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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04078naa a2200469 4500 | |
| 001 | oai:lup.lub.lu.se:6a0a638a-5e30-4ff9-ba97-13f6e8cfe784 | |
| 003 | SwePub | |
| 008 | 201002s2021 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/6a0a638a-5e30-4ff9-ba97-13f6e8cfe7842 URI |
| 024 | 7 | a https://doi.org/10.1111/jdi.133782 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Liang, Huau Third Affiliated Hospital of Sun Yat‐sen University4 aut |
| 245 | 1 0 | a Recognition of maturity-onset diabetes of the young in China |
| 264 | c 2020-09-09 | |
| 264 | 1 | b Wiley,c 2021 |
| 520 | a Aims/Introduction: Given that mutations related to maturity-onset diabetes of the young (MODY) are rarely found in Chinese populations, we aim to characterize the mutation spectrum of MODY pedigrees. Materials and Methods: Maturity-onset diabetes of the young candidate gene- or exome-targeted capture sequencing was carried out in 76 probands from unrelated families fulfilling the clinical diagnostic criteria for MODY. MAF <0.01 in the GnomAD or ExAC database was used to filter significant variants. Sanger sequencing was then carried out to validate findings. Function prediction by SIFT, PolyPhen-2 and PROVEAN or CADD was carried out in missense mutations. Results: A total of 32 mutations in six genes were identified in 31 families, accounting for 40.79% of the potential MODY families. The MODY subtype detection rate was 18.42% for GCK, 15.79% for HNF1A, 2.63% for HNF4A, and 1.32% for KLF11, PAX4 and NEUROG3. Seven nonsense/frameshift mutations and four missense mutations with damaging prediction were newly identified novel mutations. The clinical features of MODY2, MODY3/1 and MODYX are similar to previous reports. Clinical phenotype of NEUROG3 p.Arg55Glufs*23 is characterized by hyperglycemia and mild intermittent abdominal pain. Conclusions: This study adds to the emerging pattern of MODY epidemiology that the proportion of MODY explained by known pathogenic genes is higher than that previously reported, and found NEUROG3 as a new causative gene for MODY. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
| 653 | a Chinese | |
| 653 | a Maturity-onset diabetes of the young | |
| 653 | a Pathogenic genes | |
| 700 | 1 | a Zhang, Yananu Third Affiliated Hospital of Sun Yat‐sen University4 aut |
| 700 | 1 | a Li, Maixinyueu Nanning Children’s Hospital4 aut |
| 700 | 1 | a Yan, Jinhuau Third Affiliated Hospital of Sun Yat‐sen University4 aut |
| 700 | 1 | a Yang, Daizhiu Third Affiliated Hospital of Sun Yat‐sen University4 aut |
| 700 | 1 | a Luo, Sihuiu University of Science and Technology of China4 aut |
| 700 | 1 | a Zheng, Xueyingu University of Science and Technology of China4 aut |
| 700 | 1 | a Yang, Guoqingu General Hospital of People's Liberation Army4 aut |
| 700 | 1 | a Li, Zhuou Third Affiliated Hospital of Sun Yat‐sen University4 aut |
| 700 | 1 | a Xu, Wenu Third Affiliated Hospital of Sun Yat‐sen University4 aut |
| 700 | 1 | a Groop, Leifu Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups4 aut0 (Swepub:lu)endo-lgr |
| 700 | 1 | a Weng, Jianpingu Third Affiliated Hospital of Sun Yat‐sen University4 aut |
| 710 | 2 | a Third Affiliated Hospital of Sun Yat‐sen Universityb Nanning Children’s Hospital4 org |
| 773 | 0 | t Journal of Diabetes Investigationd : Wileyg 12:4, s. 501-509q 12:4<501-509x 2040-1116x 2040-1124 |
| 856 | 4 | u http://dx.doi.org/10.1111/jdi.13378x freey FULLTEXT |
| 856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jdi.13378 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/6a0a638a-5e30-4ff9-ba97-13f6e8cfe784 |
| 856 | 4 8 | u https://doi.org/10.1111/jdi.13378 |
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