Zobrazeno 1 - 10
of 1 776
pro vyhledávání: '"David A. Goldstein"'
Autor:
Abhinav Thakral, John JW. Lee, Tianzhichao Hou, Katrina Hueniken, Tom Dudding, Mark Gormley, Shama Virani, Andrew Olshan, Brenda Diergaarde, Andrew R. Ness, Tim Waterboer, Karl Smith-Byrne, Paul Brennan, D. Neil Hayes, Eleanor Sanderson, M. Catherine Brown, Sophie Huang, Scott V. Bratman, Anna Spreafico, John De Almeida, Joel C. Davies, Laura Bierut, Gary J. Macfarlane, Pagona Lagiou, Areti Lagiou, Jerry Polesel, Antonio Agudo, Laia Alemany, Wolfgang Ahrens, Claire M. Healy, David I. Conway, Mari Nygard, Cristina Canova, Ivana Holcatova, Lorenzo Richiardi, Ariana Znaor, David P. Goldstein, Rayjean J. Hung, Wei Xu, Geoffrey Liu, Osvaldo Espin-Garcia
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-9 (2024)
Abstract HPV-positive and HPV-negative head and neck squamous cell carcinoma (HNSCC) are recognized as distinct entities. There remains uncertainty surrounding the causal effects of smoking and alcohol on the development of these two cancer types. He
Externí odkaz:
https://doaj.org/article/d3d477a5f0674925ba9467f628ee8ad5
Autor:
Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane A. Martins Moreno, Zhong Ren, Hemali Phatnani, The New York Genome Center ALS Sequencing Consortium, Timothy J. Aitman, Javier Santoyo-Lopez, Scottish Genomes Partnership, Hiroshi Mitsumoto, ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators, David B. Goldstein, Matthew B. Harms
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-11 (2024)
Abstract Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts
Externí odkaz:
https://doaj.org/article/77b804dfb5a346ffb655ea53c881d520
Autor:
Brian Walitt, Komudi Singh, Samuel R. LaMunion, Mark Hallett, Steve Jacobson, Kong Chen, Yoshimi Enose-Akahata, Richard Apps, Jennifer J. Barb, Patrick Bedard, Robert J. Brychta, Ashura Williams Buckley, Peter D. Burbelo, Brice Calco, Brianna Cathay, Li Chen, Snigdha Chigurupati, Jinguo Chen, Foo Cheung, Lisa M. K. Chin, Benjamin W. Coleman, Amber B. Courville, Madeleine S. Deming, Bart Drinkard, Li Rebekah Feng, Luigi Ferrucci, Scott A. Gabel, Angelique Gavin, David S. Goldstein, Shahin Hassanzadeh, Sean C. Horan, Silvina G. Horovitz, Kory R. Johnson, Anita Jones Govan, Kristine M. Knutson, Joy D. Kreskow, Mark Levin, Jonathan J. Lyons, Nicholas Madian, Nasir Malik, Andrew L. Mammen, John A. McCulloch, Patrick M. McGurrin, Joshua D. Milner, Ruin Moaddel, Geoffrey A. Mueller, Amrita Mukherjee, Sandra Muñoz-Braceras, Gina Norato, Katherine Pak, Iago Pinal-Fernandez, Traian Popa, Lauren B. Reoma, Michael N. Sack, Farinaz Safavi, Leorey N. Saligan, Brian A. Sellers, Stephen Sinclair, Bryan Smith, Joseph Snow, Stacey Solin, Barbara J. Stussman, Giorgio Trinchieri, Sara A. Turner, C. Stephenie Vetter, Felipe Vial, Carlotta Vizioli, Ashley Williams, Shanna B. Yang, Center for Human Immunology, Autoimmunity, and Inflammation (CHI) Consortium, Avindra Nath
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-29 (2024)
Abstract Post-infectious myalgic encephalomyelitis/chronic fatigue syndrome (PI-ME/CFS) is a disabling disorder, yet the clinical phenotype is poorly defined, the pathophysiology is unknown, and no disease-modifying treatments are available. We used
Externí odkaz:
https://doaj.org/article/a14b918b7de649e6975c4ac14fdd7aa8
Autor:
Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R. Shea, Emily E. Groopman, Amanda Thomas-Wilson, Enrico Cocchi, Hila Milo Rasouly, Beishi Zheng, Siming Sun, Junying Zhang, Mercedes Martinez, Jennifer M. Vittorio, Lorna M. Dove, Maddalena Marasa, Timothy C. Wang, Elizabeth C. Verna, Howard J. Worman, Ali G. Gharavi, David B. Goldstein, Julia Wattacheril
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We developed a curated list of 502 genes for monogenic disorders ass
Externí odkaz:
https://doaj.org/article/60ca957afd764dd68969b0452f5f9ddb
Autor:
Yask Gupta, David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L. Knob, Tze Y. Lim, Gerald B. Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C. Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J. Cohen, Russell J. Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K. Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J. Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R. Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K. Dube, Ninad S. Chaudhary, Orlando M. Gutiérrez, Suzanne E. Judd, Mary Cushman, Leslie A. Lange, Ethan M. Lange, Daniel L. Bivona, Miguel Verbitsky, Cheryl A. Winkler, Jeffrey B. Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes e Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D. D’Agati, Riccardo Magistroni, Eimear E. Kenny, Ruth J. F. Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S. Paul, Slavé Petrovski, David B. Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G. Gharavi, Krzysztof Kiryluk, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-8 (2023)
Abstract African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this di
Externí odkaz:
https://doaj.org/article/9f6233ad88a44f828fd1c0264b712139
Autor:
Alejandro M. Chibly, Vaishali N. Patel, Marit H. Aure, Mary C. Pasquale, NIDCD/NIDCR Genomics and Computational Biology Core, Gemma E. Martin, Mousa Ghannam, Julianne Andrade, Noah G. Denegre, Colleen Simpson, David P. Goldstein, Fei-Fei Liu, Isabelle M. A. Lombaert, Matthew P. Hoffman
Publikováno v:
npj Regenerative Medicine, Vol 8, Iss 1, Pp 1-16 (2023)
Abstract The mechanisms that prevent regeneration of irradiated (IR) salivary glands remain elusive. Bulk RNAseq of IR versus non-IR human salivary glands showed that neurotrophin signaling is highly disrupted post-radiation. Neurotrophin receptors (
Externí odkaz:
https://doaj.org/article/129281bde15944a19f2677ecbebb4c69
Autor:
Sarah A Dugger, Ryan S Dhindsa, Gabriela De Almeida Sampaio, Andrew K Ressler, Elizabeth E Rafikian, Sabrina Petri, Verity A Letts, JiaJie Teoh, Junqiang Ye, Sophie Colombo, Yueqing Peng, Mu Yang, Michael J Boland, Wayne N Frankel, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 19, Iss 10, p e1010952 (2023)
Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targ
Externí odkaz:
https://doaj.org/article/93dac0bdf894409681fb60b44fc34f59
Autor:
Sophie Colombo, Haritha P. Reddy, Sabrina Petri, Damian J. Williams, Boris Shalomov, Ryan S. Dhindsa, Sahar Gelfman, Daniel Krizay, Amal K. Bera, Mu Yang, Yueqing Peng, Christopher D. Makinson, Michael J. Boland, Wayne N. Frankel, David B. Goldstein, Nathan Dascal
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
De novo mutations in GNB1, encoding the Gβ1 subunit of G proteins, cause a neurodevelopmental disorder with global developmental delay and epilepsy, GNB1 encephalopathy. Here, we show that mice carrying a pathogenic mutation, K78R, recapitulate aspe
Externí odkaz:
https://doaj.org/article/dac698f6f6cf4d51b12011c167d1b0e2
Autor:
Tamar Sapir, Aditya Kshirsagar, Anna Gorelik, Tsviya Olender, Ziv Porat, Ingrid E. Scheffer, David B. Goldstein, Orrin Devinsky, Orly Reiner
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
HNRNPU is an RNA splicing protein associated with brain disorders such as early onset seizures. Here they show that HNRNPU functions to maintain neural progenitors and their progeny by regulating splicing of key neuronal genes.
Externí odkaz:
https://doaj.org/article/b79fbbfd33ea4996851afbb74dc44821
Publikováno v:
Translational Neurodegeneration, Vol 11, Iss 1, Pp 1-10 (2022)
Abstract Background Parkinson’s disease (PD) is characterized by intra-neuronal deposition of the protein α-synuclein (α-syn) and by deficiencies of the catecholamines dopamine and norepinephrine (NE) in the brain and heart. Accumulation of α-sy
Externí odkaz:
https://doaj.org/article/12e001006472434fa885c096d0f7e646