Zobrazeno 1 - 10
of 1 444
pro vyhledávání: '"JAG1"'
Autor:
Ernest Keefer-Jacques, Nicolette Valente, Anastasia M. Jacko, Grace Matwijec, Apsara Reese, Aarna Tekriwal, Kathleen M. Loomes, Nancy B. Spinner, Melissa A. Gilbert
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100351- (2024)
Summary: Haploinsufficiency of JAG1 is the primary cause of Alagille syndrome (ALGS), a rare, multisystem disorder. The identification of JAG1 intronic variants outside of the canonical splice region as well as missense variants, both of which lead t
Externí odkaz:
https://doaj.org/article/4977bb6db93942e6a007af2b92c9f12b
Publikováno v:
International Journal of General Medicine, Vol Volume 17, Pp 885-894 (2024)
Miaomiao Li,1,2 Xiaoyu Wang,1,2 Fang Wang,3 Fengqi Wang,1,2 Dehua Zhao,4 Shiguo Liu1,2 1Department of Medical Genetic, the Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China; 2Prenatal Diagnosis Center, the Affiliated Ho
Externí odkaz:
https://doaj.org/article/7204c25267a940feaa31605f1f9c573d
Autor:
Cora E. Miracle, Chelsea L. McCallister, Krista L. Denning, Rebecca Russell, Jennifer Allen, Logan Lawrence, Mary Legenza, Diane Krutzler-Berry, Travis B. Salisbury
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10592 (2024)
Breast cancer is the most common cancer in women with multiple risk factors including smoking, genetics, environmental factors, and obesity. Smoking and obesity are the top two risk factors for the development of breast cancer. The effect of obesity
Externí odkaz:
https://doaj.org/article/c90daf2cec184236989e97e595b81963
Akademický článek
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Publikováno v:
Egyptian Liver Journal, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Background Alagille syndrome is a rare autosomal-dominant disorder, representing 10 to 15% of the causes of neonatal cholestasis with no gender predominance. The diagnosis is based on the association of liver, heart, eye, skeleton abnormalit
Externí odkaz:
https://doaj.org/article/b93a2d68f90d4028a017786210e22ffb
Publikováno v:
Genes and Diseases, Vol 10, Iss 5, Pp 2167-2178 (2023)
Despite significant improvements in five-year survival rates due to early diagnosis and combination therapy, triple-negative breast cancer (TNBC) treatment remains a major challenge. Finding new and effective targets for diagnosis and drug therapy is
Externí odkaz:
https://doaj.org/article/abc393386b16458fab4962b2adc11028
Autor:
Xiaoli Lv, Zhenyan Li, Yunpeng Dai, Yuji Xiao, Fangrong Shen, Jian Wang, Jianping Cao, Lili Wang, Qiliang Peng, Yang Jiao
Publikováno v:
Heliyon, Vol 10, Iss 2, Pp e24412- (2024)
Radiotherapy is a key treatment option for colorectal cancer, but its efficacy varies among patients. Our previous studies suggested that adipose tissue may confer the radioresistance of several abdominal tumors, such as pancreatic cancer, biliary ca
Externí odkaz:
https://doaj.org/article/2c59cf050d4746b9bd9114f2831e38b0
Publikováno v:
Pifu-xingbing zhenliaoxue zazhi, Vol 30, Iss 2, Pp 113-119 (2023)
Objective To investigate the association of miR-34a-5p and JAG1 with type of human papillomavirus (HPV) and the prognosis. Methods Samples of condyloma acuminatum were collected from 101 patients with condyloma acuminatum (all HPV positive) at our ho
Externí odkaz:
https://doaj.org/article/adfb6701b0704f9297a2cd677bfbfb05
Autor:
Bo Shi, Fei Ge, Liangliang Cai, Yi Yang, Xiaohui Guo, Rui Wu, Zhehao Fan, Binjie Cao, Ning Wang, Yue Si, Xinyue Lin, Weibing Dong, Haibo Sun
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionLow-grade glioma (LGG) is a prevalent malignant tumor in the intracranial region. Despite the advancements in treatment methods for this malignancy over the past decade, significant challenges still persist in the form of drug resistance
Externí odkaz:
https://doaj.org/article/452de4af42294ce0bda72d5991c85087
Autor:
Che‐Ming Chiang, Yung‐Ming Jeng, Ming‐Chih Ho, Ming‐Wei Lai, Huei‐Ying Li, Pei‐Lung Chen, Ni‐Chung Lee, Jia‐Feng Wu, Yu‐Chun Chiu, Bang‐Yu Liou, Yen‐Hsuan Ni, Hong‐Yuan Hsu, Mei‐Hwei Chang, Huey‐Ling Chen
Publikováno v:
JGH Open, Vol 6, Iss 12, Pp 839-845 (2022)
Abstract Background and Aim Alagille syndrome (ALGS) is a multisystem disorder with variable clinical courses. This study investigated the clinical and genetic features of ALGS patients with different outcomes and analyzed the liver pathology at live
Externí odkaz:
https://doaj.org/article/c4fe4b8c39664be18f32bf07e6276ac7