标题
BOC
is a modifier gene in holoprosencephaly
作者
关键词
-
出版物
HUMAN MUTATION
Volume 38, Issue 11, Pages 1464-1470
出版商
Wiley
发表日期
2017-07-05
DOI
10.1002/humu.23286
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now