Results 41 to 50 of about 7,423 (270)

Identification of novel Lynch syndrome mutations in Chinese patients with endometriod endometrial cancer

Cancer Biology & Medicine, 2020
Objective: Lynch syndrome (LS) predisposes patients to early onset endometrioid endometrial cancer (EEC). However, little is known about LS-related EEC in the Chinese population.
Caixia Ren, Yan Liu, Yuxiang Wang, Yan Tang, Yawei Wei, Congrong Liu, Hongquan Zhang   +6 more
doaj   +1 more source

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant [PDF]

, 2023
Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.
Pohjola, P., Hietala, M., Parikka, V., Peltonen, Sirkku,, Helenius, K., Kainulainen, L., Ojala, L.   +6 more
core   +2 more sources

Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape

Cell Reports, 2018
Summary: Transcription factor p63 is a key regulator of epidermal keratinocyte proliferation and differentiation. Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome. However,
Jieqiong Qu, Sabine E.J. Tanis, Jos P.H. Smits, Evelyn N. Kouwenhoven, Martin Oti, Ellen H. van den Bogaard, Colin Logie, Hendrik G. Stunnenberg, Hans van Bokhoven, Klaas W. Mulder, Huiqing Zhou   +10 more
doaj   +1 more source

Prognostic-Related Metabolic Score for Survival Prediction in Early-Stage Endometrioid Endometrial Cancer: A Multi-Center and Retrospective Study

Frontiers in Medicine, 2022
ObjectivePatients with endometrial cancer (EC) combined with metabolic syndrome (MetS) have a worse prognosis than those without MetS. This study aimed to investigate whether partial metabolic disorder significantly influenced early-stage endometrioid EC
Zizhuo Wang, Zizhuo Wang, Kun Song, Jingbo Liu, Jingbo Liu, Qing Zhang, Chuyao Zhang, Beibei Wang, Beibei Wang, Yu Fu, Yu Fu, Yu Wang, Shuzhong Yao, Congjian Xu, Min Xia, Ge Lou, Jihong Liu, Bei Lin, Jianliu Wang, Weidong Zhao, Jieqing Zhang, Wenjun Cheng, Hongyan Guo, Ruixia Guo, Fengxia Xue, Xipeng Wang, Lili Han, Xia Zhao, Xiaomao Li, Ping Zhang, Jianguo Zhao, Jianguo Zhao, Jianguo Zhao, Jiezhi Ma, Qin Yao, Wenting Li, Wenting Li, Xiaohang Yang, Xiaohang Yang, Yong Fang, Yong Fang, Gang Chen, Gang Chen, Kezhen Li, Kezhen Li, Yuanming Shen, Chaoyang Sun, Chaoyang Sun, Beihua Kong   +48 more
doaj   +1 more source

Case study of patient affected by the mosaic form of de-novo p63 related EEC syndrome

, 2023
reservedThe Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare genetic disorder that is inherited in an autosomal dominant manner, resulting in ocular morbidity, hand and foot malformations.
ANARI BEIGDILOO, HANIEH
core  

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing

Frontiers in Oncology, 2019
Endometrial intraepithelial neoplasia (EIN), also known as endometrial atypical hyperplasia (EAH) is believed to be the precursor lesion of endometrioid endometrial carcinoma (EEC).
Yao Wang, Mei Yu, Jia-Xin Yang, Dong-Yan Cao, Ying Zhang, Hui-Mei Zhou, Zhen Yuan, Keng Shen   +7 more
doaj   +1 more source

Gene therapy approaches for correction of EEC phenotype in the cornea

, 2023
reservedEctrodactyly–ectodermal dysplasia–clefting syndrome (EEC) syndrome is an autosomal dominant disease caused by mutations in the TP63 gene. p63 is a transcription factor essential for ectodermal development, oocytes genetic quality control and ...
FREGONESE, SILVIA
core  

Table1_Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.docx

, 2022
Ectrodactyly–ectodermal dysplasia–cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting.
Cheng Weiwei (12676577), Wang Shan (14031441), Wang Yanlin (12254177), Zhao Xinrong (14031432), Sun Jinling (14031438), He Biwei (14031429), Gao Li (547153), Wu Yi (770112), Hua Renyi (14031435), Su Min (366250)   +9 more
core   +1 more source

A case of EEC syndrome.

Japanese Journal of Oral & Maxillofacial Surgery, 2001
EEC syndrome is characterized by ectrodactyly, ectodermal dysplasia, and cleft lip or palate (or both). We encountered a case of EEC syndrome and report this case with a discussion of the literature. The patient was a 1-month-old boy with bilateral split hands and feet.
YOSHIDA, Kaori, ASAHINA, Izumi, ISHII, Yoshimasa, HARASHIMA, Masaru, MARUKAWA, Eriko   +4 more
openaire   +2 more sources

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2014
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in
Reema Sharma Dhar, Amitava Bora
doaj   +1 more source