Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Swee-Hee Wong"'
Publikováno v:
Cells, Vol 11, Iss 5, p 894 (2022)
KCNQ2 mutations can cause benign familial neonatal convulsions (BFNCs), epileptic encephalopathy (EE), and mild-to-profound neurodevelopmental disabilities. Mutations in the KCNQ2 selectivity filter (SF) are critical to neurodevelopmental outcomes. T
Externí odkaz:
https://doaj.org/article/05ecdea7263a4e3897d01e8bf15aff11
Publikováno v:
Diagnostics, Vol 11, Iss 11, p 2056 (2021)
Identifying biomarkers for hearing impairments (HIs) in patients with neonatal hypoxic–ischemic encephalopathy (HIE), to initialize early hearing habilitation, is crucial. Seventy-eight neonates with HIE were divided into the following two groups:
Externí odkaz:
https://doaj.org/article/c4a585bb73694d12a7b9a23080d358d5
Publikováno v:
Diagnostics, Vol 11, Iss 5, p 897 (2021)
Background: Identifying an effective method for the early diagnosis of neonatal hypoxic-ischemic encephalopathy (HIE) would be beneficial for effective therapies. Methods: We studied blood biomarkers before 6 h after birth to correlate the degree of
Externí odkaz:
https://doaj.org/article/41eb17d73411425dbd38aa053f5114d9
Publikováno v:
Diagnostics, Vol 11, Iss 2056, p 2056 (2021)
Diagnostics
Volume 11
Issue 11
Diagnostics
Volume 11
Issue 11
Identifying biomarkers for hearing impairments (HIs) in patients with neonatal hypoxic–ischemic encephalopathy (HIE), to initialize early hearing habilitation, is crucial. Seventy-eight neonates with HIE were divided into the following two groups:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c01a5a04f742c1bb6b0a6d165d2690a
https://www.mdpi.com/2075-4418/11/11/2056
https://www.mdpi.com/2075-4418/11/11/2056
Publikováno v:
Diagnostics
Volume 11
Issue 5
Diagnostics, Vol 11, Iss 897, p 897 (2021)
Volume 11
Issue 5
Diagnostics, Vol 11, Iss 897, p 897 (2021)
Background: Identifying an effective method for the early diagnosis of neonatal hypoxic-ischemic encephalopathy (HIE) would be beneficial for effective therapies. Methods: We studied blood biomarkers before 6 h after birth to correlate the degree of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6fe3f8b7ce21a2bdefdf69ee5d8366b
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
Pediatric epilepsy caused by KCNQ2 mutations can manifest benign familial neonatal convulsions (BFNC) to neonatal-onset epileptic encephalopathy (EE). Patients might manifest mild to profound neurodevelopmental disabilities. We analysed c.853C > A (P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ea788eb2db500cd4e29510d47b045d6
https://doi.org/10.1038/s41598-020-70212-w
https://doi.org/10.1038/s41598-020-70212-w
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 7
International Journal of Molecular Sciences, Vol 21, Iss 2382, p 2382 (2020)
Volume 21
Issue 7
International Journal of Molecular Sciences, Vol 21, Iss 2382, p 2382 (2020)
A previous study indicated that mutations in the transmembrane protease serine 3 (TMPRSS3) gene, which encodes a transmembrane serine protease, cause nonsyndromic hearing loss (NSHL). This was the first description of a serine protease involved in he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7954586b55f081577c93bc910bc2fd0e
Publikováno v:
International Journal of Medical Sciences
In a previous study, we identified a novel missense mutation, p.W77S, in the GJC3 gene encoding connexin30.2/connexin31.3 (CX30.2/CX31.3) from patients with hearing loss. The functional alteration of CX30.2/CX31.3 caused by the p.W77S mutant of GJC3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde8e776d82b9a26f21a2849498f89da
https://doi.org/10.7150/ijms.17785
https://doi.org/10.7150/ijms.17785
Autor:
Shey Lin Wu, Chun Ching Chiu, Swee Hee Wong, Hsiu Mei Hsieh-Li, Tz Shiu Tsai, Sue-Hong Wang, Wei Tang Chang, Ming-Shiun Tsai, Shin Ling Huang
Publikováno v:
Developmental dynamics : an official publication of the American Association of Anatomists. 239(3)
We identified and cloned a mouse double homeobox gene (Duxbl), which encodes two homeodomains. Duxbl gene, a tandem triplicate produces two major transcripts, Duxbl and Duxbl-s. The amino acid sequences of Duxbl homeodomains are most similar to those
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4191485e7863ea6ef47059f591d0d6c8
https://pubmed.ncbi.nlm.nih.gov/20063414
https://pubmed.ncbi.nlm.nih.gov/20063414