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1. Full Text Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis
by Kurosaka, Hiroshi and Iulianella, Angelo and Williams, Trevor and Trainor, Paul A
The Journal of clinical investigation, ISSN 0021-9738, 04/2014, Volume 124, Issue 4, pp. 1660 - 1671
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Cell Proliferation | Humans | Interferon Regulatory Factors - metabolism | Hedgehog Proteins - metabolism | Male | Acyltransferases - metabolism | Gene Regulatory Networks | Phosphoproteins - metabolism | Wnt Proteins - metabolism | Acyltransferases - genetics | Wnt Proteins - genetics | Hedgehog Proteins - genetics | Mice, Mutant Strains | Cell Death | Female | Patched Receptors | Signal Transduction | Receptors, Cell Surface - metabolism | Mice, Transgenic | Cleft Lip - metabolism | Pregnancy | Cleft Lip - genetics | Animals | Trans-Activators - metabolism | Mice | Mutation | Wnt Proteins - antagonists & inhibitors | Patched-1 Receptor | Cleft Lip - etiology | Receptors, Cell Surface - genetics | Cleft lip | Physiological aspects | Development and progression | Genetic aspects | Cellular signal transduction | Research | Wnt proteins | Hedgehog proteins | Cell growth | Pathogenesis | Genomes | Laboratory animals | Gene expression | Apoptosis | Defects | Index Medicus | Abridged Index Medicus
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2. Full Text Wnt9b-dependent FGF signaling is crucial for outgrowth of the nasal and maxillary processes during upper jaw and lip development
by Jin, Yong-Ri and Han, Xiang Hua and Taketo, Makoto M and Yoon, Jeong Kyo
Development (Cambridge), ISSN 0950-1991, 05/2012, Volume 139, Issue 10, pp. 1821 - 1830
β-catenin | Cleft palate | Cleft lip | Mouse | FGF signaling | Orofacial morphogenesis | WNT | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Nose - embryology | Jaw - embryology | Cell Proliferation | Lip - embryology | Fibroblast Growth Factors - genetics | Apoptosis - genetics | Cleft Palate - genetics | Wnt Proteins - metabolism | Cell Movement - genetics | Cell Movement - physiology | Lip - metabolism | Fibroblast Growth Factors - metabolism | In Situ Hybridization | Wnt Proteins - genetics | Real-Time Polymerase Chain Reaction | Organ Culture Techniques | Nose - metabolism | Palate - metabolism | Microscopy, Electron, Scanning | Maxilla - embryology | Cells, Cultured | Cleft Lip - metabolism | beta Catenin - metabolism | Blotting, Western | Palate - embryology | Mice, Knockout | Cleft Lip - genetics | Animals | Maxilla - metabolism | Jaw - metabolism | Cleft Palate - metabolism | Mice | Apoptosis - physiology | Index Medicus | Cell proliferation | Fibroblast growth factor | Jaw | Mesenchyme | Wnt protein | catenin | Gene expression | Maxilla | Cleft lip/palate | Lip | Development | Palate | Mutation | β-Catenin
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3. Full Text Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during mouse lip development
by Nakatomi, Mitsushiro and Ludwig, Kerstin U and Knapp, Michael and Kist, Ralf and Lisgo, Steven and Ohshima, Hayato and Mangold, Elisabeth and Peters, Heiko
Development (Cambridge), ISSN 0950-1991, 11/2020, Volume 147, Issue 21, p. dev189175
Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Nose - embryology | Cleft Lip - embryology | Homeodomain Proteins - metabolism | Humans | Lip - embryology | Bone Morphogenetic Protein 4 - metabolism | Oxygen - metabolism | Hypoxia - metabolism | Cleft Lip - pathology | Gene Expression Regulation, Developmental | MSX1 Transcription Factor - genetics | Female | Mesoderm - embryology | Morphogenesis - genetics | Mice, Inbred C57BL | PAX9 Transcription Factor - metabolism | Hypoxia - embryology | Up-Regulation - genetics | Mutation - genetics | MSX1 Transcription Factor - deficiency | Cleft Lip - genetics | Hypoxia - genetics | Animals | Mesoderm - metabolism | MSX1 Transcription Factor - metabolism | Genome | Respiration | Phenytoin | Index Medicus
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4. Full Text Lrp6-mediated canonical Wnt signaling is required for lip formation and fusion
by Lanying Song and Yunhong Li and Kai Wang and Ya-Zhou Wang and Andrei Molotkov and Lifang Gao and Tianyu Zhao and Takashi Yamagami and Yongping Wang and Qini Gan and David E. Pleasure and Chengji J. Zhou
Development (Cambridge), ISSN 0950-1991, 09/2009, Volume 136, Issue 18, pp. 3161 - 3171
Cleft lip | Msx | Mouse | Lrp6 | Wnt | Retinoic acid | Lip morphogenesis | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | LDL-Receptor Related Proteins - metabolism | Cell Proliferation | Bone Morphogenetic Protein 4 - genetics | Homeodomain Proteins - metabolism | Lip - embryology | Wnt Proteins - metabolism | Bone Morphogenetic Protein 4 - metabolism | LDL-Receptor Related Proteins - genetics | Retinal Dehydrogenase | Lip - metabolism | Wnt Proteins - genetics | Embryo, Mammalian - anatomy & histology | Cleft Lip - pathology | MSX1 Transcription Factor - genetics | Lip - anatomy & histology | Promoter Regions, Genetic | Low Density Lipoprotein Receptor-Related Protein-6 | Mice, Transgenic | Aldehyde Oxidoreductases - genetics | Cleft Lip - metabolism | Homeodomain Proteins - genetics | Aldehyde Oxidoreductases - metabolism | Embryo, Mammalian - physiology | Animals | Signal Transduction - physiology | Mice | Apoptosis - physiology | MSX1 Transcription Factor - metabolism | Morphogenesis - physiology | Index Medicus
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5. Full Text Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci
by Leslie, Elizabeth J and Taub, Margaret A and Liu, Huan and Steinberg, Karyn Meltz and Koboldt, Daniel C and Zhang, Qunyuan and Carlson, Jenna C and Hetmanski, Jacqueline B and Wang, Hang and Larson, David E and Fulton, Robert S and Kousa, Youssef A and Fakhouri, Walid D and Naji, Ali and Ruczinski, Ingo and Begum, Ferdouse and Parker, Margaret M and Busch, Tamara and Standley, Jennifer and Rigdon, Jennifer and Hecht, Jacqueline T and Scott, Alan F and Wehby, George L and Christensen, Kaare and Czeizel, Andrew E and Deleyiannis, Frederic W.-B and Schutte, Brian C and Wilson, Richard K and Cornell, Robert A and Lidral, Andrew C and Weinstock, George M and Beaty, Terri H and Marazita, Mary L and Murray, Jeffrey C
American journal of human genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 397 - 411
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epithelial Cells - metabolism | Receptor, Fibroblast Growth Factor, Type 2 - metabolism | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | PAX7 Transcription Factor - genetics | Cleft Palate - genetics | PAX7 Transcription Factor - metabolism | Brain - abnormalities | Mutation, Missense | Amino Acid Sequence | Cell Line | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Mice, Inbred C57BL | Gene Expression Regulation | Transcription Factors - genetics | Sequence Analysis, DNA | Zebrafish - genetics | Transcription Factors - metabolism | Carrier Proteins - genetics | Cleft Lip - genetics | Animals | Carrier Proteins - metabolism | Alleles | Mice | Polymorphism, Single Nucleotide | Receptor, Fibroblast Growth Factor, Type 2 - genetics | Quantitative trait loci | Genome-wide association studies | Cleft lip | Genetic variation | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Deformities | Biological variation | Mutation | Mouth | Index Medicus
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6. Full Text SUMO1 Haploinsufficiency Leads to Cleft Lip and Palate
by Fowzan S. Alkuraya and Irfan Saadi and Jennifer J. Lund and Annick Turbe-Doan and Cynthia C. Morton and Richard L. Maas
Science (American Association for the Advancement of Science), ISSN 0036-8075, 9/2006, Volume 313, Issue 5794, pp. 1751 - 1751
Cleft palate | Palatal consonants | Palate | Epithelium | Haploinsufficiency | Cleft lip and palate | Brevia | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Biological and medical sciences | Medical sciences | Facial bones, jaws, teeth, parodontium: diseases, semeiology | Otorhinolaryngology. Stomatology | Non tumoral diseases | Translocation, Genetic | Humans | Child, Preschool | Protein Tyrosine Phosphatases - metabolism | SUMO-1 Protein - physiology | Cleft Palate - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Stem Cells - metabolism | Embryo, Mammalian - metabolism | Small Ubiquitin-Related Modifier Proteins - physiology | Morphogenesis | Small Ubiquitin-Related Modifier Proteins - genetics | Protein Tyrosine Phosphatases - genetics | In Situ Hybridization | SUMO-1 Protein - genetics | Gene Expression Regulation, Developmental | Karyotyping | Adult | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Palate - metabolism | Cell Line | Mice, Inbred C57BL | Nuclear Proteins - metabolism | Gene Dosage | Palate - embryology | Cleft Lip - genetics | Animals | Embryo, Mammalian - cytology | Mice | Research | Craniofacial abnormalities | Analysis | Proteins | Genotype & phenotype | Deformities | Genes | Mouth | Gene expression | Chromosomes | Index Medicus
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7. Full Text Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions
by Kwa, Mei Qi and Huynh, Jennifer and Reynolds, Eric C and Hamilton, John A and Scholz, Glen M
Cellular signalling, ISSN 0898-6568, 07/2015, Volume 27, Issue 7, pp. 1509 - 1516
Protein degradation | IRF6 | Mutation | RIPK4 | Cleft lip/palate | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Lip - abnormalities | Phosphorylation | Humans | Transcriptional Activation | Interferon Regulatory Factors - metabolism | Knee - pathology | Half-Life | Knee - abnormalities | Cytoplasm - metabolism | JNK Mitogen-Activated Protein Kinases - metabolism | NF-kappa B - metabolism | Syndactyly - pathology | Mutation, Missense | Lip - metabolism | Cysts - metabolism | Cleft Lip - pathology | HEK293 Cells | Eye Abnormalities - metabolism | Protein-Serine-Threonine Kinases - metabolism | Lip - pathology | Protein Structure, Tertiary | Recombinant Fusion Proteins - biosynthesis | Cell Line | Promoter Regions, Genetic | Signal Transduction | Syndactyly - metabolism | Protein-Serine-Threonine Kinases - genetics | Interferon Regulatory Factors - genetics | Recombinant Fusion Proteins - chemistry | Cleft Lip - metabolism | Cysts - pathology | beta Catenin - metabolism | Eye Abnormalities - pathology | Cleft Palate - pathology | Recombinant Fusion Proteins - genetics | Cleft Palate - metabolism | Genetic aspects | Interferon | Biological response modifiers | Proteolysis | Protein kinases | Index Medicus
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8. Full Text Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis
by Everson, Joshua L and Fink, Dustin M and Yoon, Joon Won and Leslie, Elizabeth J and Kietzman, Henry W and Ansen-Wilson, Lydia J and Chung, Hannah M and Walterhouse, David O and Marazita, Mary L and Lipinski, Robert J
Development (Cambridge), ISSN 0950-1991, 2017, Volume 144, Issue 11, pp. 2082 - 2091
Human | Sonic hedgehog | Cleft lip | Mouse | Cranial neural crest cell | Medial nasal process | Orofacial morphogenesis | Forkhead box | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Cell Proliferation | Genetic Association Studies | Morphogenesis - genetics | Humans | Lip - embryology | Mice, Inbred C57BL | Neural Crest - pathology | Hedgehog Proteins - metabolism | Signal Transduction - genetics | Genetic Loci | Forkhead Transcription Factors - genetics | Down-Regulation - genetics | Lip - metabolism | Cleft Lip - genetics | Animals | Ethnic Groups - genetics | Cleft Lip - pathology | Forkhead Transcription Factors - metabolism | Gene Expression Regulation, Developmental | Skull - pathology | Polymorphism, Single Nucleotide - genetics | Mesoderm - metabolism | Binding Sites | Mesoderm - pathology | Mesenchyme | Pathogenesis | Congenital defects | Single-nucleotide polymorphism | Gene expression | Neural crest | Cleft lip/palate | Morphogenesis | Signal transduction | Hedgehog protein | Forkhead protein | Ligands | Skull | Physical growth | Index Medicus
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9. Full Text Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate
by Liu, Huan and Leslie, Elizabeth J and Jia, Zhonglin and Smith, Tiffany and Eshete, Mekonen and Butali, Azeez and Dunnwald, Martine and Murray, Jeffrey and Cornell, Robert A
Human molecular genetics, ISSN 0964-6906, 2016, Volume 25, Issue 4, pp. 766 - 776
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | Zebrafish Proteins - metabolism | Humans | Interferon Regulatory Factors - metabolism | Interferon Regulatory Factors - genetics | Male | Zebrafish | Cleft Palate - genetics | Transcription Factors - genetics | Cleft Lip - metabolism | Case-Control Studies | Transcription Factors - metabolism | Cleft Lip - genetics | Animals | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Female | Cleft Palate - metabolism | Mice | Mutation | Zebrafish Proteins - genetics | Kruppel-Like Transcription Factors - genetics | Index Medicus
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