Zobrazeno 1 - 10
of 444
pro vyhledávání: '"Eya1"'
Autor:
Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Objective Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the ou
Externí odkaz:
https://doaj.org/article/3af2a963f61941838169b602feab7d12
Autor:
Hwalin Yi, Yejin Yun, Won Hoon Choi, Hye-Yeon Hwang, Ju Hyuen Cha, Heeyoung Seok, Jae-Jin Song, Jun Ho Lee, Sang-Yeon Lee, Daesik Kim
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102199- (2024)
Pathogenic structure variations (SVs) are associated with various types of cancer and rare genetic diseases. Recent studies have used Cas9 nuclease with paired guide RNAs (gRNAs) to generate targeted chromosomal rearrangements, focusing on producing
Externí odkaz:
https://doaj.org/article/8c333f9f30f44066829147680fbc0ce9
Autor:
Anhai Chen, Jie Ling, Xin Peng, Xianlin Liu, Shuang Mao, Yongjia Chen, Mengyao Qin, Shuai Zhang, Yijiang Bai, Jian Song, Zhili Feng, Lu Ma, Dinghua He, Lingyun Mei, Chufeng He, Yong Feng
Publikováno v:
Clinical and Experimental Otorhinolaryngology, Vol 16, Iss 4, Pp 342-358 (2023)
Objectives. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies
Externí odkaz:
https://doaj.org/article/c466b5735caf4d77b3a02bb09804c767
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Branchiootic syndrome (BOS) is a rare, autosomal dominant syndrome characterized by malformations of the ear associated with hearing loss, second branchial arch anomalies, and the absence of renal anomalies. Herein, we report the case of an 8-year-ol
Externí odkaz:
https://doaj.org/article/f8c7c502075d41c0bbf31782286ec56f
Akademický článek
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Publikováno v:
Biomarker Research, Vol 11, Iss 1, Pp 1-20 (2023)
Abstract The retinal determinant gene network (RDGN), originally discovered as a critical determinator in Drosophila eye specification, has become an important regulatory network in tumorigenesis and progression, as well as organogenesis. This networ
Externí odkaz:
https://doaj.org/article/ff0cca005e864e14a0a52aa76639d2e2
Autor:
Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1, SIX1 and SIX5 genes cause almost half of cases; copy
Externí odkaz:
https://doaj.org/article/8030015ccf53465ba0ce88cd1561ec68
Akademický článek
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Akademický článek
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Autor:
Ting Zhang, Pin-Xian Xu
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Members of the Eya family, which are a class of transcription factors with phosphatase activity, are widely expressed in cranial sensory organs during development. However, it is unclear whether these genes are expressed in the taste system during de
Externí odkaz:
https://doaj.org/article/93ef9700ebf24eb5aa6a8442bf794e47