PMC Links for GEO Profiles (Select 119836973) - PMC

Result Filters

Links from GEO Profiles

Items: 1 to 20 of 41

<< First< Prev

Page of 3

Next >Last >>

Select item 107631531.

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

Abstract Article PDF–2.6M

Select item 101868092.

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

Abstract Article PDF–2.0M

Select item 95511333.

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

Abstract Article PDF–5.2M

Select item 89621974.

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

Abstract Article PDF–1.3M

Select item 83641815.

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

Abstract Article PDF–3.0M

Select item 81874016.

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

Abstract Article PDF–1.7M

Select item 81408307.

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

Abstract Article PDF–814K

Select item 79489588.

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

Abstract Article PDF–1.9M

Select item 78610169.

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

Abstract Article PDF–1.2M

Select item 767295710.

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

Abstract Article PDF–1.0M

Select item 752370611.

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

Abstract Article PDF–2.3M

Select item 741627612.

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

Abstract Article PDF–1.0M

Select item 730600513.

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

Abstract Article PDF–3.2M

Select item 694129114.

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

Abstract Article PDF–1.2M

Select item 682665715.

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