Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants
Objective. Mutations of the KCNJ11 gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensiti...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2020-10-01
|
| Series: | Endocrine Regulations |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/enr-2020-0029 |
| _version_ | 1818570450344607744 |
|---|---|
| author | Stanik Juraj Barak Lubomir Dankovcikova Adriana Valkovicova Terezia Skopkova Martina Gasperikova Daniela |
| author_facet | Stanik Juraj Barak Lubomir Dankovcikova Adriana Valkovicova Terezia Skopkova Martina Gasperikova Daniela |
| author_sort | Stanik Juraj |
| collection | DOAJ |
| description | Objective. Mutations of the KCNJ11 gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensitive KCNJ11 variants. |
| first_indexed | 2024-12-14T13:41:28Z |
| format | Article |
| id | doaj.art-c0affae03f414a0bafd86c422769f7f4 |
| institution | Directory Open Access Journal |
| issn | 1336-0329 |
| language | English |
| last_indexed | 2024-12-14T13:41:28Z |
| publishDate | 2020-10-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Endocrine Regulations |
| spelling | doaj.art-c0affae03f414a0bafd86c422769f7f42022-12-21T22:59:26ZengSciendoEndocrine Regulations1336-03292020-10-0154426026510.2478/enr-2020-0029enr-2020-0029Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variantsStanik Juraj0Barak Lubomir1Dankovcikova Adriana2Valkovicova Terezia3Skopkova Martina4Gasperikova Daniela5DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, SlovakiaChildren Diabetes Centre of the Slovak Republic at the Department of Paediatrics, Medical Faculty of Comenius University and National Institute for Children′s Diseases, Bratislava, SlovakiaDepartment of Pediatrics, Children Faculty Hospital, Kosice, SlovakiaDIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, SlovakiaDIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, SlovakiaDIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, SlovakiaObjective. Mutations of the KCNJ11 gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensitive KCNJ11 variants.https://doi.org/10.2478/enr-2020-0029permanent neonatal diabetes mellituskcnj11childrenmothersdiabetes controlsulfonylureac-peptide |
| spellingShingle | Stanik Juraj Barak Lubomir Dankovcikova Adriana Valkovicova Terezia Skopkova Martina Gasperikova Daniela Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants Endocrine Regulations permanent neonatal diabetes mellitus kcnj11 children mothers diabetes control sulfonylurea c-peptide |
| title | Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants |
| title_full | Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants |
| title_fullStr | Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants |
| title_full_unstemmed | Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants |
| title_short | Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants |
| title_sort | comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same kcnj11 variants |
| topic | permanent neonatal diabetes mellitus kcnj11 children mothers diabetes control sulfonylurea c-peptide |
| url | https://doi.org/10.2478/enr-2020-0029 |
| work_keys_str_mv | AT stanikjuraj comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants AT baraklubomir comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants AT dankovcikovaadriana comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants AT valkovicovaterezia comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants AT skopkovamartina comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants AT gasperikovadaniela comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants |