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Items: 1 to 20 of 41

1.
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan
BMC Med Genomics. 2024; 17: 4. Published online 2024 Jan 2. doi: 10.1186/s12920-023-01777-4
PMCID:
PMC10763153
AbstractArticlePDF–2.6M
2.
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families
Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlili
Hum Genomics. 2023; 17: 42. Published online 2023 May 15. doi: 10.1186/s40246-023-00489-1
PMCID:
PMC10186809
AbstractArticlePDF–2.0M
3.
Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss
Luming Wang, Yue Zhang, Qiuxia Xue, Pinghua Huang, Xiaodan Liu
J Clin Lab Anal. 2022 Oct; 36(10): e24653. Published online 2022 Aug 10. doi: 10.1002/jcla.24653
PMCID:
PMC9551133
AbstractArticlePDF–5.2M
4.
Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
Ying Fu, Shasha Huang, Xue Gao, Mingyu Han, Guojian Wang, Dongyang Kang, Yongyi Yuan, Pu Dai
BMC Med Genomics. 2022; 15: 71. Published online 2022 Mar 26. doi: 10.1186/s12920-022-01201-3
PMCID:
PMC8962197
AbstractArticlePDF–1.3M
5.
Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry
Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang
Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118
PMCID:
PMC8364181
AbstractArticlePDF–3.0M
6.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A. Kenna, Andrea M. Oza, Katherine Lafferty, Sami S. Amr, Heidi L. Rehm, Diana L. Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C. Morton, Sholem Y. Scher, Josef Ekstein, Karen B. Avraham, Richard J. H. Smith, Jun Shen
Eur J Hum Genet. 2021 Jun; 29(6): 988–997. Published online 2021 Jan 4. doi: 10.1038/s41431-020-00790-w
PMCID:
PMC8187401
AbstractArticlePDF–1.7M
7.
Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss
Xiao-Hui Wang, Le Xie, Sen Chen, Kai Xu, Xue Bai, Yuan Jin, Yue Qiu, Xiao-Zhou Liu, Yu Sun, Wei-Jia Kong
Neural Plast. 2021; 2021: 9957712. Published online 2021 May 14. doi: 10.1155/2021/9957712
PMCID:
PMC8140830
AbstractArticlePDF–814K
8.
The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness
Fangfang Jiang, Yasuharu Takagi, Arik Shams, Sarah M. Heissler, Thomas B. Friedman, James R. Sellers, Jonathan E. Bird
J Biol Chem. 2021 Jan-Jun; 296: 100243. Published online 2021 Jan 9. doi: 10.1074/jbc.RA120.014903
PMCID:
PMC7948958
AbstractArticlePDF–1.9M
9.
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon
Ambroise Wonkam, Noluthando Manyisa, Christian D Bope, Collet Dandara, Emile R Chimusa
Hum Mol Genet. 2020 Dec 1; 29(23): 3729–3743. Published online 2020 Oct 20. doi: 10.1093/hmg/ddaa225
PMCID:
PMC7861016
AbstractArticlePDF–1.2M
10.
Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees
Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian, Samira Asgharzade
BMC Med Genet. 2020; 21: 226. Published online 2020 Nov 18. doi: 10.1186/s12881-020-01168-x
PMCID:
PMC7672957
AbstractArticlePDF–1.0M
11.
Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis
Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani
Oncogene. Author manuscript; available in PMC 2020 Sep 29.
Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9
PMCID:
PMC7523706
AbstractArticlePDF–2.3M
12.
Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families
Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang
Neural Plast. 2020; 2020: 8872185. Published online 2020 Aug 1. doi: 10.1155/2020/8872185
PMCID:
PMC7416276
AbstractArticlePDF–1.0M
13.
Synthetic lethal and resistance interactions with BET bromodomain inhibitors in triple-negative breast cancer
Shaokun Shu, Hua-Jun Wu, Jennifer Y. Ge, Rhamy Zeid, Isaac S. Harris, Bojana Jovanović, Katherine Murphy, Binbin Wang, Xintao Qiu, Jennifer E. Endress, Jaime Reyes, Klothilda Lim, Alba Font-Tello, Sudeepa Syamala, Tengfei Xiao, Chandra Sekhar Reddy Chilamakuri, Evangelia K. Papachristou, Clive D’Santos, Jayati Anand, Kunihiko Hinohara, Wei Li, Thomas O. McDonald, Adrienne Luoma, Rebecca J. Modiste, Quang-De Nguyen, Brittany Michel, Paloma Cejas, Cigall Kadoch, Jacob D. Jaffe, Kai W. Wucherpfennig, Jun Qi, X. Shirley Liu, Henry Long, Myles Brown, Jason S. Carroll, Joan S. Brugge, James Bradner, Franziska Michor, Kornelia Polyak
Mol Cell. Author manuscript; available in PMC 2021 Jun 18.
Published in final edited form as: Mol Cell. 2020 Jun 18; 78(6): 1096–1113.e8. Published online 2020 May 15. doi: 10.1016/j.molcel.2020.04.027
PMCID:
PMC7306005
AbstractArticlePDF–3.2M
14.
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim
BMC Med Genet. 2020; 21: 1. Published online 2020 Jan 2. doi: 10.1186/s12881-019-0942-4
PMCID:
PMC6941291
AbstractArticlePDF–1.2M
15.
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population
Chen-Chi Wu, Cheng-Yu Tsai, Yi-Hsin Lin, Pey-Yu Chen, Pei-Hsuan Lin, Yen-Fu Cheng, Che-Ming Wu, Yin-Hung Lin, Chee-Yee Lee, Jargalkhuu Erdenechuluun, Tien-Chen Liu, Pei-Lung Chen, Chuan-Jen Hsu
Genes (Basel) 2019 Oct; 10(10): 772. Published online 2019 Oct 1. doi: 10.3390/genes10100772
PMCID:
PMC6826657
AbstractArticlePDF–861K
16.
Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing
Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan
Mol Genet Genomic Med. 2019 Aug; 7(8): e808. Published online 2019 Jun 28. doi: 10.1002/mgg3.808
PMCID:
PMC6687625
AbstractArticlePDF–1.3M
17.
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang
BMC Med Genet. 2019; 20: 60. Published online 2019 Apr 5. doi: 10.1186/s12881-019-0790-2
PMCID:
PMC6451310
AbstractArticlePDF–6.6M
18.
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness
Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi
BMC Med Genet. 2018; 19: 29. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0541-9
PMCID:
PMC6389081
AbstractArticlePDF–1.3M
19.
A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report
Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang, Shayan Wang
BMC Med Genet. 2018; 19: 133. Published online 2018 Aug 1. doi: 10.1186/s12881-018-0657-y
PMCID:
PMC6090657
AbstractArticlePDF–2.0M
20.
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang
Neural Plast. 2018; 2018: 5898025. Published online 2018 Apr 5. doi: 10.1155/2018/5898025
PMCID:
PMC5907479
AbstractArticlePDF–1.1M

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