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Page 1
Human facial dysostoses.
Wieczorek D. Wieczorek D. Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Clin Genet. 2013. PMID: 23565775 Review.
Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD subgroups. ...
Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD …
Mitochondrial nucleic acid binding proteins associated with diseases.
Uchiumi T, Kang D. Uchiumi T, et al. Front Biosci (Landmark Ed). 2017 Jan 1;22(1):168-179. doi: 10.2741/4479. Front Biosci (Landmark Ed). 2017. PMID: 27814609 Free article. Review.
We then discuss how mitochondrial dysfunction is related to several diseases, including mitochondrial respiratory disease, Miller syndrome and cancer. We also describe p32 knockout mice, which are embryonic lethal and exhibit respiratory chain defects. Miller …
We then discuss how mitochondrial dysfunction is related to several diseases, including mitochondrial respiratory disease, Miller …
Facial dysostoses: Etiology, pathogenesis and management.
Trainor PA, Andrews BT. Trainor PA, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283-94. doi: 10.1002/ajmg.c.31375. Epub 2013 Oct 4. Am J Med Genet C Semin Med Genet. 2013. PMID: 24123981 Free PMC article. Review.
Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.
Orozco Rodriguez JM, Krupinska E, Wacklin-Knecht H, Knecht W. Orozco Rodriguez JM, et al. Nucleosides Nucleotides Nucleic Acids. 2022;41(12):1318-1336. doi: 10.1080/15257770.2021.2023749. Epub 2022 Jan 30. Nucleosides Nucleotides Nucleic Acids. 2022. PMID: 35094635 Review.
Miller syndrome is a rare Mendelian disorder caused by mutations in the gene encoding human dihydroorotate dehydrogenase (DHODH). ...Here we present a summary of the state of knowledge regarding Miller syndrome in the absence of any current review on t …
Miller syndrome is a rare Mendelian disorder caused by mutations in the gene encoding human dihydroorotate dehydrogenase (DHOD …
Nucleotide stress responses in neural crest cell fate and melanoma.
Sporrij A, Zon LI. Sporrij A, et al. Cell Cycle. 2021 Aug;20(15):1455-1467. doi: 10.1080/15384101.2021.1947567. Epub 2021 Jul 19. Cell Cycle. 2021. PMID: 34281491 Free PMC article. Review.
Mutations in the pyrimidine biosynthesis enzyme dihydroorotate dehydrogenase (DHODH) particularly affect neural crest-derived tissues and cause Miller syndrome, a genetic disorder characterized by craniofacial malformations in patients. ...
Mutations in the pyrimidine biosynthesis enzyme dihydroorotate dehydrogenase (DHODH) particularly affect neural crest-derived tissues and ca …
Revisiting Mendelian disorders through exome sequencing.
Ku CS, Naidoo N, Pawitan Y. Ku CS, et al. Hum Genet. 2011 Apr;129(4):351-70. doi: 10.1007/s00439-011-0964-2. Epub 2011 Feb 18. Hum Genet. 2011. PMID: 21331778 Review.
Exome sequencing has been swiftly applied to the discovery of new causal variants and candidate genes for a number of Mendelian disorders such as Kabuki syndrome, Miller syndrome and Fowler syndrome. In addition, de novo variants were also identified for sporadic ca …
Exome sequencing has been swiftly applied to the discovery of new causal variants and candidate genes for a number of Mendelian disorders su …
Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis.
Löffler M, Carrey EA, Zameitat E. Löffler M, et al. J Genet Genomics. 2015 May 20;42(5):207-19. doi: 10.1016/j.jgg.2015.04.001. Epub 2015 Apr 18. J Genet Genomics. 2015. PMID: 26059769 Review.
We address the development of orotate derivatives for application as anti-pyrimidine drugs, and of complexes with metal ions and organic cations to assist therapies of metabolic syndromes. Recent genetic data link human Miller syndrome to defects in the dihydroorota …
We address the development of orotate derivatives for application as anti-pyrimidine drugs, and of complexes with metal ions and organic cat …
Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.
Preis S, Raymaekers-Buntinx I, Majewski F. Preis S, et al. Am J Med Genet. 1995 Mar 27;56(2):155-60. doi: 10.1002/ajmg.1320560208. Am J Med Genet. 1995. PMID: 7625437 Review.
The Nager syndrome is characterized by preaxial limb defects, whereas the Genee-Wiedemann syndrome (= Miller syndrome) by postaxial limb defects. ...
The Nager syndrome is characterized by preaxial limb defects, whereas the Genee-Wiedemann syndrome (= Miller …
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M. Opitz JM, et al. Am J Med Genet. 1993 Oct 1;47(5):660-78. doi: 10.1002/ajmg.1320470517. Am J Med Genet. 1993. PMID: 8266994 Review.
The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well-documented autosomal dominant and rec …
The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or …
Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
Vigneron J, Stricker M, Vert P, Rousselot JM, Levy M. Vigneron J, et al. J Med Genet. 1991 Sep;28(9):636-8. doi: 10.1136/jmg.28.9.636. J Med Genet. 1991. PMID: 1683410 Free PMC article. Review.
We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. ...
We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysosto …