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Clefting syndromes.
Drew SJ. Drew SJ. Atlas Oral Maxillofac Surg Clin North Am. 2014 Sep;22(2):175-81. doi: 10.1016/j.cxom.2014.05.001. Atlas Oral Maxillofac Surg Clin North Am. 2014. PMID: 25171998 Review. No abstract available.
Toward an orofacial gene regulatory network.
Kousa YA, Schutte BC. Kousa YA, et al. Dev Dyn. 2016 Mar;245(3):220-32. doi: 10.1002/dvdy.24341. Epub 2015 Sep 17. Dev Dyn. 2016. PMID: 26332872 Free PMC article. Review.
Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live birt …
Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft …
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A. Alade AA, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1355. doi: 10.1002/mgg3.1355. Epub 2020 Jun 17. Mol Genet Genomic Med. 2020. PMID: 32558391 Free PMC article. Review.
Derangement in these well-organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. ...The current study was desi …
Derangement in these well-organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS …
Grainyhead-like Transcription Factors in Craniofacial Development.
Carpinelli MR, de Vries ME, Jane SM, Dworkin S. Carpinelli MR, et al. J Dent Res. 2017 Oct;96(11):1200-1209. doi: 10.1177/0022034517719264. Epub 2017 Jul 11. J Dent Res. 2017. PMID: 28697314 Review.
The antecedent member of this family, Drosophila grainyhead ( grh), is required for head skeleton development in fruit flies, loss or mutation of Grhl family members in mouse and zebrafish models leads to defects of both maxilla and mandible, and recently, mutations in human GRHL …
The antecedent member of this family, Drosophila grainyhead ( grh), is required for head skeleton development in fruit flies, loss or mutati …
Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case.
Angiero F, Farronato D, Ferrante F, Paglia M, Crippa R, Rufino L, Trevisiol A, Mazzola RF, Blasi S. Angiero F, et al. Eur J Paediatr Dent. 2018 Mar;19(1):70-73. doi: 10.23804/ejpd.2018.19.01.13. Eur J Paediatr Dent. 2018. PMID: 29569458 Review.
BACKGROUND: Van der Woude syndrome (VWS), an autosomal dominant condition associated with lower lip pits and/or cleft palate, is caused by mutations in the interferon regulatory factor 6 gene (lRF6 gene). ...With frequency ranging from 1:35,000 to 1:10 …
BACKGROUND: Van der Woude syndrome (VWS), an autosomal dominant condition associated with lower lip pits and/or …
Genetics of syndromic and nonsyndromic cleft lip and palate.
Stuppia L, Capogreco M, Marzo G, La Rovere D, Antonucci I, Gatta V, Palka G, Mortellaro C, Tetè S. Stuppia L, et al. J Craniofac Surg. 2011 Sep;22(5):1722-6. doi: 10.1097/SCS.0b013e31822e5e4d. J Craniofac Surg. 2011. PMID: 21959420 Review.
Syndromic forms are in many cases due to chromosomal aberrations or monogenic diseases. Among these, the Van der Woude syndrome, caused by mutation of the IRF6 gene, represents the commonest form of syndromic CL/P, accounting for about 2% of all …
Syndromic forms are in many cases due to chromosomal aberrations or monogenic diseases. Among these, the Van der Woude …
3rd European Evidence-based Consensus on the Diagnosis and Management of Crohn's Disease 2016: Part 2: Surgical Management and Special Situations.
Gionchetti P, Dignass A, Danese S, Magro Dias FJ, Rogler G, Lakatos PL, Adamina M, Ardizzone S, Buskens CJ, Sebastian S, Laureti S, Sampietro GM, Vucelic B, van der Woude CJ, Barreiro-de Acosta M, Maaser C, Portela F, Vavricka SR, Gomollón F; ECCO. Gionchetti P, et al. J Crohns Colitis. 2017 Feb;11(2):135-149. doi: 10.1093/ecco-jcc/jjw169. Epub 2016 Sep 22. J Crohns Colitis. 2017. PMID: 27660342
The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.
Askarian S, Gholami M, Khalili-Tanha G, Tehrani NC, Joudi M, Khazaei M, Ferns GA, Hassanian SM, Avan A, Joodi M. Askarian S, et al. Oral Maxillofac Surg. 2023 Jun;27(2):177-186. doi: 10.1007/s10006-022-01052-3. Epub 2022 Apr 15. Oral Maxillofac Surg. 2023. PMID: 35426585 Review.
There is a growing body of data illustrating the association of several genes with risk of developing this malformation, including genetic defects in T-box transcription factor-22 (TBX22), interferon regulatory factor-6 (IRF6), and poliovirus receptor-like-1 (PVRL1), responsible …
There is a growing body of data illustrating the association of several genes with risk of developing this malformation, including genetic d …
Introduction to genetics for otorhinolaryngology nurses.
Malone KJ, Cook SS. Malone KJ, et al. ORL Head Neck Nurs. 2006 Spring;24(2):8-18. ORL Head Neck Nurs. 2006. PMID: 16696290 Review.
This article presents information about basic inheritance patterns (autosomal dominant and recessive, X-linked, and mitochondrial) and compares single-gene disorders to complex or mutifactorial diseases. Cleft lip and palate disorders (Robin sequence and Van der …
This article presents information about basic inheritance patterns (autosomal dominant and recessive, X-linked, and mitochondrial) and compa …