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Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders.
Jones C, Baldrighi C, Mills J, Bush P, Ezaki M, Oishi S. Jones C, et al. J Hand Surg Am. 2011 Nov;36(11):1816-21. doi: 10.1016/j.jhsa.2011.08.026. J Hand Surg Am. 2011. PMID: 22036282
PURPOSE: Hand surgeons are often the first specialists to see patients with oculodentodigital dysplasia (ODDD), when infants with ulnar-sided syndactyly are referred. ...RESULTS: A total of 73 pediatric patients from 47 families were diagnosed with ODDD, and 38 indi …
PURPOSE: Hand surgeons are often the first specialists to see patients with oculodentodigital dysplasia (ODDD), when infants w …
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW. Paznekas WA, et al. Hum Mutat. 2009 May;30(5):724-33. doi: 10.1002/humu.20958. Hum Mutat. 2009. PMID: 19338053 Review.
The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. ...
The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfam …
Gap junctions and hemichannels in signal transmission, function and development of bone.
Batra N, Kar R, Jiang JX. Batra N, et al. Biochim Biophys Acta. 2012 Aug;1818(8):1909-18. doi: 10.1016/j.bbamem.2011.09.018. Epub 2011 Sep 22. Biochim Biophys Acta. 2012. PMID: 21963408 Free PMC article. Review.
The biological importance of the communication mediated by connexin-forming channels in bone development is revealed by the low bone mass and osteoblast dysfunction in the Cx43-null mice and the skeletal malformations observed in occulodentodigital dysplasia (ODDD) caused …
The biological importance of the communication mediated by connexin-forming channels in bone development is revealed by the low bone mass an …
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.
Gabriel LA, Sachdeva R, Marcotty A, Rockwood EJ, Traboulsi EI. Gabriel LA, et al. Arch Ophthalmol. 2011 Jun;129(6):781-4. doi: 10.1001/archophthalmol.2011.113. Arch Ophthalmol. 2011. PMID: 21670345
OBJECTIVES: To describe new ocular findings associated with oculodentodigital dysplasia (ODDD) and a novel mutation in the connexin 43 transmembrane domain. DESIGN: Oculodentodigital dysplasia is a rare autosomal dominant disease characterized by multi …
OBJECTIVES: To describe new ocular findings associated with oculodentodigital dysplasia (ODDD) and a novel mutation in the con …
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
Shao Q, Liu Q, Lorentz R, Gong XQ, Bai D, Shaw GS, Laird DW. Shao Q, et al. Mol Biol Cell. 2012 Sep;23(17):3312-21. doi: 10.1091/mbc.E12-02-0128. Epub 2012 Jul 18. Mol Biol Cell. 2012. PMID: 22809623 Free PMC article.
Mutations in the gene encoding connexin-43 (Cx43) cause the human development disorder known as oculodentodigital dysplasia (ODDD). In this study, ODDD-linked Cx43 N-terminal mutants formed nonfunctional gap junction-like plaques and exhibited dominant-negative effe …
Mutations in the gene encoding connexin-43 (Cx43) cause the human development disorder known as oculodentodigital dysplasia (O …
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
Kelly JJ, Esseltine JL, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW. Kelly JJ, et al. Mol Biol Cell. 2016 Jul 15;27(14):2172-85. doi: 10.1091/mbc.E16-01-0062. Epub 2016 May 25. Mol Biol Cell. 2016. PMID: 27226478 Free PMC article.
Oculodentodigital dysplasia (ODDD) is a rare genetic disease that affects the development of multiple organs in the human body. ...Together these findings enabled us to discover mutation-specific pathologies that may help to predict future clinical outcomes.. …
Oculodentodigital dysplasia (ODDD) is a rare genetic disease that affects the development of multiple organs in the human body …
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia.
Gregory M, Kahiri CN, Barr KJ, Smith CE, Hermo L, Cyr DG, Kidder GM. Gregory M, et al. Int J Androl. 2011 Dec;34(6 Pt 2):e630-41. doi: 10.1111/j.1365-2605.2011.01224.x. Epub 2011 Oct 18. Int J Androl. 2011. PMID: 22004529
Oculodentodigital dysplasia (ODDD) is a dysmorphogenesis syndrome resulting from mutations in the GJA1 gene encoding the gap junction protein, connexin43 (CX43). ...Analyses of cauda epididymal sperm indicated significant decreases in sperm count and sperm velocity …
Oculodentodigital dysplasia (ODDD) is a dysmorphogenesis syndrome resulting from mutations in the GJA1 gene encoding the gap j …
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.
Dobrowolski R, Sasse P, Schrickel JW, Watkins M, Kim JS, Rackauskas M, Troatz C, Ghanem A, Tiemann K, Degen J, Bukauskas FF, Civitelli R, Lewalter T, Fleischmann BK, Willecke K. Dobrowolski R, et al. Hum Mol Genet. 2008 Feb 15;17(4):539-54. doi: 10.1093/hmg/ddm329. Epub 2007 Nov 13. Hum Mol Genet. 2008. PMID: 18003637 Free PMC article.
Oculodentodigital dysplasia (ODDD) is a dominant negatively inherited disorder with variable but characteristic anomalies of the fingers and toes, eyes, face and teeth, which are caused by mutations in the connexin 43 (Cx43) gene. ...In this study, we inserted the h …
Oculodentodigital dysplasia (ODDD) is a dominant negatively inherited disorder with variable but characteristic anomalies of t …
Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.
Machado RA, Júnior HM, Ferreira SBP, Leão LL, Coletta RD, Aguiar MJB. Machado RA, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2023 Jan;135(1):96-100. doi: 10.1016/j.oooo.2022.09.037. Epub 2022 Sep 29. Oral Surg Oral Med Oral Pathol Oral Radiol. 2023. PMID: 36396593
Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in GJA1 (gap junction alpha-1) gene and inherited in an autosomal dominant pattern. ...Toget …
Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocula …
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia.
Churko JM, Chan J, Shao Q, Laird DW. Churko JM, et al. J Invest Dermatol. 2011 Nov;131(11):2197-204. doi: 10.1038/jid.2011.183. Epub 2011 Jun 30. J Invest Dermatol. 2011. PMID: 21716323 Free article.
Patients expressing mutations in the gene encoding the gap junction protein Cx43 suffer from a disease called oculodentodigital dysplasia (ODDD). Patients with ODDD are often reported to develop hair that is dry, dull, sparse, and slow growing. To evaluate the linka …
Patients expressing mutations in the gene encoding the gap junction protein Cx43 suffer from a disease called oculodentodigital dy …
25 results