Results 111 to 120 of about 142,271 (283)

Pharmacological approaches for targeting cystic fibrosis nonsense mutations

European Journal of Medicinal Chemistry, 2020
Cystic fibrosis (CF) is a monogenic autosomal recessive disorder. The clinical manifestations of the disease are caused by ∼2,000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. It is unlikely that any one approach will be efficient in correcting all defects.
Jyoti, Sharma, Kim M, Keeling, Steven M, Rowe   +2 more
openaire   +3 more sources

Droplet Digital CRISPR for Nucleic Acid Detection

Advanced Science, EarlyView.
This review outlines recent advances in droplet digital CRISPR technology for nucleic acid detection, combining CRISPR specificity with droplet digital‐based absolute quantification. It summarizes core principles, amplification‐assisted and amplification‐free strategies, and representative DNA and RNA biomarker applications.
Yang Zhang, Roy S. K. Walker, Anwar Sunna, Tracie J. Barber, Ming Li   +4 more
wiley   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

An engineered Tetrahymena tRNA(Gln) for in vivo incorporation of unnatural amino acids into proteins by nonsense suppression [PDF]

, 1996
A new tRNA, THG73, has been designed and evaluated as a vehicle for incorporating unnatural amino acids site-specifically into proteins expressed in vivo using the stop codon suppression technique.
Abelson, John N., Dougherty, Dennis A., Du, Fangyong, Kearney, Patrick C., Lester, Henry A., Nowak, Mark W., Saks, Margaret E., Sampson, Jeffrey R.   +7 more
core   +1 more source

Cellpose+, a Morphological Analysis Tool for Feature Extraction of Stained Cell Images

Advanced Intelligent Discovery, EarlyView.
We introduce Cellpose plus, a morphological and geometrical analysis tool for feature extraction of stained cell images built over Cellpose, a state‐of‐the‐art cell segmentation framework. We also introduce a dataset of DAPI and FITC stained cells to which our new method is applied.
Israel A. Huaman, Fares D. E. Ghorabe, Sofya S. Chumakova, Alexandra A. Pisarenko, Alexey E. Dudaev, Tatiana G. Volova, Galina A. Ryltseva, Sviatlana A. Ulasevich, Ekaterina I. Shishatskaya, Ekaterina V. Skorb, Pavel S. Zun   +10 more
wiley   +1 more source

Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]

, 2016
Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar, Alfinito, Avasthi, Bachmann-Gagescu, Baker, Beech, Brockerhoff, Cao, Deacon, Eblimit, Goetz, Huang, Insinna, Insinna, Insinna, Jiang, Jimeno, Jimeno, Kodani, Krock, Lopes, Louie, Makhankov, Marszalek, Marszalek, Muresan, Muresan, Nascimento, Nonaka, Pazour, Ryan, Scholey, Shu, Stearns, Sukumaran, Traverso, Trivedi, Tsujikawa, Tuma, Westerfield, Whitehead, Wolfrum, Yamazaki, Yang, Zhao   +44 more
core   +2 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

An Expanded Toolbox for Versatile Chemical Editing of Adeno‐Associated Virus

Angewandte Chemie, EarlyView.
We describe technology to introduce diverse non‐natural chemical functionalities site‐specifically into the capsid of adeno‐associated virus through genetic code expansion, and using them to engineer this leading vector for human gene therapy for enhanced tissue specificity and reduced immunogenicity Abstract Site‐specific incorporation of noncanonical
Quan Pham, Jake Glicksman, Boyang Han, David Koo, Conor Loynd, Soumya Jyoti Singha Roy, Abhishek Chatterjee   +6 more
wiley   +2 more sources

Genetic regulation of pituitary gland development in human and mouse [PDF]

, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Aarskog, Acampora, Agarwal, Aijaz, Alba, Ambrosetti, Ambrosetti, Andersen, Andersen, Andersen, Andoniadou, Arroyo, Asteria, Avilion, Bach, Bakrania, Bao, Barnhart, Bartke, Bartke, Bhangoo, Bhati, Bilodeau, Blankenstein, Bodner, Boncinelli, Bonnefont, Böttner, Briata, Brickman, Brinkmeier, Brinkmeier, Brown, Brown, Cai, Carvalho, Castinetti, Cattanach, Cha, Charles, Charles, Chassaing, Chatelain, Chen, Chou, Christian, Cogan, Cohen, Cohen, Cohen, Cohen, Corneli, Couly, Couly, Coya, Cushman, Cushman, Daikoku, Daniel Kelberman, Dasen, Dasen, Dateki, Dattani, Davis, De Moerlooze, de Zegher, Deladoëy, Diaczok, Dodé, Douglas, Driever, Drouin, Duquesnoy, Dutta, Ellsworth, Ericson, Ezzat, Faivre, Falardeau, Fantes, Fauquier, Ferrand, Ferri, Flück, Fofanova, Fofanova, Fofanova, Gage, Gage, Gage, Gage, Gaston-Massuet, Gat-Yablonski, Gat-Yablonski, Gleiberman, Gleiberman, Gordon, Granger, Guichet, Hagstrom, Hamel, Hashimoto, Hayward, Hendriks-Stegeman, Hermesz, Hertzano, Himes, Hol, Holl, Hökfelt, Huang, Hui, Hume, Iain C. A. F. Robinson, Idrees, Ikeda, Ingraham, Irie, Japón, Jean, Kan, Karine Rizzoti, Kawamura, Kawamura, Kelberman, Kelberman, Kelberman, Kimura, Kioussi, Kishimoto, Kita, Kitamura, Kouki, Kriström, Kurokawa, Kurokawa, Lagerström-Fermér, Lamolet, Lamonerie, Lanctôt, Lanctôt, Laumonnier, Le Tissier, Lebl, Lemos, Li, Li, Li, Li, Lim, Lin, Lin, Lindsay, Liu, Lourenço, López-Ríos, Lu, Luo, Machinis, Machinis, Malvagia, Mansukhani, Martinez-Barbera, McGillivray, McLennan, McNay, Mehul T. Dattani, Mendonca, Metherell, Miyata, Morceau, Murray, Naiche, Nasonkin, Netchine, Ngan, Nolen, Norlin, Nose, Nudi, Ohta, Ohuchi, Okamoto, Olson, Olson, Osorio, Osumi-Yamashita, Pabst, Paracchini, Parkin, Parks, Patel, Pellegrini-Bouiller, Pernasetti, Pernasetti, Pfaeffle, Pfaeffle, Pfaffle, Pfäffle, Phillips 3rd, Pitteloud, Pogoda, Potok, Poulin, Pulichino, Pulichino, Qi, Quentien, Radovick, Raetzman, Raetzman, Raetzman, Ragge, Ragge, Rainbow, Rajab, Raverot, Rayapureddi, Reynaud, Reynaud, Rhinn, Rhodes, Rhodes, Riepe, Rizzoti, Rizzoti, Rizzoti, Robin Lovell-Badge, Rodrigues Martineli, Roessler, Roessler, Rubenstein, Sadovsky, Sajedi, Sajedi, Salemi, Salisbury, Sato, Savage, Scaffidi, Semina, Semina, Semina, Sheng, Sheng, Sheng, Sheng, Shinkai, Shinoda, Simmons, Sisodiya, Sloop, Sloop, Sloop, Snabboon, Sobrier, Sobrier, Sobrier, Sornson, Stahl, Steger, Suh, Sun, Susa, Szeto, Szeto, Tajima, Tajima, Tajima, Takuma, Tang, Tatsumi, Tatsumi, Thomas, Thomas, Thomas, Thomas, Tierney, Tootle, Treier, Treier, Tremblay, Tremblay, Tremblay, Tremblay, Tsai, Turton, Turton, Urs, Vallette-Kasic, Vallette-Kasic, Vesper, Vieira, Vieira, Vimpani, Voutetakis, Voutetakis, Wales, Ward, Ward, Ward, Watanabe, Watanabe, Weintrob, Weiss, West, Williamson, Winnier, Wit, Wood, Woods, Wu, Wyatt, Xu, Yamada, Zenteno, Zhang, Zhao, Zhao, Zhu, Zhu, Zorn   +321 more
core   +2 more sources

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source