Zobrazeno 1 - 10
of 3 069
pro vyhledávání: '"Tcf4"'
Autor:
R. R. Savchenko, N. A. Skryabin
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 28, Iss 7, Pp 770-779 (2024)
Our understanding of human genes - particularly their structure, functions, and regulatory mechanisms - is still limited. The biological role of approximately 20 % of human proteins has not been established yet, and the molecular functions of the kno
Externí odkaz:
https://doaj.org/article/17ebabb3da394d81a8cce062f195c38b
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background Pitt–Hopkins syndrome (PTHS) is a rare genetic condition caused by a mutation in the transcription Factor 4 (TCF4) gene and characterized by its unique clinical presentations. At present, there is an incomplete understanding of
Externí odkaz:
https://doaj.org/article/50ecf746ab9644b0b23689739381b812
Autor:
Tingting Zhao, Fan Yang, Bingbing Zhang, Yongyong Ren, Jiuzhou Yuan, Yu Wang, Hui Lu, Guangjun Yu, Jincai Feng
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Background Pitt–Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from variants of TCF4 gene. PTHS follows an autosomal dominant inheritance pattern and the underlying pathological mechanisms of this disease are st
Externí odkaz:
https://doaj.org/article/efbc2970cfd9422eaf6e31b6cdd53cbf
Autor:
Celine Chiu, Alma Küchler, Christel Depienne, Corinna Preuße, Adela Della Marina, Andre Reis, Frank J. Kaiser, Kay Nolte, Andreas Hentschel, Ulrike Schara-Schmidt, Heike Kölbel, Andreas Roos
Publikováno v:
Skeletal Muscle, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Background TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe mental
Externí odkaz:
https://doaj.org/article/2e484f64d83a4c958c3c49c8b122eed4
Autor:
Alain C. Burette, Hanna Vihma, Audrey L. Smith, Siddhi S. Ozarkar, Jeff Bennett, David G. Amaral, Benjamin D. Philpot
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
Transcription factor 4 (TCF4) has been implicated in a range of neuropsychiatric disorders, including major depressive disorder, bipolar disorder, and schizophrenia. Mutations or deletions in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare neurodevel
Externí odkaz:
https://doaj.org/article/bf3bae52cadb4d0889b2055288a4d21e
Autor:
Jih-Yang Ko, Feng-Sheng Wang, Wei-Shiung Lian, Fu-Shine Yang, Jeng-Wei Chen, Po-Hua Huang, Chin-Yi Liao, Shu-Jui Kuo
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-20 (2024)
Abstract Background The current treatment of osteogenesis imperfecta (OI) is imperfect. Our study thus delves into the potential of using Dickkopf-1 antisense (DKK1-AS) to treat OI. Methods We analysed serum DKK1 levels and their correlation with lum
Externí odkaz:
https://doaj.org/article/276d3cc336804daa9c83b2dba42ea14d
Publikováno v:
BMC Oral Health, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with physical, cognitive, and behavioral characteristics that is caused by heterozygous mutations in the TCF4 gene. Patients with PTHS might present a unique chall
Externí odkaz:
https://doaj.org/article/07d88b8cdf654aaa92800ca18fef0c90
Autor:
Ruocen Liao, Xingyu Chen, Qianhua Cao, Longchang Bai, Chenglong Ma, Zhijun Dai, Chenfang Dong
Publikováno v:
Breast Cancer Research, Vol 26, Iss 1, Pp 1-17 (2024)
Abstract Background Basal-like breast cancer (BLBC) is the most aggressive subtype of breast cancer due to its aggressive characteristics and lack of effective therapeutics. However, the mechanism underlying its aggressiveness remains largely unclear
Externí odkaz:
https://doaj.org/article/93e5aa0bfb9b45c9940ef3095bd9918f
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Akademický článek
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