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Page 1
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
Currently, urinary and blood KS and C6S, the enzyme activity of GALNS, and GALNS molecular analysis are used for diagnosis and prognosis of clinical phenotype in MPS IVA. MPS IVA can be diagnosed with unique characters although this disorder relates closely to other disord …
Currently, urinary and blood KS and C6S, the enzyme activity of GALNS, and GALNS molecular analysis are used for diagnosis and prognosis …
Growth impairment in mucopolysaccharidoses.
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S. Melbouci M, et al. Mol Genet Metab. 2018 May;124(1):1-10. doi: 10.1016/j.ymgme.2018.03.004. Epub 2018 Mar 16. Mol Genet Metab. 2018. PMID: 29627275 Free PMC article. Review.
The timing, the degree, and the difference in growth impairment of each MPS are highlighted to understand the natural course of growth and to evaluate future therapeutic efficacy....
The timing, the degree, and the difference in growth impairment of each MPS are highlighted to understand the natural course of growt …
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 …
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Ain NU, Fatima Z, Naz S, Makitie O. Ain NU, et al. BMC Musculoskelet Disord. 2021 Jul 20;22(1):630. doi: 10.1186/s12891-021-04503-2. BMC Musculoskelet Disord. 2021. PMID: 34284742 Free PMC article.
Whole genome sequencing for probands from both families were performed followed by Sanger sequencing to confirm segregation of identified variants in the respective families. In-silico pathogenicity score prediction for identified variant and amino acid conservation analys …
Whole genome sequencing for probands from both families were performed followed by Sanger sequencing to confirm segregation of identified va …
Kyphomelic dysplasia.
Temple IK, Thompson EM, Hall CM, Bridgeman G, Pembrey ME. Temple IK, et al. J Med Genet. 1989 Jul;26(7):457-61. doi: 10.1136/jmg.26.7.457. J Med Genet. 1989. PMID: 2746619 Free PMC article.
The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly. Th …
The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short …
Dual-Energy X-ray Absorptiometry Predictors of Vertebral Deformities in Beta-Thalassemia Major.
Osella G, Priola AM, Priola SM, Piga A, Longo F, Ventura M, Bentivegna G, Angeli A, Veltri A, Terzolo M. Osella G, et al. J Clin Densitom. 2018 Oct-Dec;21(4):507-516. doi: 10.1016/j.jocd.2017.06.028. Epub 2017 Jul 27. J Clin Densitom. 2018. PMID: 28756994 Free article.
We performed a retrospective cross-sectional study to investigate the prevalence of vertebral deformities in thalassemic patients and to identify their best dual-energy X-ray absorptiometry (DXA) predictor among trabecular bone score (TBS), bone mineral density (BMD), and …
We performed a retrospective cross-sectional study to investigate the prevalence of vertebral deformities in thalassemic patients and to ide …
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 …
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
Ain NU, Baroncelli M, Costantini A, Ishaq T, Taylan F, Nilsson O, Mäkitie O, Naz S. Ain NU, et al. J Med Genet. 2021 May;58(5):351-356. doi: 10.1136/jmedgenet-2020-106929. Epub 2020 Jun 26. J Med Genet. 2021. PMID: 32591345
Sequencing data were processed, filtered and analysed. In silico analyses were performed to predict the effects of the candidate variant on the protein structure and function. ...
Sequencing data were processed, filtered and analysed. In silico analyses were performed to predict the effects of the candidate vari …
50 results