PMC Links for Gene (Select 6663) - PMC

Sheera R. Rosenbaum, Signe Caksa, Casey D. Stefanski, Isabella V. Trachtenberg, Haley P. Wilson, Nicole A. Wilski, Connor A. Ott, Timothy J. Purwin, Jelan I. Haj, Danielle Pomante, Daniel Kotas, Inna Chervoneva, Claudia Capparelli, Andrew E. Aplin

Mol Cancer Res. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Mol Cancer Res. 2024 Feb 1; 22(2): 209–220. doi: 10.1158/1541-7786.MCR-23-0290

PMCID:: PMC10842433

Abstract Article PDF–2.5M

Select item 107089344.

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs

Erik A Williams, Ajay Ravindranathan, Rohit Gupta, Nicholas O Stevers, Abigail K Suwala, Chibo Hong, Somang Kim, Jimmy Bo Yuan, Jasper Wu, Jairo Barreto, Calixto-Hope G Lucas, Emily Chan, Melike Pekmezci, Philip E LeBoit, Thaddeus Mully, Arie Perry, Andrew Bollen, Jessica Van Ziffle, W Patrick Devine, Alyssa T Reddy, Nalin Gupta, Kristen M Basnet, Robert J B Macaulay, Patrick Malafronte, Han Lee, William H Yong, Kevin Jon Williams, Tareq A Juratli, Douglas A Mata, Richard S P Huang, Matthew C Hiemenz, Dean C Pavlick, Garrett M Frampton, Tyler Janovitz, Jeffrey S Ross, Susan M Chang, Mitchel S Berger, Line Jacques, Jun S Song, Joseph F Costello, David A Solomon

Neuro Oncol. 2023 Dec; 25(12): 2221–2236. Published online 2023 Jul 12. doi: 10.1093/neuonc/noad121

PMCID:: PMC10708934

Abstract Article PDF–7.2M

Select item 106279755.

Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis

Merryl Terry, Rohit Gupta, Ajay Ravindranathan, Jasper Wu, Emily Chan, Andrew W. Bollen, Susan M. Chang, Mitchel S. Berger, Line Jacques, David A. Solomon

Acta Neuropathol. 2023; 146(6): 857–860. Published online 2023 Oct 11. doi: 10.1007/s00401-023-02641-6

PMCID:: PMC10627975

Article PDF–1.0M

Select item 89271616.

Targeting SOX10-deficient cells to reduce the dormant-invasive phenotype state in melanoma

Claudia Capparelli, Timothy J. Purwin, McKenna Glasheen, Signe Caksa, Manoela Tiago, Nicole Wilski, Danielle Pomante, Sheera Rosenbaum, Mai Q. Nguyen, Weijia Cai, Janusz Franco-Barraza, Richard Zheng, Gaurav Kumar, Inna Chervoneva, Ayako Shimada, Vito W. Rebecca, Adam E. Snook, Kim Hookim, Xiaowei Xu, Edna Cukierman, Meenhard Herlyn, Andrew E. Aplin

Nat Commun. 2022; 13: 1381. Published online 2022 Mar 16. doi: 10.1038/s41467-022-28801-y

PMCID:: PMC8927161

Abstract Article PDF–4.5M

Select item 87882587.

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function

Veronique Pingault, Lisa Zerad, William Bertani-Torres, Nadege Bondurand

J Med Genet. 2022 Feb; 59(2): 105–114. Published online 2021 Oct 19. doi: 10.1136/jmedgenet-2021-108105

PMCID:: PMC8788258

Abstract Article PDF–1.5M

Select item 86783518.

SOX10 regulates melanoma immunogenicity through an IRF4-IRF1 axis

Satoru Yokoyama, Atsushi Takahashi, Ryota Kikuchi, Soshi Nishibu, Jennifer Lo, Miroslav Hejna, Wooyoung M. Moon, Shinichiro Kato, Yue Zhou, F. Stephen Hodi, Jun S. Song, Hiroaki Sakurai, David E. Fisher, Yoshihiro Hayakawa

Cancer Res. Author manuscript; available in PMC 2022 Jun 15.

Published in final edited form as: Cancer Res. 2021 Dec 15; 81(24): 6131–6141. Published online 2021 Nov 2. doi: 10.1158/0008-5472.CAN-21-2078

PMCID:: PMC8678351

Abstract Article PDF–1.9M

Select item 83977719.

SOX10 ablation severely impairs the generation of postmigratory neural crest from human pluripotent stem cells

Xingqiang Lai, Jia Liu, Zhengwei Zou, Yina Wang, Ye Wang, Xiao Liu, Weijun Huang, Yuanchen Ma, Qian Chen, Fugui Li, Guifu Wu, Weiqiang Li, Weijia Wang, Yong Yuan, Boxiong Jiang

Cell Death Dis. 2021 Sep; 12(9): 814. Published online 2021 Aug 27. doi: 10.1038/s41419-021-04099-4

PMCID:: PMC8397771

Abstract Article PDF–11M

Select item 833579110.

Phenotypic continuum between Waardenburg syndrome and Idiopathic Hypogonadotropic Hypogonadism in humans with SOX10 mutations

Rebecca A. Rojas, Anna A. Kutateladze, Lacey Plummer, Maria Stamou, David L. Keefe, Jr, Kathyrn B. Salnikov, Angela Delaney, Janet E. Hall, Ruslan Sadreyev, Fei Ji, Eric Fliers, Katarina Gambosova, Richard Quinton, Paulina M Merino, Veronica Mericq, Stephanie B Seminara, William F. Crowley, Jr, Ravikumar Balasubramanian

Genet Med. Author manuscript; available in PMC 2021 Aug 4.

Published in final edited form as: Genet Med. 2021 Apr; 23(4): 629–636. Published online 2021 Jan 13. doi: 10.1038/s41436-020-01051-3

Correction in:: Genet Med. 2023 Jun; 25(6): 100855.

PMCID:: PMC8335791

Abstract Article PDF–504K

Select item 821798611.

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene

Li Li, Jing Ma, Xiao-li He, Yuan-tao Zhou, Yu Zhang, Quan-dong Chen, Lin Zhang, Biao Ruan, Tie-Song Zhang

Biosci Rep. 2021 Jun 25; 41(6): BSR20193375. Published online 2021 Jun 18. doi: 10.1042/BSR20193375

PMCID:: PMC8217986

Abstract Article PDF–1.5M

Select item 812699112.

Clinicopathological, immunohistochemical and molecular correlation of neural crest transcription factor SOX10 expression in triple-negative breast carcinoma

Aparna Harbhajanka, Satyapal Chahar, Kristy Miskimen, Paula Silverman, Lyndsay Harris, Nicole Williams, Vinay Varadan, Hannah Gilmore

Hum Pathol. Author manuscript; available in PMC 2021 May 17.

Published in final edited form as: Hum Pathol. 2018 Oct; 80: 163–169. Published online 2018 Jun 9. doi: 10.1016/j.humpath.2018.06.007

PMCID:: PMC8126991

Abstract Article PDF–937K

Select item 796457913.

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations

M. Elmaleh-Bergès, C. Baumann, N. Noël-Pétroff, A. Sekkal, V. Couloigner, K. Devriendt, M. Wilson, S. Marlin, G. Sebag, V. Pingault

AJNR Am J Neuroradiol. 2013 Jun; 34(6): 1257–1263. doi: 10.3174/ajnr.A3367

PMCID:: PMC7964579

Abstract Article PDF–897K

Select item 774917814.

Glioblastoma epigenome profiling identifies SOX10 as a master regulator of molecular tumour subtype

Yonghe Wu, Michael Fletcher, Zuguang Gu, Qi Wang, Barbara Costa, Anna Bertoni, Ka-Hou Man, Magdalena Schlotter, Jörg Felsberg, Jasmin Mangei, Martje Barbus, Ann-Christin Gaupel, Wei Wang, Tobias Weiss, Roland Eils, Michael Weller, Haikun Liu, Guido Reifenberger, Andrey Korshunov, Peter Angel, Peter Lichter, Carl Herrmann, Bernhard Radlwimmer

Nat Commun. 2020; 11: 6434. Published online 2020 Dec 18. doi: 10.1038/s41467-020-20225-w

PMCID:: PMC7749178

Abstract Article PDF–8.4M

Select item 770871715.

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2

Xiao-Wen Liu, Su-Yang Wang, Zhan-Kui Xing, Yi-Ming Zhu, Wen-Juan Ding, Lei Duan, Xiao Cui, Bai-Cheng Xu, Shu-Juan Li, Yu-Fen Guo

J Int Med Res. 2020 Nov; 48(11): 0300060520967540. Published online 2020 Nov 29. doi: 10.1177/0300060520967540

PMCID:: PMC7708717

Abstract Article PDF–837K

Select item 750380716.

Immunohistological Expression of SOX-10 in Triple-Negative Breast Cancer: A Descriptive Analysis of 113 Samples

Katharina Kriegsmann, Christa Flechtenmacher, Jörg Heil, Jörg Kriegsmann, Gunhild Mechtersheimer, Sebastian Aulmann, Wilko Weichert, Hans-Peter Sinn, Mark Kriegsmann

Int J Mol Sci. 2020 Sep; 21(17): 6407. Published online 2020 Sep 3. doi: 10.3390/ijms21176407

PMCID:: PMC7503807

Abstract Article PDF–1012K

Select item 747478417.

Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10

Xiaoyu Yu, Yun Lin, Hao Wu

Neural Plast. 2020; 2020: 8860837. Published online 2020 Aug 28. doi: 10.1155/2020/8860837

PMCID:: PMC7474784

Abstract Article PDF–886K

Select item 716735318.

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

Elizabeth A. Burke, Kyle E. Reichard, Lynne A. Wolfe, Brian P. Brooks, John J. DiGiovanna, Donald W. Hadley, Tanya J. Lehky, Andrea L. Gropman, Cynthia J. Tifft, William A. Gahl, Camilo Toro, David Adams

Am J Med Genet A. Author manuscript; available in PMC 2021 May 1.

Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1278–1283. Published online 2020 Mar 9. doi: 10.1002/ajmg.a.61542

PMCID:: PMC7167353

Abstract Article PDF–339K

Select item 697055719.

Efficacy of Sox10 Promoter Methylation in the Diagnosis of Intestinal Neuronal Dysplasia From the Peripheral Blood

Yu-Rong Liu, Fang Ba, Lan-Jie Cheng, Xu Li, Shi-Wei Zhang, Shu-Cheng Zhang

Clin Transl Gastroenterol. 2019 Dec; 10(12): e00093. Published online 2019 Dec 2. doi: 10.14309/ctg.0000000000000093

PMCID:: PMC6970557

Abstract Article PDF–1.1M

Select item 672501120.

DNA Methylation Status of SOX10 Correlates with Its Downregulation and Oligodendrocyte Dysfunction in Schizophrenia

Kazuya Iwamoto, Miki Bundo, Kazuo Yamada, Hitomi Takao, Yoshimi Iwayama-Shigeno, Takeo Yoshikawa, Tadafumi Kato

J Neurosci. 2005 Jun 1; 25(22): 5376–5381. doi: 10.1523/JNEUROSCI.0766-05.2005

PMCID:: PMC6725011

Abstract Article PDF–411K

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