Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.

Autor: Fazelzadeh Haghighi N; Dermatology Department, Shiraz University of Medical Sciences, Shiraz, Iran.; Molecular Dermatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Kamal N; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Jafari Khamirani H; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Fazelzadeh Haghighi M; Department of Molecular Medicine, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran., Dastgheib SA; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Dianatpour M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Tabei SMB; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Publikováno v: The Journal of dermatology [J Dermatol] 2023 Oct; Vol. 50 (10), pp. 1357-1362. Date of Electronic Publication: 2023 Jun 02.

Evaluation of EDARADD , LPO and ACTN2 genes polymorphisms in children with dental caries compared to caries-free controls.

Autor: Lotfalizadeh MH; North Khorasan University of Medical Sciences, 0098051 Bojnurd, Iran., Shahedi S; Faculty of Dentistry, Yerevan State Medical University, 0054 Yerevan, Armenia., Kobravi S; Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Tehran Azad University, 0098021 Tehran, Iran., Shekari A; Faculty of Dentistry, Yerevan State Medical University, 0054 Yerevan, Armenia., Nazari Y; Faculty of Dentistry, Tehran Medical Sciences, Islamic Azad University, 0098021 Tehran, Iran., Pirmoradi Z; School of International Education, Faculty of Stomatology, Zhengzhou University, 451450 Zhengzhou, Henan, China., Nazari K; School of International Education, Faculty of Stomatology, Zhengzhou University, 451450 Zhengzhou, Henan, China., Safari M; Department of Operative Dentistry, Dental School, Islamic Azad University of Isfahan branch, 0098031 Isfahan, Iran., Taheri F; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, 0098031 Isfahan, Iran., Alizadeh FL; Dental Research Center, Mashhad University of Medical Sciences, 0098051 Mashhad, Iran.

Publikováno v: The Journal of clinical pediatric dentistry [J Clin Pediatr Dent] 2024 Nov; Vol. 48 (6), pp. 152-160. Date of Electronic Publication: 2024 Nov 03.

Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep.

Autor: Liang B; National Germplasm Center of Domestic Animal Resources, Ministry of Technology, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing, China; National Engineering Laboratory for Animal Breeding and MOA Key Laboratory of Animal Genetics and Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China; Key Laboratory of Livestock and Poultry Resources (Cattle) Evaluation and Utilization, Ministry of Agriculture and Rural Affairs, China., Bai T; National Germplasm Center of Domestic Animal Resources, Ministry of Technology, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing, China; Key Laboratory of Livestock and Poultry Resources (Cattle) Evaluation and Utilization, Ministry of Agriculture and Rural Affairs, China., Zhao Y; National Germplasm Center of Domestic Animal Resources, Ministry of Technology, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing, China; Key Laboratory of Livestock and Poultry Resources (Cattle) Evaluation and Utilization, Ministry of Agriculture and Rural Affairs, China., Han J; National Germplasm Center of Domestic Animal Resources, Ministry of Technology, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing, China; Key Laboratory of Livestock and Poultry Resources (Cattle) Evaluation and Utilization, Ministry of Agriculture and Rural Affairs, China; Animal Genomics Laboratory, UCD School of Agriculture and Food Science, UCD College of Health and Agricultural Sciences, University College Dublin, Belfield, Dublin D04 V1W8, Ireland., He X; National Germplasm Center of Domestic Animal Resources, Ministry of Technology, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing, China; Key Laboratory of Livestock and Poultry Resources (Cattle) Evaluation and Utilization, Ministry of Agriculture and Rural Affairs, China., Pu Y; National Germplasm Center of Domestic Animal Resources, Ministry of Technology, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing, China; Key Laboratory of Livestock and Poultry Resources (Cattle) Evaluation and Utilization, Ministry of Agriculture and Rural Affairs, China., Wang C; Institute of Animal Sciences, Jilin Academy of Agricultural Sciences, Gongzhuling 136100, China., Liu W; College of Animal Science, Xinjiang Agriculture University, Urumqi, Xinjiang, China., Ma Q; Institute of Animal Science, Ningxia Academy of Agriculture and Forestry Sciences, Yinchuan 75002, Ningxia, China., Tian K; Institute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Jinan, China; Xinjiang Academy of Animal Science, China., Zheng W; Xinjiang Academy of Animal Science, China., Liu N; College of Animal Science and Technology, Qingdao Agricultural University, China., Liu J; National Engineering Laboratory for Animal Breeding and MOA Key Laboratory of Animal Genetics and Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China. Electronic address: liujf@cau.edu.cn., Ma Y; National Germplasm Center of Domestic Animal Resources, Ministry of Technology, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing, China; Key Laboratory of Livestock and Poultry Resources (Cattle) Evaluation and Utilization, Ministry of Agriculture and Rural Affairs, China. Electronic address: yuehui.ma@263.net., Jiang L; National Germplasm Center of Domestic Animal Resources, Ministry of Technology, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing, China; Key Laboratory of Livestock and Poultry Resources (Cattle) Evaluation and Utilization, Ministry of Agriculture and Rural Affairs, China. Electronic address: jianglin@caas.cn.

Publikováno v: Journal of advanced research [J Adv Res] 2024 Mar; Vol. 57, pp. 1-13. Date of Electronic Publication: 2023 May 01.

Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.

Autor: Yu K; Department of Second Dental Center, Ninth People's Hospital Affiliated with Shanghai Jiao Tong University, School of Medicine, Shanghai Key Laboratory of Stomatology, National Clinical Research Center of Stomatology, Shanghai, China.; Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Institute of Precision Medicine, Shanghai, China., Sheng Y; Department of Second Dental Center, Ninth People's Hospital Affiliated with Shanghai Jiao Tong University, School of Medicine, Shanghai Key Laboratory of Stomatology, National Clinical Research Center of Stomatology, Shanghai, China.; Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wang F; Department of Second Dental Center, Ninth People's Hospital Affiliated with Shanghai Jiao Tong University, School of Medicine, Shanghai Key Laboratory of Stomatology, National Clinical Research Center of Stomatology, Shanghai, China.; Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Yang S; Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Institute of Precision Medicine, Shanghai, China., Wan F; Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Institute of Precision Medicine, Shanghai, China., Lei M; Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Institute of Precision Medicine, Shanghai, China., Wu Y; Department of Second Dental Center, Ninth People's Hospital Affiliated with Shanghai Jiao Tong University, School of Medicine, Shanghai Key Laboratory of Stomatology, National Clinical Research Center of Stomatology, Shanghai, China.; Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Publikováno v: Oral diseases [Oral Dis] 2024 Oct; Vol. 30 (7), pp. 4598-4607. Date of Electronic Publication: 2024 Jan 29.

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Autor: Kim MJ; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, 101, Daehak-ro, Jongno-gu, Seoul, 110-744, Korea., Chae SW; Department of Laboratory Medicine, Seoul National University Hospital, 101, Daehak-ro, Jongno-gu, Seoul, 110-744, Korea.; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea., Cho SI; Department of Laboratory Medicine, Seoul National University Hospital, 101, Daehak-ro, Jongno-gu, Seoul, 110-744, Korea., Moon J; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Ko JM; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, 101, Daehak-ro, Jongno-gu, Seoul, 110-744, Korea. mwseong@snu.ac.kr.; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea. mwseong@snu.ac.kr.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 07; Vol. 19 (1), pp. 329. Date of Electronic Publication: 2024 Sep 07.