Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1996 3
1997 1
2003 1
2013 2
2014 1
2015 1
2018 1
2020 3
2021 4
2022 2
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Results by year

Filters applied: . Clear all
Page 1
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N. Pingault V, et al. J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19. J Med Genet. 2022. PMID: 34667088 Free PMC article. Review.
The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations occurring within and around SOX10 cause Waardenburg syndrome type 4. Since then, heterozygous mutations have been reported in Waardenburg …
The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations …
Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.
Ren S, Chen X, Kong X, Chen Y, Wu Q, Jiao Z, Shi H. Ren S, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1128. doi: 10.1002/mgg3.1128. Epub 2020 Jan 20. Mol Genet Genomic Med. 2020. PMID: 31960627 Free PMC article.
RESULTS: We identified six novel variants in microphthalmia-associated transcription factor (MITF) and SRY-box 10 (SOX10), which were predicted to be disease causing by in silico analysis. Our results showed that mutations in SOX10 and MITF are two major causes of deafness …
RESULTS: We identified six novel variants in microphthalmia-associated transcription factor (MITF) and SRY-box 10 (SOX10), which were pre …
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
Wang J, Lu Y, Yan X, Shen T, Li L, Rao Y, Tan B, Xiong W, Cheng J, Zhao Y, Yuan H. Wang J, et al. Mol Genet Genomic Med. 2021 Sep;9(9):e1770. doi: 10.1002/mgg3.1770. Epub 2021 Jul 29. Mol Genet Genomic Med. 2021. PMID: 34323021 Free PMC article.
Massively parallel DNA sequencing was used to find pathogenic genes and Sanger sequencing was used to confirm the variants detected. RESULTS: Sensorineural hearing loss was observed in four of six patients, three had heterochromia iridis, and five have freckled faces. ...
Massively parallel DNA sequencing was used to find pathogenic genes and Sanger sequencing was used to confirm the variants detected. RESULTS …
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
Yang S, Dai P, Liu X, Kang D, Zhang X, Yang W, Zhou C, Yang S, Yuan H. Yang S, et al. PLoS One. 2013 Oct 23;8(10):e77149. doi: 10.1371/journal.pone.0077149. eCollection 2013. PLoS One. 2013. PMID: 24194866 Free PMC article.
Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. ...Th …
Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features …
Clinical findings in Japanese patients with Waardenburg syndrome type 2.
Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki M. Ohno N, et al. Jpn J Ophthalmol. 2003 Jan-Feb;47(1):77-84. doi: 10.1016/s0021-5155(02)00629-9. Jpn J Ophthalmol. 2003. PMID: 12586183 Review.
PURPOSE: To determine the visual characteristics of Japanese subjects with the Waardenburg syndrome type 2. METHODS: The visual functions of 11 albino patients who were identified from the screening of 240 children attending a school for children with …
PURPOSE: To determine the visual characteristics of Japanese subjects with the Waardenburg syndrome type 2. METH …
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
Wang XP, Liu YL, Mei LY, He CF, Niu ZJ, Sun J, Zhao YL, Feng Y, Zhang H. Wang XP, et al. J Hum Genet. 2018 May;63(5):639-646. doi: 10.1038/s10038-018-0425-z. Epub 2018 Mar 12. J Hum Genet. 2018. PMID: 29531335 Free PMC article.
This study's data imply that MITF has a negative feedback loop of regulation to stabilize MITF gene dosage that involves the Wnt signaling pathway and that the interaction of MITF mutants with this pathway drives the genotypic and phenotypic differences observed in Waar …
This study's data imply that MITF has a negative feedback loop of regulation to stabilize MITF gene dosage that involves the Wnt signaling p …
A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
Li Z, Xu K, Zhou Z, Liang C, Gu W, Ran J. Li Z, et al. Mol Biol Rep. 2024 Apr 20;51(1):536. doi: 10.1007/s11033-024-09469-7. Mol Biol Rep. 2024. PMID: 38642155
WES was performed on the patient and his parents to screen causative genetic variants and Sanger sequencing was performed to validate the candidate mutation. The AlphaFold2 software was used to predict the changes in the 3D structure of the mutant protein. Western blotting …
WES was performed on the patient and his parents to screen causative genetic variants and Sanger sequencing was performed to validate the ca …
Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.
Akal A, Göncü T, Boyaci N, Yılmaz ÖF. Akal A, et al. BMJ Case Rep. 2013 Dec 18;2013:bcr2013201140. doi: 10.1136/bcr-2013-201140. BMJ Case Rep. 2013. PMID: 24351514 Free PMC article.
In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. ...
In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revea …
Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.
Tachibana M. Tachibana M. Pigment Cell Res. 1997 Feb-Apr;10(1-2):25-33. doi: 10.1111/j.1600-0749.1997.tb00462.x. Pigment Cell Res. 1997. PMID: 9170159 Review.
Instead, they contained dendritic cells that express melanogenic marker proteins such as tyrosinase and tyrosinase-related protein 1. Such properties were not observed in cells transfected with the closely related gene, TFE3. ...Two mutations (C760-->T and C895-->T) …
Instead, they contained dendritic cells that express melanogenic marker proteins such as tyrosinase and tyrosinase-related protein 1. Such p …
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Vona B, Schwartzbaum DA, Rodriguez AA, Lewis SS, Toosi MB, Radhakrishnan P, Bozan N, Akın R, Doosti M, Manju R, Duman D, Sineni CJ, Nampoothiri S, Karimiani EG, Houlden H, Bademci G, Tekin M, Girisha KM, Maroofian R, Douzgou S. Vona B, et al. J Eur Acad Dermatol Venereol. 2022 Sep;36(9):1606-1611. doi: 10.1111/jdv.18207. Epub 2022 May 25. J Eur Acad Dermatol Venereol. 2022. PMID: 35543077 Free PMC article.
BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- …
BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic he …
20 results