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Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
Tüysüz B, Geyik F, Yıldırım T, Alkaya DU, Sharifova S, Kafadar A. Tüysüz B, et al. Eur J Med Genet. 2021 Jul;64(7):104248. doi: 10.1016/j.ejmg.2021.104248. Epub 2021 May 14. Eur J Med Genet. 2021. PMID: 34000439
Smith-McCort dysplasia 2 (SMC2) is a rare spondylo-epiphyseal-metaphyseal dysplasia caused by biallelic RAB33B variants. ...Typical double hump appearance of vertebral bodies was present in patients under 12 years of age, which disappeared after puberty and d …
Smith-McCort dysplasia 2 (SMC2) is a rare spondylo-epiphyseal-metaphyseal dysplasia caused by biallelic RAB33B variants …
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 …
Whole genome sequencing for probands from both families were performed followed by Sanger sequencing to confirm segregation of identified va …
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. Ehtesham N, et al. Am J Hum Genet. 2002 Oct;71(4):947-51. doi: 10.1086/342669. Epub 2002 Aug 2. Am J Hum Genet. 2002. PMID: 12161821 Free PMC article.
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. ...Analysis of a second, smaller family was also consistent with linkage to this region, producing a maximum …
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short tru …
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V. Neumann LM, et al. Am J Med Genet A. 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. Am J Med Genet A. 2006. PMID: 16470731
Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo-epi-metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapp …
Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic auto …
Functional Roles of CD26/DPP4 in Bleomycin-Induced Pulmonary Hypertension Associated with Interstitial Lung Disease.
Okaya T, Kawasaki T, Sato S, Koyanagi Y, Tatsumi K, Hatano R, Ohnuma K, Morimoto C, Kasuya Y, Hasegawa Y, Ohara O, Suzuki T. Okaya T, et al. Int J Mol Sci. 2024 Jan 6;25(2):748. doi: 10.3390/ijms25020748. Int J Mol Sci. 2024. PMID: 38255821 Free PMC article.
The BLM-induced increase in the right ventricular systolic pressure and the right ventricular hypertrophy observed in WT mice were attenuated in Dpp4KO mice. The BLM-induced vascular muscularization in small pulmonary vessels in Dpp4KO mice was milder than that in WT mice. …
The BLM-induced increase in the right ventricular systolic pressure and the right ventricular hypertrophy observed in WT mice were at …