(5ξ,18α)-Olean-12-ene-3,11-diol/(3β,11α)-Olean-12-ene-3,11-diol/Olean-12-ene-3,11-diol, (3β,11α)-/Olean-12-ene-3,11-diol, (5ξ,18α)-
Soluble in Chloroform,Dichloromethane,Ethyl Acetate,DMSO,Acetone,etc.
523.0±50.0 °C at 760 mmHg
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Personal Projective Equipment
For Reference Standard and R&D, Not for Human Use Directly.
provides coniferyl ferulate(CAS#:5282-14-4) MSDS, density, melting point, boiling point, structure, formula, molecular weight etc. Articles of coniferyl ferulate are included as well.>> amp version: coniferyl ferulate
The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. Pathogenic variants in EDA, EDAR, EDARADD, and TRAF6, cause the phenotypic expression of HED. Genetic alterations in EDA and WNT10A cause particularly non-syndromic/isolated oligodontia. In the current project, we recruited 57 patients of 17 genetic pedigrees (A-Q) from different geographic regions of the world, including Pakistan, Egypt, Saudi Arabia, and Syria. The molecular investigation of different syndromic and non-syndromic dental conditions, including hypodontia, oligodontia, generalized odontodysplasia, and dental crowding was carried out by using exome and Sanger sequencing. We have identified a novel missense variant (c.311G>A; p.Arg104His) in WNT10A in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in EDAR in three patients of family B and four patients of family C, respectively. To better understand the structural and functional consequences of missense variants in WNT10A and EDAR on the stability of the proteins, we have performed extensive molecular dynamic (MD) simulations. We have also identified three previously reported pathogenic variants (c.1076T>C; p.Met359Thr), (c.1133C>T; p.Thr378Met) and (c.594_595insC; Gly201Argfs*39) in EDA in family D (four patients), E (two patients) and F (one patient), correspondingly. Presently, our data explain the genetic cause of 18 syndromic and non-syndromic tooth agenesis patients in six autosomal recessive and X-linked pedigrees (A-F), which expand the mutational spectrum of these unique clinical manifestations.
Hypodontia/oligodontia, Hypohidrotic ectodermal dysplasia, WNT10A, EDAR, EDA, exome sequencing, MD simulations
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
Asia Parveen,1,2,† Sher Alam Khan,3,† Muhammad Usman Mirza,4,† Hina Bashir,1,5 Fatima Arshad,1 Maria Iqbal,1 Waseem Ahmad,1 Ahsan Wahab,6 Amal Fiaz,1,7 Sidra Naz,1 Fareeha Ashraf,1 Tayyaba Mobeen,1 Salman Aziz,8,9 Syed Shoaib Ahmed,1 Noor Muhammad,3 Nehal F. Hassib,10 Mostafa I. Mostafa,10 Nagwa E. Gaboon,11 Roquyya Gul,12 Saadullah Khan,3 Matheus Froeyen,4 Muhammad Shoaib,13 and Naveed Wasif1,14,15,*†