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Page 1
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists. Prognosis of ACFS is poor....
Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other special …
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
Yang X, Lin X, Zhu Y, Luo J, Lin G. Yang X, et al. Mol Med Rep. 2018 Jun;17(6):7553-7558. doi: 10.3892/mmr.2018.8838. Epub 2018 Mar 29. Mol Med Rep. 2018. PMID: 29620206 Free PMC article.
The father was diagnosed with SHFM and harbored a CGG-to-CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding site and dimerization site of TP63. The R243Q mutation was predicted to be pathogenic by PolyPhen-2. The proband, who was diagnosed with …
The father was diagnosed with SHFM and harbored a CGG-to-CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding sit …
DSS1 promoter hypomethylation and overexpression predict poor prognosis in melanoma and squamous cell carcinoma patients.
Venza M, Visalli M, Catalano T, Beninati C, Teti D, Venza I. Venza M, et al. Hum Pathol. 2017 Feb;60:137-146. doi: 10.1016/j.humpath.2016.10.018. Epub 2016 Nov 4. Hum Pathol. 2017. PMID: 27825810
In summary, these data suggest that the extent of promoter methylation plays a role in modulating DSS1 gene expression and highlight that promoter hypomethylation is a frequent event in melanoma and SCC closely linked to poor prognosis....
In summary, these data suggest that the extent of promoter methylation plays a role in modulating DSS1 gene expression and highlight that pr …
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P. Ianakiev P, et al. Am J Hum Genet. 2000 Jul;67(1):59-66. doi: 10.1086/302972. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839977 Free PMC article.
Results of gene-targeting studies have demonstrated that p63, a homologue of the cell-cycle regulator TP53, plays a critically important role in regulation of the formation and differentiation of the AER. Two missense mutations, 724A-->G, which predicts amino acid subst …
Results of gene-targeting studies have demonstrated that p63, a homologue of the cell-cycle regulator TP53, plays a critically important rol …
Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation.
Kantaputra PN, Matangkasombut O, Sripathomsawat W. Kantaputra PN, et al. Am J Med Genet A. 2012 Jan;158A(1):188-92. doi: 10.1002/ajmg.a.34356. Epub 2011 Nov 7. Am J Med Genet A. 2012. PMID: 22065540
Mutation analysis showed a c.588-2A > C mutation in TP63 in the mother and her son. It is predicted that an alternative splice site was used, specifically the AG located just three nucleotides upstream. Use of this site is predicted to include three extra nucleot …
Mutation analysis showed a c.588-2A > C mutation in TP63 in the mother and her son. It is predicted that an alternative splice sit …
Carcinogenesis caused by transcription-coupled DNA damage through GANP and other components of the TREX-2 complex.
Sakai Y, Kuwahara K. Sakai Y, et al. Pathol Int. 2024 Mar;74(3):103-118. doi: 10.1111/pin.13415. Epub 2024 Feb 27. Pathol Int. 2024. PMID: 38411330 Review.
Finally, we illustrate that the aberrant expression of the components of the TREX-2 complex, especially GANP, is associated with the etiology of various solid tumors, lymphomas, and testicular teratoma. These components serve as reliable predictors of cancer prognosis …
Finally, we illustrate that the aberrant expression of the components of the TREX-2 complex, especially GANP, is associated with the etiolog …
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC. Crackower MA, et al. Hum Mol Genet. 1996 May;5(5):571-9. doi: 10.1093/hmg/5.5.571. Hum Mol Genet. 1996. PMID: 8733122
Three genes were identified, two genes of the Distal-less (dii) homeobox gene family, DLX5 and DLX6 and a novel gene, which we named DSS1. DSS1 is predicted to encode a highly acidic polypeptide with no significant similarity to any known proteins but 100% amino acid seque …
Three genes were identified, two genes of the Distal-less (dii) homeobox gene family, DLX5 and DLX6 and a novel gene, which we named DSS1. D …
Split-hand/split-foot malformation with paternal mutation in the p63 gene.
Witters I, Van Bokhoven H, Goossens A, Van Assche FA, Fryns JP. Witters I, et al. Prenat Diagn. 2001 Dec;21(13):1119-22. doi: 10.1002/pd.181. Prenat Diagn. 2001. PMID: 11787035
Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A-->G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A-->G (predicting am …
Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A-->G (predicting amino acid substitution K193E …
A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism.
Luo T, Yu W, Yuan Z, Deng Y, Zhao Y, Yuan W, Xiao J, Wang Y, Luo N, Mo X, Li Y, Liu M, Wu X. Luo T, et al. Mutat Res. 2008 Jan 1;637(1-2):182-9. doi: 10.1016/j.mrfmmm.2007.08.010. Epub 2007 Aug 26. Mutat Res. 2008. PMID: 17915261
In this study, we report on a Chinese family with intrafamilial clinical variability of SHFM that have a novel heterozygous mutation in all four affected individuals. The mutation is in exon 8 of p63, 1046G --> A, which predicts an amino acid substitution G310E. SSCP an …
In this study, we report on a Chinese family with intrafamilial clinical variability of SHFM that have a novel heterozygous mutation in all …
11 results