Article
Cell Biology
Gang Liu, Hui Zhao, Qiang Song, Guangmeng Li, Shuying Lin, Sheng Xiong
Summary: The study demonstrates that DPP10-AS1 inhibits CCSC proliferation by regulating miR-127-3p and ADCY1, providing a promising new treatment strategy for colon cancer. Low expression of DPP10-AS1 is associated with the aggressiveness of colon cancer.
Article
Multidisciplinary Sciences
Amar J. Majmundar, Florian Buerger, Thomas A. Forbes, Verena Klambt, Ronen Schneider, Konstantin Deutsch, Thomas M. Kitzler, Sara E. Howden, Michelle Scurr, Ker Sin Tan, Mickael Krzeminski, Eugen Widmeier, Daniela A. Braun, Ethan Lai, Ihsan Ullah, Ali Amar, Amy Kolb, Kaitlyn Eddy, Chin Heng Chen, Daanya Salmanullah, Rufeng Dai, Makiko Nakayama, Isabel Ottlewski, Caroline M. Kolvenbach, Ana C. Onuchic-Whitford, Youying Mao, Nina Mann, Marwa M. Nabhan, Seymour Rosen, Julie D. Forman-Kay, Neveen A. Soliman, Andreas Heilos, Renate Kain, Christoph Aufricht, Shrikant Mane, Richard P. Lifton, Shirlee Shril, Melissa H. Little, Friedhelm Hildebrandt
Summary: Recessive NOS1AP variants impair CDC42/DIAPH-dependent actin remodeling, causing aberrant organoid glomerulogenesis, and leading to glomerulopathy in both humans and mice.
Article
Environmental Sciences
Xiaobing Feng, Wenzhen Li, Man Cheng, Weihong Qiu, Ruyi Liang, Minjing Li, Weihong Chen, Dongming Wang
Summary: This study found a significant positive dose-response relationship between speech-frequency hearing loss and total mortality, with moderate to severe speech-frequency hearing loss significantly elevating the risk of heart disease mortality. Additionally, hearing thresholds above 25 dB at 500, 1000, or 2000 Hz were associated with increased mortality from all causes and specifically heart disease mortality.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Review
Cell Biology
Melanie Holmgren, Lavinia Sheets
Summary: Hair cells in the inner ear play a crucial role in hearing, but can be damaged by various factors. Mitochondria in hair cells are key in producing energy and maintaining calcium balance, and their dysfunction can lead to hearing loss. Zebrafish provide a valuable model to study hair-cell mitochondrial activity and develop therapeutic strategies for sensorineural hearing loss.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Health Care Sciences & Services
Youn Jung Kim, Yejin Lee, Wonseon Chae, Jung-Wook Kim
Summary: In this study, two families with amelogenesis imperfecta (AI) were recruited and mutational analysis was performed using whole-exome sequencing. Different mutation genes were identified by analyzing the genetic variations of the patients, providing insights into the genetic mechanisms of AI.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Cheng Wang, Xin Wang, Hao Zheng, Jia Yao, Yuqing Xiang, Dong Liu
Summary: This study reveals the crucial roles of ndrg2 in the development of hair cells (HCs) and auditory sensory function using the zebrafish model. It provides new insights into the identification of potential deafness genes and regulation mechanism of HC development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Guoli Yin, Fuping Qian, Jia Yao, Ziyang Wang, Xin Wang, Dong Liu, Cheng Wang
Summary: The ftr82 gene plays a crucial role in hearing development and function in zebrafish, and its absence results in defects in sensory hair cells and reduced sensitivity to sound stimuli. The study reveals that ftr82 regulates the morphogenesis of hair cells and is a potential target for identifying deafness genes.
JOURNAL OF GENETICS AND GENOMICS
(2023)
Article
Genetics & Heredity
Long Guo, Smrithi Salian, Jing-yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yan-min Zhang, Zhen-jie Wei, Irina Huening, Theresa Brunet, Hirofumi Ohashi, Molly F. Thomas, Caleb Bupp, Noriko Miyake, Naomichi Matsumoto, Roberto Mendoza-Londono, Gregory Costain, Gabriele Hahn, Nataliya Di Donato, Goekhan Yigit, Takahiro Yamada, Gen Nishimura, K. Mark Ansel, Bernd Wollnik, Martin Hrabe de Angelis, Andre Megarbane, Jill A. Rosenfeld, Vigo Heissmeyer, Shiro Ikegawa, Philippe M. Campeau
Summary: ERI1 is a 30-to-50 exoribonuclease involved in RNA metabolic pathways. Bi-allelic ERI1 variants are associated with a phenotypic dichotomy, causing a severe spondyloepimetaphyseal dysplasia in some individuals with missense variants, while individuals with null variants show mild intellectual disability and digital anomalies. The missense variants lead to a loss of exoribonuclease activity, resulting in defective 5.8S rRNA processing and decreased degradation of histone mRNAs. This study establishes the importance of ERI1-mediated RNA metabolism in human skeletal patterning and chondrogenesis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Cell Biology
Jie Gong, Peipei Qian, Yuebo Hu, Chao Guo, Guanyun Wei, Cheng Wang, Chengyun Cai, Haibo Wang, Dong Liu
Summary: The study revealed that claudin h plays a crucial role in the morphogenesis and auditory function of hair cells in zebrafish, with its deficiency leading to reduced otic vesicle size, hearing loss, vestibular dysfunction, as well as decreased hair cell number and apoptosis in neuromasts.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Neurosciences
Erin Jimenez, Claire C. Slevin, Luis Colon-Cruz, Shawn M. Burgess
Summary: Millions of Americans suffer from hearing or balance disorders due to the loss of hair cells in the inner ear. Research on transgenic zebrafish has shown that hair cells can regenerate in vivo after induced ablation, indicating potential for future treatments.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Endocrinology & Metabolism
Cho Rong Han, Hui Wang, Victoria Hoffmann, Patricia Zerfas, Michael Kruhlak, Sheue-Yann Cheng
Summary: Using a zebrafish model of RTH alpha, this study demonstrated for the first time that TR alpha 1 mutants could cause abnormal heart structure, weakened contractility, and disrupted sarcomere organization, affecting heart functions.
Article
Geriatrics & Gerontology
Jun Wang, Dan Liu, E. Tian, Zhao-Qi Guo, Jing-Yu Chen, Wei-Jia Kong, Su-Lin Zhang
Summary: This study found that hearing impairment is a risk factor for cognitive decline and all-cause mortality in older adults. Older adults with hearing impairment had a higher risk of all-cause mortality compared to those without hearing impairment. Additionally, older adults with both hearing impairment and cognitive impairment had an even greater risk of mortality.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Genetics & Heredity
Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel-Saied, Marja-Leena Vaisanen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimaki, Suzanne M. Leal
Summary: The genetic cause of hearing impairment in two Finnish families was investigated in this study. A homozygous pathogenic splice site variant in the CAPB2 gene was identified as the underlying cause of the hearing impairment.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Review
Cell Biology
Mohammad Farhadi, Ehsan Razmara, Maryam Balali, Yeganeh Hajabbas Farshchi, Masoumeh Falah
Summary: Disruptions in cellular mechanisms can lead to hearing impairment, with TMIE protein playing a critical role in maintaining sensory hair cells and being associated with hereditary deafness.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2021)
Article
Oncology
Christine T. Dinh, Si Chen, Aida Nourbakhsh, Kyle Padgett, Perry Johnson, Stefania Goncalves, Olena Bracho, Esperanza Bas, Jorge Bohorquez, Paula V. Monje, Cristina Fernandez-Valle, Nagy Elsayyad, Xuezhong Liu, Scott M. Welford, Fred Telischi
Summary: Vestibular schwannomas (VS) are benign intracranial tumors caused by loss of function of the merlin tumor suppressor. This study aimed to investigate the effects of radiation therapy on hearing loss and VS cell survival. The results showed that radiation caused progressive hearing loss and cell death in rats, and hypofractionated radiation was more effective at reducing cell viability compared to single fraction radiation.
Article
Biochemistry & Molecular Biology
Timothy J. Durham, Riza M. Daza, Louis Gevirtzman, Darren A. Cusanovich, Olubusayo Bolonduro, William Stafford Noble, Jay Shendure, Robert H. Waterston
Summary: Recent developments in single-cell technologies have allowed researchers to study cell states in Caenorhabditis elegans at a higher resolution, including gene expression patterns and chromatin accessibility. A novel implementation of the latent Dirichlet allocation algorithm has identified 37 clusters of cells corresponding to different cell types in the worm, providing new insights into cellular differentiation and gene regulation.
Article
Genetics & Heredity
Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, Thashi Bharadwaj, Khurram Liaqat, Muhammad Akram Shahzad Khokhar, Jenna L. Everard, Abdul Nasir, Deborah A. Nickerson, Michael J. Bamshad, Muhammad Ansar, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Summary: By using exome sequencing, we identified a homozygous missense variant in CDK13 in a consanguineous family with various symptoms, suggesting a potential link between this gene and an autosomal recessive disorder.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P. J. Giese, Liz M. Nouel-Saied, Abdul Nasir, Jenna L. Everard, Lana M. Pollock, Shaoyuan Zhu, Michael J. Bamshad, Deborah A. Nickerson, Raja Hussain Ali, Asmat Ullah, Abdul Wali, Ghazanfar Ali, Regie Lyn P. Santos-Cortez, Zubair M. Ahmed, Brian M. McDermott Jr, Muhammad Ansar, Saima Riazuddin, Wasim Ahmad, Suzanne M. Leal
Summary: Research on consanguineous Pakistani families identified rare homozygous missense variants in four genes associated with hearing impairment. Through linkage analysis, in silico protein analysis, and mouse inner ear tissue analysis, new candidate genes for hearing impairment were proposed, adding to our understanding of the etiology of HI.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Correction
Genetics & Heredity
Khurram Liaqat, Shabir Hussain, Muhammad Bilal, Abdul Nasir, Anushree Acharya, Raja Hussain Ali, Shoaib Nawaz, Muhammad Umair, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
JOURNAL OF HUMAN GENETICS
(2022)
Article
Pediatrics
Warda Nawal, Asmat Ullah, Ubaid Ullah, Kanza Farrakh, Farooq Ahmad, Hammal Khan, Gul Saeed Ahmad, Bushra Khan, Muhammad Ansar, Umm-e-Kalsoom, Wasim Ahmad
KLINISCHE PADIATRIE
(2022)
Article
Multidisciplinary Sciences
Vikram Agarwal, Sereno Lopez-Darwin, David R. Kelley, Jay Shendure
Summary: This study quantifies the differential usage of 3' UTR isoforms among cell types during mouse embryonic development, showing a global lengthening of 3' UTRs across all cell types with specific RNA-binding proteins (RBPs) regulating this process.
NATURE COMMUNICATIONS
(2021)
Article
Biotechnology & Applied Microbiology
Junhong Choi, Wei Chen, Chase C. Suiter, Choli Lee, Florence M. Chardon, Wei Yang, Anh Leith, Riza M. Daza, Beth Martin, Jay Shendure
Summary: The PRIME-Del method induces deletions with high precision using a pair of prime editing sgRNAs, outperforming CRISPR-Cas9 and sgRNA pairs in programming deletions up to 10 kb. This method can be broadly useful for precise, flexible programming of genomic deletions and potentially other rearrangements.
NATURE BIOTECHNOLOGY
(2022)
Letter
Biochemistry & Molecular Biology
Michael Boeckh, Helen Y. Chu, Janet A. Englund, Christina M. Lockwood, Deborah A. Nickerson, Jay Shendure, Lea Starita
Article
Genetics & Heredity
Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Summary: This study reports a new likely pathogenic variant in the PSAP gene that causes atypical Gaucher disease in a Pakistani family with prelingual profound sensorineural hearing impairment, vestibular dysfunction, hepatosplenomegaly, kyphosis, and thrombocytopenia.
Article
Hematology
Jill M. Johnsen, Shelley N. Fletcher, Angela Dove, Haley McCracken, Beth K. Martin, Martin Kircher, Neil C. Josephson, Jay Shendure, Sarah E. Ruuska, Leonard A. Valentino, Glenn F. Pierce, Crystal Watson, Dunlei Cheng, Michael Recht, Barbara A. Konkle
Summary: The findings of this study report the results of the largest hemophilia genotyping project performed to date. The results support the importance of comprehensive genetic approaches in hemophilia and contribute to a better understanding of variation in the F8 and F9 genes and the risks of inhibitor formation.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Microbiology
Maleeha Urooj, Mehreen Shoukat, Muhammad Imran, Muhammad Ansar, Rani Faryal
Summary: This study reports a comprehensive genomic profiling of an emerging colistin-resistant Klebsiella pneumoniae ST-2096 convergent clone from Pakistan, highlighting its multidrug resistance and hypermucoviscous features, potentially belonging to a high-risk lineage.
FUTURE MICROBIOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Shazia Khan, Muhammad Umair, Safdar Abbas, Uroba Ali, Gohar Zaman, Muhammad Ansar, Rongrong Wang, Xue Zhang, Henry Houlden, Gaurav V. Harlalka, Asma Gul
Summary: This study identified two novel biallelic variants in the CNTNAP1 and ADGRG1 genes in two different consanguineous families, expanding the clinical and mutation spectrum of these genes and providing further evidence of their importance in neurological development.
JOURNAL OF GENE MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P. J. Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D. Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L. S. Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L. Loeys, Hiroko Morisaki, Zubair M. Ahmed, Graeme M. Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Summary: A database containing rare variant genotypes and phenotypes of 77,539 participants sequenced by the 100,000 Genomes Project enables the identification of new disease-causing genes.
Article
Multidisciplinary Sciences
Bailey A. T. Weatherbee, Carlos W. Gantner, Lisa K. Iwamoto-Stohl, Riza M. Daza, Nobuhiko Hamazaki, Jay Shendure, Magdalena Zernicka-Goetz
Summary: By inducing stem cells, we have established a model of the human post-implantation embryo that mimics key aspects of human development and allows us to study tissue-tissue interactions. This model is important for investigating critical questions related to human post-implantation development and understanding the causes of pregnancy failure during this stage.