A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Genes Genet Syst. 2023 Sep 7. doi: 10.1266/ggs.22-00138. Online ahead of print.ABSTRACTEctodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth ...
Source: Genes and Genetic Systems - September 6, 2023 Category: Genetics & Stem Cells Authors: Eyyup Rencuzogullari Banu Guven Ezer Source Type: research
Subtelomeres: hotspots of genome variation
Genes Genet Syst. 2023 Aug 30. doi: 10.1266/ggs.23-00049. Online ahead of print.ABSTRACTEukaryotic cells contain multiple types of duplicated sequences. Typical examples are tandem repeat sequences including telomeres, centromeres, rDNA genes and transposable elements. Most of these sequences are unstable; thus, their copy numbers or sequences change rapidly in the course of evolution. In this review, I will describe roles of subtelomere regions, which are located adjacent to telomeres at chromosome ends, and recent discoveries about their sequence variation.PMID:37648502 | DOI:10.1266/ggs.23-00049 (Source: Genes and Genetic Systems)
Source: Genes and Genetic Systems - August 30, 2023 Category: Genetics & Stem Cells Authors: Junko Kanoh Source Type: research
Subtelomeres: hotspots of genome variation
Genes Genet Syst. 2023 Aug 30. doi: 10.1266/ggs.23-00049. Online ahead of print.ABSTRACTEukaryotic cells contain multiple types of duplicated sequences. Typical examples are tandem repeat sequences including telomeres, centromeres, rDNA genes and transposable elements. Most of these sequences are unstable; thus, their copy numbers or sequences change rapidly in the course of evolution. In this review, I will describe roles of subtelomere regions, which are located adjacent to telomeres at chromosome ends, and recent discoveries about their sequence variation.PMID:37648502 | DOI:10.1266/ggs.23-00049 (Source: Genes and Genetic Systems)
Source: Genes and Genetic Systems - August 30, 2023 Category: Genetics & Stem Cells Authors: Junko Kanoh Source Type: research
Subtelomeres: hotspots of genome variation
Genes Genet Syst. 2023 Aug 30. doi: 10.1266/ggs.23-00049. Online ahead of print.ABSTRACTEukaryotic cells contain multiple types of duplicated sequences. Typical examples are tandem repeat sequences including telomeres, centromeres, rDNA genes and transposable elements. Most of these sequences are unstable; thus, their copy numbers or sequences change rapidly in the course of evolution. In this review, I will describe roles of subtelomere regions, which are located adjacent to telomeres at chromosome ends, and recent discoveries about their sequence variation.PMID:37648502 | DOI:10.1266/ggs.23-00049 (Source: Genes and Genetic Systems)
Source: Genes and Genetic Systems - August 30, 2023 Category: Genetics & Stem Cells Authors: Junko Kanoh Source Type: research
