Zobrazeno 1 - 10
of 1 997
pro vyhledávání: '"A B, Goldstein"'
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:
Molly E. Baumann, Nina Rossa Haddad, Alyssa Salazar, W. Lee Childers, Shawn Farrokhi, Neil B. Goldstein, Brad D. Hendershot, Lisa Reider, Richard E. Thompson, Michael S. Valerio, Christopher L. Dearth, Luis A. Garza
Publikováno v:
JID Innovations, Vol 4, Iss 4, Pp 100276- (2024)
In persons with limb loss, prosthetic devices cause skin breakdown, largely because residual limb skin (nonvolar) is not intended to bear weight such as palmoplantar (volar) skin. Before evaluation of treatment efficacy to improve skin resiliency, ef
Externí odkaz:
https://doaj.org/article/5478eb289fab4a64b2a85b172f5b185b
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:
Phoebe Valdes, Kenneth W. Henry, Michael Q. Fitzgerald, Koushik Muralidharan, Andrew B. Caldwell, Srinivasan Ramachandran, Lawrence S. B. Goldstein, William C. Mobley, Douglas R. Galasko, Shankar Subramaniam
Publikováno v:
Molecular Brain, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Non-familial Alzheimer’s disease (AD) occurring before 65 years of age is commonly referred to as early-onset Alzheimer’s disease (EOAD) and constitutes ~ 5–6% of all AD cases (Mendez et al. in Continuum 25:34–51, 2019). While EOAD e
Externí odkaz:
https://doaj.org/article/3ea7c071f924471b9c2a68f75dab7070
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
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionSymptom recognition and timely access to treatment are critical components of acute stroke care systems. Two mnemonics widely used in public educational campaigns for recognizing stroke symptoms include FAST (Face-Arm-Speech-Time) and BEF
Externí odkaz:
https://doaj.org/article/32576f8d52d54a709df250807c1fd6cf
Autor:
Martin N. Kaddumukasa, Mark Kaddumukasa, Elly Katabira, Nelson Sewankambo, Lillian D. Namujju, Larry B. Goldstein
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-8 (2023)
Abstract Background Little is known about the characteristics and determinants of post-stroke cognitive impairment in residents of low- and middle-income countries. The objective of this study was to determine the frequencies, patterns, and risk fact
Externí odkaz:
https://doaj.org/article/6b41e243eff8490b993e1ca4c4ad79da
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:
Daniel Buscombe, Phillipe Wernette, Sharon Fitzpatrick, Jaycee Favela, Evan B. Goldstein, Nicholas M. Enwright
Publikováno v:
Scientific Data, Vol 10, Iss 1, Pp 1-18 (2023)
Abstract The world’s coastlines are spatially highly variable, coupled-human-natural systems that comprise a nested hierarchy of component landforms, ecosystems, and human interventions, each interacting over a range of space and time scales. Under
Externí odkaz:
https://doaj.org/article/45d678cc93a240f8a63e5767197bb636
Autor:
Nirmal Verma, Gopal Viswanathan Velmurugan, Edric Winford, Han Coburn, Deepak Kotiya, Noah Leibold, Laura Radulescu, Sanda Despa, Kuey C. Chen, Linda J. Van Eldik, Peter T. Nelson, Donna M. Wilcock, Gregory A. Jicha, Ann M. Stowe, Larry B. Goldstein, David K. Powel, Jeffrey H. Walton, Manuel F. Navedo, Matthew A. Nystoriak, Andrew J. Murray, Geert Jan Biessels, Claire Troakes, Henrik Zetterberg, John Hardy, Tammaryn Lashley, Florin Despa
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-16 (2023)
Converging data from humans and laboratory animals suggest that altering bloodborne amylin could potentially reduce cerebrovascular amylin deposits and Aβ pathology in Alzheimer’s disease brains.
Externí odkaz:
https://doaj.org/article/b6483589f28142ef83c37fe4a6e6a7dc