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2018 1
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2022 1
2023 2
2024 0

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Page 1
Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
Turan S. Turan S. Bone. 2023 Feb;167:116615. doi: 10.1016/j.bone.2022.116615. Epub 2022 Nov 17. Bone. 2023. PMID: 36402365
Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DSS phenotype is important for predicting complications, prognosis, and instituting appropriate health surveillance and treatmen …
Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DS …
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK. Dulski J, et al. Orphanet J Rare Dis. 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. Orphanet J Rare Dis. 2023. PMID: 37349768 Free PMC article. Review.
A single brain autopsy evidenced multiple brain anomalies, absence of corpus callosum, absence of microglia, severe white matter atrophy with axonal spheroids, gliosis, and numerous dystrophic calcifications.In conclusion, BANDDOS presents in the perinatal period or infancy and h …
A single brain autopsy evidenced multiple brain anomalies, absence of corpus callosum, absence of microglia, severe white matter atrophy wit …
Dysosteosclerosis is also caused by TNFRSF11A mutation.
Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S. Guo L, et al. J Hum Genet. 2018 Jun;63(6):769-774. doi: 10.1038/s10038-018-0447-6. Epub 2018 Mar 22. J Hum Genet. 2018. PMID: 29568001
Exon trapping assay indicated the mutation caused skipping of exon 6, which was predicted to induce a frame-shift and an early termination codon in all known alternative transcript variants of TNFRSF11A. The predicted effect of the mutation for the isoforms was diff …
Exon trapping assay indicated the mutation caused skipping of exon 6, which was predicted to induce a frame-shift and an early termin …
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.
Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L. Xue JY, et al. J Bone Miner Res. 2019 Oct;34(10):1873-1879. doi: 10.1002/jbmr.3805. Epub 2019 Aug 5. J Bone Miner Res. 2019. PMID: 31163101 Free article.
The homozygous variant was a G to T transversion at the first nucleotide of exon 9 (c.784G>T). Although the variant was predicted to cause a stop codon mutation (p.E262*), in silico evaluation of the exonic splicing elements followed by RT-PCR for the patient-derived ce …
The homozygous variant was a G to T transversion at the first nucleotide of exon 9 (c.784G>T). Although the variant was predicted …