The Experts below are selected from a list of 303 Experts worldwide ranked by ideXlab platform

Chen Li - One of the best experts on this subject based on the ideXlab platform.

  • in silico predicted structural and functional insights of all missense mutations on 2b domain of k1 k10 causing Genodermatoses
    Oncotarget, 2016
    Co-Authors: Santasree Banerjee, Qian Wu, Yuyi Ying, Yanni Li, Matsuyuki Shirota, Dante Neculai, Chen Li
    Abstract:

    // Santasree Banerjee 1,2 , Qian Wu 1 , Yuyi Ying 1 , Yanni Li 1 , Matsuyuki Shirota 3 , Dante Neculai 1 and Chen Li 1 1 Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China 2 BGI-Shenzhen, Shenzhen, China 3 Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan Correspondence to: Chen Li, email: // Keywords : Genodermatoses, missense mutations, coiled-coil heterodimer, in silico analysis, Pathology Section Received : March 30, 2016 Accepted : May 17, 2016 Published : July 13, 2016 Abstract The K1 and K10 associated Genodermatoses are characterized by clinical symptoms of mild to severe redness, blistering and hypertrophy of the skin. In this paper, we set out to computationally investigate the structural and functional effects of missense mutations on the 2B domain of K1/K10 heterodimer and its consequences in disease phenotype. We modeled the structure of the K1/K10 heterodimer based on crystal structures for the human homolog K5/K14 heterodimer, and identified that the missense mutations exert their effects on stability and assembly competence of the heterodimer by altering physico-chemical properties, interatomic interactions, and inter-residue atomic contacts. Comparative structural analysis between all the missense mutations and SNPs showed that the location and physico-chemical properties of the substituted amino acid are significantly correlated with phenotypic variations. In particular, we find evidence that a particular SNP ( K10 , p.E443K) is a pathogenic nsSNP which disrupts formation of the hydrophobic core and destabilizes the heterodimer through the loss of interatomic interactions. Our study is the first comprehensive report analyzing the mutations located on 2B domain of K1/K10 heterodimeric coiled-coil complex.

  • In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing Genodermatoses.
    Oncotarget, 2016
    Co-Authors: Santasree Banerjee, Qian Wu, Yuyi Ying, Yanni Li, Matsuyuki Shirota, Dante Neculai, Chen Li
    Abstract:

    // Santasree Banerjee 1,2 , Qian Wu 1 , Yuyi Ying 1 , Yanni Li 1 , Matsuyuki Shirota 3 , Dante Neculai 1 and Chen Li 1 1 Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China 2 BGI-Shenzhen, Shenzhen, China 3 Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan Correspondence to: Chen Li, email: // Keywords : Genodermatoses, missense mutations, coiled-coil heterodimer, in silico analysis, Pathology Section Received : March 30, 2016 Accepted : May 17, 2016 Published : July 13, 2016 Abstract The K1 and K10 associated Genodermatoses are characterized by clinical symptoms of mild to severe redness, blistering and hypertrophy of the skin. In this paper, we set out to computationally investigate the structural and functional effects of missense mutations on the 2B domain of K1/K10 heterodimer and its consequences in disease phenotype. We modeled the structure of the K1/K10 heterodimer based on crystal structures for the human homolog K5/K14 heterodimer, and identified that the missense mutations exert their effects on stability and assembly competence of the heterodimer by altering physico-chemical properties, interatomic interactions, and inter-residue atomic contacts. Comparative structural analysis between all the missense mutations and SNPs showed that the location and physico-chemical properties of the substituted amino acid are significantly correlated with phenotypic variations. In particular, we find evidence that a particular SNP ( K10 , p.E443K) is a pathogenic nsSNP which disrupts formation of the hydrophobic core and destabilizes the heterodimer through the loss of interatomic interactions. Our study is the first comprehensive report analyzing the mutations located on 2B domain of K1/K10 heterodimeric coiled-coil complex.

K A Holbrook - One of the best experts on this subject based on the ideXlab platform.

  • ultrasound guided fetal skin sampling for prenatal diagnosis of Genodermatoses
    Obstetrics & Gynecology, 1994
    Co-Authors: Sherman Elias, K A Holbrook, Donald S Emerson, Joe Leigh Simpson, Lee P Shulman
    Abstract:

    Objective: To evaluate the safety and diagnostic efficacy of ultrasound-guided fetal skin sampling for the prenatal diagnosis of Genodermatoses. Methods: Seventeen pregnancies seen over 6.5 yearn were analyzed retrospectively. Fifteen were at risk for junctional epidermolysis bullosa and two for recessive dystrophic epidermolysis bullosa. Under ultrasound guidance, a biopsy forceps was inserted through a 14-gauge catheter and directed toward the fetus (thorax, back, or buttocks) to obtain skin samples. The procedures were performed at a mean of 18.3 weeks'gestation (range 16.5-19.5). Results: Fetal skin sampling was successful in all cases; the mean number of biopsies taken was 3.6 (range two to five)

Santasree Banerjee - One of the best experts on this subject based on the ideXlab platform.

  • in silico predicted structural and functional insights of all missense mutations on 2b domain of k1 k10 causing Genodermatoses
    Oncotarget, 2016
    Co-Authors: Santasree Banerjee, Qian Wu, Yuyi Ying, Yanni Li, Matsuyuki Shirota, Dante Neculai, Chen Li
    Abstract:

    // Santasree Banerjee 1,2 , Qian Wu 1 , Yuyi Ying 1 , Yanni Li 1 , Matsuyuki Shirota 3 , Dante Neculai 1 and Chen Li 1 1 Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China 2 BGI-Shenzhen, Shenzhen, China 3 Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan Correspondence to: Chen Li, email: // Keywords : Genodermatoses, missense mutations, coiled-coil heterodimer, in silico analysis, Pathology Section Received : March 30, 2016 Accepted : May 17, 2016 Published : July 13, 2016 Abstract The K1 and K10 associated Genodermatoses are characterized by clinical symptoms of mild to severe redness, blistering and hypertrophy of the skin. In this paper, we set out to computationally investigate the structural and functional effects of missense mutations on the 2B domain of K1/K10 heterodimer and its consequences in disease phenotype. We modeled the structure of the K1/K10 heterodimer based on crystal structures for the human homolog K5/K14 heterodimer, and identified that the missense mutations exert their effects on stability and assembly competence of the heterodimer by altering physico-chemical properties, interatomic interactions, and inter-residue atomic contacts. Comparative structural analysis between all the missense mutations and SNPs showed that the location and physico-chemical properties of the substituted amino acid are significantly correlated with phenotypic variations. In particular, we find evidence that a particular SNP ( K10 , p.E443K) is a pathogenic nsSNP which disrupts formation of the hydrophobic core and destabilizes the heterodimer through the loss of interatomic interactions. Our study is the first comprehensive report analyzing the mutations located on 2B domain of K1/K10 heterodimeric coiled-coil complex.

  • In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing Genodermatoses.
    Oncotarget, 2016
    Co-Authors: Santasree Banerjee, Qian Wu, Yuyi Ying, Yanni Li, Matsuyuki Shirota, Dante Neculai, Chen Li
    Abstract:

    // Santasree Banerjee 1,2 , Qian Wu 1 , Yuyi Ying 1 , Yanni Li 1 , Matsuyuki Shirota 3 , Dante Neculai 1 and Chen Li 1 1 Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China 2 BGI-Shenzhen, Shenzhen, China 3 Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan Correspondence to: Chen Li, email: // Keywords : Genodermatoses, missense mutations, coiled-coil heterodimer, in silico analysis, Pathology Section Received : March 30, 2016 Accepted : May 17, 2016 Published : July 13, 2016 Abstract The K1 and K10 associated Genodermatoses are characterized by clinical symptoms of mild to severe redness, blistering and hypertrophy of the skin. In this paper, we set out to computationally investigate the structural and functional effects of missense mutations on the 2B domain of K1/K10 heterodimer and its consequences in disease phenotype. We modeled the structure of the K1/K10 heterodimer based on crystal structures for the human homolog K5/K14 heterodimer, and identified that the missense mutations exert their effects on stability and assembly competence of the heterodimer by altering physico-chemical properties, interatomic interactions, and inter-residue atomic contacts. Comparative structural analysis between all the missense mutations and SNPs showed that the location and physico-chemical properties of the substituted amino acid are significantly correlated with phenotypic variations. In particular, we find evidence that a particular SNP ( K10 , p.E443K) is a pathogenic nsSNP which disrupts formation of the hydrophobic core and destabilizes the heterodimer through the loss of interatomic interactions. Our study is the first comprehensive report analyzing the mutations located on 2B domain of K1/K10 heterodimeric coiled-coil complex.

Sherman Elias - One of the best experts on this subject based on the ideXlab platform.

  • ultrasound guided fetal skin sampling for prenatal diagnosis of Genodermatoses
    Obstetrics & Gynecology, 1994
    Co-Authors: Sherman Elias, K A Holbrook, Donald S Emerson, Joe Leigh Simpson, Lee P Shulman
    Abstract:

    Objective: To evaluate the safety and diagnostic efficacy of ultrasound-guided fetal skin sampling for the prenatal diagnosis of Genodermatoses. Methods: Seventeen pregnancies seen over 6.5 yearn were analyzed retrospectively. Fifteen were at risk for junctional epidermolysis bullosa and two for recessive dystrophic epidermolysis bullosa. Under ultrasound guidance, a biopsy forceps was inserted through a 14-gauge catheter and directed toward the fetus (thorax, back, or buttocks) to obtain skin samples. The procedures were performed at a mean of 18.3 weeks'gestation (range 16.5-19.5). Results: Fetal skin sampling was successful in all cases; the mean number of biopsies taken was 3.6 (range two to five)

Yuval Ramot - One of the best experts on this subject based on the ideXlab platform.

  • intrauterine diagnosis of Genodermatoses
    Current Dermatology Reports, 2013
    Co-Authors: Yuval Ramot
    Abstract:

    The progress of molecular genetics led to a revolution in prenatal diagnosis of inherited diseases, which also had affected the dermatology field profoundly. New molecular techniques have replaced fetal skin biopsies, which were previously used. Nowadays, we are standing on the brink of great changes, with the advent of noninvasive assays based on fetal cells and fetal DNA residing in the maternal blood. This review is aimed to give the dermatologist a current overview of the available methods for prenatal diagnosis, with an emphasis on Genodermatoses.