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A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.
Sezer A, Perçin FE, Kazan HH, Kayhan G, Akturk M. Sezer A, et al. Am J Med Genet A. 2022 Jun;188(6):1890-1895. doi: 10.1002/ajmg.a.62713. Epub 2022 Mar 6. Am J Med Genet A. 2022. PMID: 35253374
Whole-exome sequencing revealed a de novo heterozygous c.881T>G (p.Met294Arg) variant in HOXA11 (NM_005523.6) gene. The variant was located in the homeodomain of HOXA11 and predicted to alter DNA-binding ability of the protein. In silico analyses indicated that the vari …
Whole-exome sequencing revealed a de novo heterozygous c.881T>G (p.Met294Arg) variant in HOXA11 (NM_005523.6) gene. The variant was locat …
Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning.
Yoshizawa T, Handa Y, Uematsu Y, Takeda S, Sekine K, Yoshihara Y, Kawakami T, Arioka K, Sato H, Uchiyama Y, Masushige S, Fukamizu A, Matsumoto T, Kato S. Yoshizawa T, et al. Nat Genet. 1997 Aug;16(4):391-6. doi: 10.1038/ng0897-391. Nat Genet. 1997. PMID: 9241280
However, the molecular basis for the actions of 1 alpha,25(OH)2D3 in bone formation, its role during development and VDR genetic polymorphisms for predicting bone mineral density are uncertain. To investigate the functional role of VDR, we generated mice deficient in VDR b …
However, the molecular basis for the actions of 1 alpha,25(OH)2D3 in bone formation, its role during development and VDR genetic polymorphis …