A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

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1. Characterization of hTERT-immortalized osteoblast cell lines generated from wild-type and connexin43-null mouse calvaria
   Mia M. Thi, Marcia M. Urban-Maldonado, David Conover Spray, Sylvia O. Suadicani · 2010 · American Journal of Physiology-Cell Physiology
2. Connexin 43 as a signaling platform for increasing the volume and spatial distribution of regenerated tissue
   Ricardo Antonio Rosselló, Zhuo Wang, Eddy Kizana, Paul H. Krebsbach, David H. Kohn · 2009 · Proceedings of the National Academy of Sciences
3. Semaphorin3d mediates Cx43-dependent phenotypes during fin regeneration
   Quynh V. Ton, M. Kathryn Iovine · 2012 · Developmental Biology
4. Lipopolysaccharide reduces electrical coupling in microvascular endothelial cells by targeting connexin40 in a tyrosine‐, ERK1/2‐, PKA‐, and PKC‐dependent manner
   Michael Louis Bolon, Gerald M. Kidder, Alexander M. Simon, Karel Tyml · 2006 · Journal of Cellular Physiology
5. The V–ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice
   Noelle Ochotny, Ann Marie Flenniken, Celeste Owen, Irina Voronov, Ralph A. Zirngibl, Lucy R. Osborne, Janet E. Henderson, S. Lee Adamson, Janet Rossant, Morris Frank Manolson et al. · 2011 · Journal of Bone and Mineral Research
6. Connexins in skeletal muscle development and disease
   Peter A. Merrifield, Dale W. Laird · 2015 · Seminars in Cell and Developmental Biology
7. Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease
   Anthony G. Cocozzelli, Thomas W. White · 2019 · International Journal of Molecular Sciences
8. Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice
   Radek Dobrowolski, G. Hertig, Hildegard Lechner, Philipp Wörsdörfer, Volker Wulf, Nikolai Dicke, D. Eckert, Reinhard Bauer, Hubert Schorle, Klaus Willecke · 2009 · Human Molecular Genetics
9. Mind the Gaps in Tumor Immunity: Impact of Connexin-Mediated Intercellular Connections
   María Alejandra Gleisner, Mariela Navarrete, Francisca Hofmann-Vega, Flavio Salazar‐Onfray, Andrés Tittarelli · 2017 · Frontiers in Immunology
10. Connexin Mutations and Hereditary Diseases
    Yue Qiu, Jianglin Zheng, Sen Chen, Yu Sun · 2022 · International Journal of Molecular Sciences
11. Connexin 43 Is Necessary for Salivary Gland Branching Morphogenesis and FGF10-induced ERK1/2 Phosphorylation
    Aya Yamada, Masaharu Futagi, Emiko Fukumoto, Kan Saito, Keigo Yoshizaki, Masaki Ishikawa, Makiko Arakaki, Ryoko Hino, Yu Sugawara, Momoko Ishikawa et al. · 2015 · Journal of Biological Chemistry
12. Role of connexins and pannexins during ontogeny, regeneration, and pathologies of bone
    Lilian Irene Plotkin, Dale W. Laird, Joëlle Amédée · 2016 · BMC Cell Biology
13. Milk Secretion and Ejection Are Impaired in the Mammary Gland of Mice Harboring a Cx43 Mutant While Expression and Localization of Tight and Adherens Junction Proteins Remain Unchanged1
    Isabelle Plante, Andrea Wallis, Qing Shao, Dale W. Laird · 2010 · Biology of Reproduction
14. Mutations in cardiovascular connexin genes
    Filippo Molica, Merlijn J. P. M. T. Meens, Sandrine Morel, Brenda Renata Kwak · 2014 · Biology of the Cell
15. The Effect of Mechanical Stimulation on Mineralization in Differentiating Osteoblasts in Collagen-I Scaffolds
    Swathi Damaraju, John Robert Matyas, Derrick E. Rancourt, Neil A. Duncan · 2014 · Tissue Engineering Part A
16. Gap junction intercellular communication: A review of a potential platform to modulate craniofacial tissue engineering
    Ricardo Antonio Rosselló, David H. Kohn · 2008 · Journal of Biomedical Materials Research Part B Applied Biomaterials
17. Depression of Intraocular Pressure Following Inactivation of Connexin43 in the Nonpigmented Epithelium of the Ciliary Body
    Mónica R. Calera, Zhao Wang, Roberto Sánchez‐Olea, David L. Paul, Mortimer M. Civan, Daniel A. Goodenough · 2009 · Investigative Ophthalmology & Visual Science
18. Gap Junction Disorders of Myelinating Cells
    Kleopas A. Kleopa, Jennifer L. Orthmann‐Murphy, Irene Sargiannidou · 2010 · Reviews in the Neurosciences
19. Decidual Angiogenesis and Placental Orientation Are Altered in Mice Heterozygous for a Dominant Loss-of-Function Gja1 (Connexin43) Mutation1
    Elke Winterhager, Alexandra Gellhaus, Sandra M. Blois, Lesley A. Hill, Kevin Barr, Gerald M. Kidder · 2013 · Biology of Reproduction
20. Connexin43 Mutant Patient‐Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential
    Jessica L. Esseltine, Qing Shao, Courtney R. Brooks, Jacinda B. Sampson, Dean Harvey Betts, Cheryle A. Séguin, Dale W. Laird · 2017 · Journal of Bone and Mineral Research
21. Reduction of electrical coupling between microvascular endothelial cells by NO depends on connexin37
    Rebecca L McKinnon, Michael Louis Bolon, Hong-Xing Wang, Scott B. Swarbreck, Gerald M. Kidder, Alexander M. Simon, Karel Tyml · 2009 · American Journal of Physiology-Heart and Circulatory Physiology
22. Autosomal recessiveGJA1(Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms
    Tao Huang, Qing Shao, Andrew MacDonald, Xin Li, Robert Lorentz, Donglin Bai, Dale W. Laird · 2013 · Journal of Cell Science
23. Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia1
    Mary Gregory, Caroline Kahiri, Kevin Barr, Charles E. Smith, Louis Hermo, Daniel G. Cyr, Gerald M. Kidder · 2011 · International Journal of Andrology
24. Novel Mutations in GJA1 Cause Oculodentodigital syndrome
    Aimée L Fenwick, Rebecca J. Richardson, John M. Butterworth, Martin John Barron, Michael James Dixon · 2008 · Journal of Dental Research
25. Role of connexins in human congenital heart disease: the chicken and egg problem
    Aida Salameh, Katja Blanke, Ingo Dähnert · 2013 · Frontiers in Pharmacology
26. Transcription Factor FoxO1 Is Essential for Enamel Biomineralization
    Ross A. Poché, Ramaswamy Sharma, Monica D. Garcia, Aya M. Wada, Mark J. Nolte, Ryan S. Udan, Ji-Hye Paik, Ronald Anthony DePinho, John D. Bartlett, Mary E. Dickinson · 2012 · PLoS ONE
27. Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia
    John Joseph Kelly, Jessica L. Esseltine, Qing Shao, Ethylin Wang Jabs, Jacinda B. Sampson, Mari Auranen, Donglin Bai, Dale W. Laird · 2016 · Molecular Biology of the Cell
28. Connexin 43-Mediated Gap Junction Communication Regulates Ameloblast Differentiation via ERK1/2 Phosphorylation
    Aya Yamada, Keigo Yoshizaki, Masaki Ishikawa, Kan Saito, Yuta Chiba, Emiko Fukumoto, Ryoko Hino, Seira Hoshikawa, Mitsuki Chiba, Takashi Nakamura et al. · 2021 · Frontiers in Physiology
29. The G60S connexin 43 mutation activates the osteoblast lineage and results in a resorption-stimulating bone matrix and abrogation of old-age–related bone loss
    Tanya Zappitelli, Frieda Chen, Luisa Moreno, Ralph A. Zirngibl, Marc D. Grynpas, Janet E. Henderson, Jane E. Aubin · 2013 · Journal of Bone and Mineral Research
30. The “Connexin” Between Bone Cells and Skeletal Functions
    Tanya Zappitelli, Jane E. Aubin · 2014 · Journal of Cellular Biochemistry
31. A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis
    Michael R. Hughes, Nicole M. Anderson, Steven Maltby, Justin Wong, Zorana Berberovic, Connie S. Birkenmeier, D. James Haddon, Kamal Garcha, Ann Marie Flenniken, Lucy R. Osborne et al. · 2010 · Experimental Hematology
32. Physiological roles of connexins and pannexins in reproductive organs
    Mark Kibschull, Alexandra Gellhaus, Diane Carette, Dominique Segretain, Georges Pointis, Jérôme Gilleron · 2015 · Cellular and Molecular Life Sciences
33. Harnessing the therapeutic potential of antibodies targeting connexin hemichannels
    Damiano Buratto, Viola Donati, Francesco Zonta, Fabio Mammano · 2021 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
34. Connective tissue growth factor promotes cell‐to‐cell communication in human periodontal ligament stem cells via MAPK and PI3K pathway
    Zuping Wu, Sirui Chen, Yuying He, Demao Zhang, Shujuan Zou, Jing Xie, Chenchen Zhou · 2021 · Journal of Periodontology
35. Hsp47 mediates Cx43-dependent skeletal growth and patterning in the regenerating fin
    Joyita Bhadra, M. Kathryn Iovine · 2015 · Mechanisms of Development
36. The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants
    Jared M. Churko, Stéphanie Langlois, Xinyue Pan, Qing Shao, Dale W. Laird · 2010 · Biochemical Journal
37. Connexins, gap junctions, and glia
    Christian Giaume, Christian C. G. Naus · 2013 · Wiley Interdisciplinary Reviews Membrane Transport and Signalling
38. The Importance of Connexin 43 in Enamel Development and Mineralization
    Sali Al‐Ansari, Rozita Jalali, Lilian Irene Plotkin, Antonius L.J.J. Bronckers, Pamela DenBesten, Yan Zhang, Judith E. Raber‐Durlacher, Jan de Lange, Frederik Reinder Rozema · 2018 · Frontiers in Physiology
39. Insights into the role of connexins in mammary gland morphogenesis and function
    Michael K G Stewart, Jamie Simek, Dale W. Laird · 2015 · Reproduction
40. Impact of obesity on 7,12-dimethylbenz[a]anthracene-induced altered ovarian connexin gap junction proteins in female mice
    Shanthi Ganesan, Jackson Nteeba, Aileen F. Keating · 2014 · Toxicology and Applied Pharmacology
41. Up-regulation of BMP2/4 signaling increases both osteoblast-specific marker expression and bone marrow adipogenesis inGja1Jrt/+ stromal cell cultures
    Tanya Zappitelli, Frieda Chen, Jane E. Aubin · 2015 · Molecular Biology of the Cell
42. Connexin 43 hemichannels and prostaglandin E2 release in anabolic function of the skeletal tissue to mechanical stimulation
    Dezhi Zhao, Jiawei Wu, Francisca M. Acosta, Huiyun Xu, Jean Xin Jiang · 2023 · Frontiers in Cell and Developmental Biology
43. Cohesin mediates Esco2-dependent transcriptional regulation in zebrafish regenerating fin model of Roberts syndrome
    Rajeswari Banerji, Robert V. Skibbens, M. Kathryn Iovine · 2017 · Biology Open
44. Pannexin 3 regulates skin development via Epiprofin
    Peipei Zhang, Masaki Ishikawa, Andrew D. Doyle, Takashi Nakamura, Bing He, Yoshihiko Yamada · 2021 · Scientific Reports
45. The phytochemical plumbagin reciprocally modulates osteoblasts and osteoclasts
    Avinash M. Yadav, Manali M. Bagade, Soni Ghumnani, Sujatha Raman, Bhaskar Saha, Katharina F. Kubatzky, Richa Ashma · 2021 · Biological Chemistry
46. Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia
    Dan Tong, Deanne Colley, Renee Thoo, Tony Y. Li, Isabelle Plante, Dale W. Laird, Donglin Bai, Gerald M. Kidder · 2009 · Disease Models & Mechanisms
47. Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia
    Michael G. Kozoriz, Simon Lai, José Luis Vega, Juan Carlos Sáez, Wun Chey Sin, John F. Bechberger, Christian C. G. Naus · 2013 · Neuropharmacology
48. The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
    Jared M. Churko, Jason Chan, Qing Shao, Dale W. Laird · 2011 · Journal of Investigative Dermatology
49. Connexin43 modulates post-natal cortical bone modeling and mechano-responsiveness
    Susan K. Grimston, Marcus P. Watkins, Joseph P. Stains, Roberto Civitelli · 2013 · BoneKEy Reports
50. The G 60 S C x43 mutant enhances keratinocyte proliferation and differentiation
    Jared M. Churko, John Joseph Kelly, Andrew MacDonald, Jack Lee, Jacinda B. Sampson, Donglin Bai, Dale W. Laird · 2012 · Experimental Dermatology
51. Advances in the Molecular Genetics of Non-syndromic Syndactyly
    Hao Deng, Ting Tan · 2015 · Current Genomics
52. Congenital heart defects in oculodentodigital dysplasia: Report of two cases
    Kosuke Izumi, Andrew M. Lippa, Alisha Wilkens, Holly A. Feret, Donna M. McDonald‐McGinn, Elaine H. Zackai · 2013 · American Journal of Medical Genetics Part A
53. Dysregulated connexin 43 in HER2-positive drug resistant breast cancer cells enhances proliferation and migration
    Elizabeth Shinmay Yeh, Christina J. Williams, Carly Bess Scalise, Ingrid V. Bonilla, Nancy Klauber‐DeMore, Stephanie L. Phillips · 2017 · Oncotarget
54. If the skull fits: magnetic resonance imaging and microcomputed tomography for combined analysis of brain and skull phenotypes in the mouse
    Brian J. Nieman, Marissa Cathleen Blank, Brian B. Roman, R. Mark Henkelman, Kathleen J. Millen · 2012 · Physiological Genomics
55. Cx43-Dependent Skeletal Phenotypes Are Mediated by Interactions between the Hapln1a-ECM and Sema3d during Fin Regeneration
    Jayalakshmi Govindan, Kyaw Min Tun, M. Kathryn Iovine · 2016 · PLoS ONE
56. Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss
    Julia M. Abitbol, John Joseph Kelly, Kevin Barr, Brian Leonard Allman, Dale W. Laird · 2018 · Journal of Cell Science
57. A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation
    Momoko Himi, Takuro Fujimaki, Toshiyuki Yokoyama, Keiko Fujiki, Toshiaki Takizawa, Akira Murakami · 2009 · Japanese Journal of Ophthalmology
58. CONNEXIN 43 AND BONE: NOT JUST A GAP JUNCTION PROTEIN.
    Lilian Irene Plotkin · 2011 · Actualizaciones en osteología
59. Characterization of Gap Junction Proteins in the Bladder of Cx43 Mutant Mouse Models of Oculodentodigital Dysplasia
    R. Lorentz, Q. Shao, Tao Huang, Glenn I. Fishman, Dale W. Laird · 2012 · The Journal of Membrane Biology
60. Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature
    Elifcan Taşdelen, Ceren Damla Durmaz, Halil Gürhan Karabulut · 2018 · Cytogenetic and Genome Research
61. Cleft Lip in Oculodentodigital Dysplasia Suggests Novel Roles for Connexin43
    Katsuhiko Amano, Mitsuko Ishiguchi, Tomonao Aikawa, Masaaki Kimata, Naoko Kishi, T. Fujimaki, Akiko Murakami, Mikihiko Kogo · 2012 · Journal of Dental Research
62. Determining how defects in connexin43 cause skeletal disease
    Quynh V. Ton, M. Kathryn Iovine · 2012 · genesis
63. Connexin43 Modulation of Osteoblast/Osteocyte Apoptosis: A Potential Therapeutic Target?
    Roberto Civitelli · 2008 · Journal of Bone and Mineral Research
64. Developmental regulation of cardiovascular function is dependent on both genotype and environment
    Brian S. Knight, Nana Sunn, Craig Edward Pennell, S. Lee Adamson, Stephen James Lye · 2009 · American Journal of Physiology-Heart and Circulatory Physiology
65. Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients
    Jessica L. Esseltine, Qing Shao, Tao Huang, John Joseph Kelly, Jacinda B. Sampson, Dale W. Laird · 2015 · Biochemical Journal
66. Osterix plays a critical role in BMP4-induced promoter activity of connexin43
    Younho Han, Dong Hyeok Cho, Dong Jin Chung, Kwang Youl Lee · 2016 · Biochemical and Biophysical Research Communications
67. Ocular Pathology Relevant to Glaucoma in a Gja1 Jrt /+ Mouse Model of Human Oculodentodigital Dysplasia
    Edmund Yik Kong Tsui, Kathleen Allen Hill, Alex M. Laliberté, Daniel Paluzzi, Ilia Kisilevsky, Qing Shao, J. Godfrey Heathcote, Dale W. Laird, Gerald M. Kidder, Cindy M. L. Hutnik · 2011 · Investigative Ophthalmology & Visual Science
68. Myogenic bladder defects in mouse models of human oculodentodigital dysplasia
    Tao Huang, Qing Shao, Kevin Barr, Jamie Simek, Glenn I. Fishman, Dale W. Laird · 2013 · Biochemical Journal
69. Cisplatin-induced ototoxicity in organotypic cochlear cultures occurs independent of gap junctional intercellular communication
    Julia M. Abitbol, Rianne Beach, Kevin Barr, Jessica L. Esseltine, Brian Leonard Allman, Dale W. Laird · 2020 · Cell Death and Disease
70. Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants
    Donglin Bai, Jiayi Wang, Tianhe Li, Ryan Chan, Mena Atalla, Robert C. Chen, Mohammad T. Khazaneh, Raphael J. An, Peter B. Stathopulos · 2021 · International Journal of Molecular Sciences
71. Connexin mutant embryonic stem cells and human diseases
    Kiyomasa Nishii · 2014 · World Journal of Stem Cells
72. Effect of endothelin-1 on osteoblastic differentiation is modified by the level of connexin43: comparative study on calvarial osteoblastic cells isolated from Cx43+/−and Cx43+/+ mice
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73. Connexins in the Nervous System
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74. Skeletal Phenotyping in Rodents: Tissue Isolation and Manipulation
    Janet E. Henderson, Chan Gao, Edward Joseph Harvey · 2011 · Springer eBooks
75. Gap Junctions and Biophysical Regulation of Bone Cells
    Shane A. J. Lloyd, Henry J. Donahue · 2010 · Clinical Reviews in Bone and Mineral Metabolism
76. Effects of reduced connexin43 function on skull development in the Cx43I130T/+ mutant mouse that models oculodentodigital dysplasia
    Sommer G.E. Jarvis, Jae Eun Lee, Elizabeth Jewlal, Kevin Barr, Gregory Mitchell Kelly, Dale W. Laird, Katherine Elizabeth Willmore · 2020 · Bone
77. Intercellular Junctions and Cell–Cell Communication in the Skeletal System
    Roberto Civitelli, Joseph P. Stains, Chan Soo Shin, Niklas Rye Jørgensen · 2008 · Elsevier eBooks
78. Cytopenia induction by 5-fluorouracil identifies thrombopoietic mutants in sensitized ENU mutagenesis screens
    Nicole M. Anderson, Zorana Berberovic, Elizabeth S. L. Berndl, Monica L. Bailey, Ann Marie Flenniken, Lucy R. Osborne, S. Lee Adamson, Janet Rossant, Chen Wang, Mark David Minden et al. · 2011 · Experimental Hematology
79. Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction
    Mathilde C. S. C. Vermeer, Daniela Andrei, Luisa Marsili, J. Peter van Tintelen, Herman H.W. Silljé, Maarten P. van den Berg, Peter van der Meer, Maria C. Bolling · 2022 · International Journal of Molecular Sciences
80. Connexins
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81. An Ectopic Stromal Implant Model for Hematopoietic Reconstitution and in Vivo Evaluation of Bone Marrow Niches
    Flávio Henrique Paraguassú-Braga, Ana Paula Gregório Alves Fontão, Isabella Santos, Martín Bonamino, Adriana Cesar Bonomo · 2012 · Cell Transplantation
82. A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes
    Sameh K. Wasseff, Charles K. Abrams, Steven S. Scherer · 2010 · Neuron Glia Biology
83. Polymorphisms in GJA1 and their association with growth traits in chicken
    M. Shahjahan, Ruofan Liu, Guiping Zhao, J.J. Zhang, Maiqing Zheng, Q.H. Li, Jie Wen · 2015 · Genetics and Molecular Research
84. The Effects of Fluoride on the Gap-Junctional Intercellular Communication of Rats’ Osteoblast
    Jinming Wang, Yanyan Li, Yanyan Li, Yangfei Zhao, Ram Kumar Manthari, Jundong Wang · 2019 · Biological Trace Element Research
85. Connexins in the Heart
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86. Intercellular junctions and cell–cell communication in the skeletal system
    Joseph P. Stains, Francesca Fontana, Roberto Civitelli · 2019 · Elsevier eBooks
87. Correlation of 2D:4D digit ratio and craniofacial shape in prepubertal children
    Kalliopy Valla, Demetrios J. Halazonetis · 2014 · American Journal of Human Biology
88. Connexin expression by human granulosa cell tumors: Identification of connexin 32 as a tumor signature
    Catherina Lücke, Silvana Siebert, Doris Cooper Mayr, Artur Mayerhofer · 2011 · Cancer Biomarkers
89. Effects of Reduced Connexin43 Function on Mandibular Morphology and Osteogenesis in Mutant Mouse Models of Oculodentodigital Dysplasia
    Alyssa C. Moore, Jessica Wu, Elizabeth Jewlal, Kevin Barr, Dale W. Laird, Katherine Elizabeth Willmore · 2020 · Calcified Tissue International
90. Cohesin: an emerging master regulator at the heart of cardiac development
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91. Immunohistochemistry and Female Reproductive Toxicology: The Ovary and Mammary Glands
    Daniel G. Cyr, Patrick J. Devine, Isabelle Plante · 2015 · Springer eBooks
92. A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms
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93. Genetic factors underlying Mandibular prognathism: insights from recent human and animal studies
    Han Fang, Peiran Li, Songsong Zhu, Ruiye Bi · 2024 · Mammalian Genome
94. Connexin 43 contributes to phenotypic robustness of the mouse skull
    Elizabeth Jewlal, Kevin Barr, Dale W. Laird, Katherine Elizabeth Willmore · 2021 · Developmental Dynamics
95. Connexins in the Female Reproductive System
    Gerald M. Kidder, Elke Winterhager · 2008 · Humana Press eBooks
96. KMT2D Regulates Tooth Enamel Development
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97. Fisiología del tejido óseo
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98. Connexins in Skeletal Biology
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99. Connexin Mutations in Pelizaeus–Merzbacher-Like Disease, Oculodentodigital Dysplasia and Related Diseases
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100. Discordant growth of nasal cartilage and bone contributes to phenotypic variability of the skull in a mouse model
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