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Links from Protein

Items: 6

1.
Identification of RUNX2 variants associated with cleidocranial dysplasia
Xueren Gao, Kunxia Li, Yanjie Fan, Yu Sun, Xiaomei Luo, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Yu Wang, Xuefan Gu, Yongguo Yu
Hereditas. 2019; 156: 31. Published online 2019 Sep 16. doi: 10.1186/s41065-019-0107-7
PMCID:
PMC6747736
AbstractArticlePDF–1.3M
2.
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.
G J Feldman, N H Robin, L A Brueton, E Robertson, E M Thompson, J Siegel-Bartelt, D L Gasser, L C Bailey, E H Zackai, M Muenke
Am J Hum Genet. 1995 Apr; 56(4): 938–943.
PMCID:
PMC1801197
SummaryPage BrowsePDF–1.4M
3.
PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene.
E Ogawa, M Maruyama, H Kagoshima, M Inuzuka, J Lu, M Satake, K Shigesada, Y Ito
Proc Natl Acad Sci U S A. 1993 Jul 15; 90(14): 6859–6863. doi: 10.1073/pnas.90.14.6859
PMCID:
PMC47032
SummaryPage BrowsePDF–1.5M
4.
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
Tychele N. Turner, Christopher Douville, Dewey Kim, Peter D. Stenson, David N. Cooper, Aravinda Chakravarti, Rachel Karchin
Hum Mol Genet. 2015 Nov 1; 24(21): 5995–6002. Published online 2015 Aug 5. doi: 10.1093/hmg/ddv309
PMCID:
PMC6354780
AbstractArticlePDF–444K
5.
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review
Dan Ma, Xuxia Wang, Jun Guo, Jun Zhang, Tao Cai
Medicine (Baltimore) 2018 Aug; 97(32): e11328. Published online 2018 Aug 10. doi: 10.1097/MD.0000000000011328
PMCID:
PMC6133463
AbstractArticlePDF–775K
6.
Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia
Ewa Hordyjewska, Anna Jaruga, Grzegorz Kandzierski, Przemko Tylzanowski
Mol Syndromol. 2017 Aug; 8(5): 253–260. Published online 2017 Jun 15. doi: 10.1159/000477307
PMCID:
PMC5582518
AbstractArticlePDF–601K

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