of an engineered fibronectin type III domain

(2015) Benjamin T. Porebski et al.   PROTEIN ENGINEERING DESIGN & SELECTION

Genetic Modifiers and Oligogenic Inheritance

(2015) M. Kousi et al.   Cold Spring Harbor Perspectives in Medicine

Dosage-Dependent Regulation of Pancreatic Cancer Growth and Angiogenesis by Hedgehog Signaling

(2014) Esha Mathew et al.   Cell Reports

Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function

(2014) M. Seppala et al.   Biology Open

Rescue of Holoprosencephaly in Fetal Alcohol-Exposed Cdon Mutant Mice by Reduced Gene Dosage of Ptch1

(2013) Mingi Hong et al.   PLoS One

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog

(2012) Benjamin D Solomon et al.   JOURNAL OF MEDICAL GENETICS

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions

(2012) Erich Roessler et al.   MOLECULAR GENETICS AND METABOLISM

Cdon Mutation and Fetal Ethanol Exposure Synergize to Produce Midline Signaling Defects and Holoprosencephaly Spectrum Disorders in Mice

(2012) Mingi Hong et al.   PLoS Genetics

Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

(2011) Gyu-Un Bae et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Boc and Gas1 Each Form Distinct Shh Receptor Complexes with Ptch1 and Are Required for Shh-Mediated Cell Proliferation

(2011) Luisa Izzi et al.   DEVELOPMENTAL CELL

Overlapping Roles and Collective Requirement for the Coreceptors GAS1, CDO, and BOC in SHH Pathway Function

(2011) Benjamin L. Allen et al.   DEVELOPMENTAL CELL

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH

(2011) Daniel E. Pineda-Alvarez et al.   HUMAN GENETICS

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

(2010) Lucilene Arilho Ribeiro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The molecular genetics of holoprosencephaly

(2010) Erich Roessler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Boc modifies the holoprosencephaly spectrum of Cdo mutant mice

(2010) W. Zhang et al.   Disease Models & Mechanisms

All Mammalian Hedgehog Proteins Interact with Cell Adhesion Molecule, Down-regulated by Oncogenes (CDO) and Brother of CDO (BOC) in a Conserved Manner

(2010) Jennifer M. Kavran et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly☆

(2010) Emily F. Kauvar et al.   MOLECULAR GENETICS AND METABOLISM

A novel SIX3 mutation segregates with holoprosencephaly in a large family

(2009) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pathogenesis of holoprosencephaly

(2009) Xin Geng et al.   JOURNAL OF CLINICAL INVESTIGATION

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations

(2008) Emanuele Leoncini et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY