Regulatory Mutations in Human Hereditary Deafness

2012 ◽  
pp. 137-168
Author(s):  
Jonathan E. Bird ◽  
Thomas B. Friedman
Keyword(s):  
Hereditary Deafness ◽  
Regulatory Mutations

Ethical And Cultural Considerations In Research On Hereditary Deafness

1992 ◽  
Vol 25 (5) ◽  
pp. 973-978
Author(s):  
Kenneth M. Grundfast ◽  
Jeffrey Rosen
Keyword(s):  
Hereditary Deafness ◽  
Cultural Considerations

scholarly journals Regulatory Mutations of mir-48, a C. elegans let-7 Family MicroRNA, Cause Developmental Timing Defects

2005 ◽  
Vol 9 (3) ◽  
pp. 415-422 ◽  
Author(s):  
Ming Li ◽  
Matthew W. Jones-Rhoades ◽  
Nelson C. Lau ◽  
David P. Bartel ◽  
Ann E. Rougvie
Keyword(s):  
Developmental Timing ◽  
C Elegans ◽  
Regulatory Mutations ◽  
Timing Defects

scholarly journals Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses

2015 ◽  
Vol 48 (2) ◽  
pp. 152-158 ◽  
Author(s):  
Freyja Imsland ◽  
Kelly McGowan ◽  
Carl-Johan Rubin ◽  
Corneliu Henegar ◽  
Elisabeth Sundström ◽  
...  
Keyword(s):  
Hair Pigmentation ◽  
Regulatory Mutations

scholarly journals Evolution of the Drosophila larval trichome pattern through cis-regulatory mutations at an enhancer of a single gene

2008 ◽  
Vol 319 (2) ◽  
pp. 495
Author(s):  
Gregory K. Davis ◽  
Laura Sillers ◽  
Purak Parikh ◽  
Alistair McGregor ◽  
Virginie Orgogozo ◽  
...  
Keyword(s):  
Single Gene ◽  
Regulatory Mutations

scholarly journals Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids

2021 ◽  
Author(s):  
Daniel R. Romano ◽  
Eri Hashino ◽  
Rick F. Nelson
Keyword(s):  
Animal Models ◽  
Inner Ear ◽  
Auditory System ◽  
Hearing Aids ◽  
Molecular Mechanisms ◽  
Functional Disability ◽  
Experimental Studies ◽  
Hereditary Deafness ◽  
Human Auditory System ◽  
Human Inner Ear

AbstractSensorineural hearing loss (SNHL) is a major cause of functional disability in both the developed and developing world. While hearing aids and cochlear implants provide significant benefit to many with SNHL, neither targets the cellular and molecular dysfunction that ultimately underlies SNHL. The successful development of more targeted approaches, such as growth factor, stem cell, and gene therapies, will require a yet deeper understanding of the underlying molecular mechanisms of human hearing and deafness. Unfortunately, the human inner ear cannot be biopsied without causing significant, irreversible damage to the hearing or balance organ. Thus, much of our current understanding of the cellular and molecular biology of human deafness, and of the human auditory system more broadly, has been inferred from observational and experimental studies in animal models, each of which has its own advantages and limitations. In 2013, researchers described a protocol for the generation of inner ear organoids from pluripotent stem cells (PSCs), which could serve as scalable, high-fidelity alternatives to animal models. Here, we discuss the advantages and limitations of conventional models of the human auditory system, describe the generation and characteristics of PSC-derived inner ear organoids, and discuss several strategies and recent attempts to model hereditary deafness in vitro. Finally, we suggest and discuss several focus areas for the further, intensive characterization of inner ear organoids and discuss the translational applications of these novel models of the human inner ear.

Hereditary Deafness in the Cat

ORL ◽  
1977 ◽  
Vol 39 (4) ◽  
pp. 241-246 ◽  
Author(s):  
Hans H. Elverland ◽  
Iain W.S. Mair ◽  
Olav Borud
Keyword(s):  
Hereditary Deafness

Dinucleotide tag‐based parallel reporter gene assay method enables efficient identification of regulatory mutations

2021 ◽  
pp. 2100341
Author(s):  
Naixia Ren ◽  
Bo Li ◽  
Qingqing Liu ◽  
Lele Yang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
Reporter Gene ◽  
Reporter Gene Assay ◽  
Assay Method ◽  
Gene Assay ◽  
Regulatory Mutations
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