Results 31 to 40 of about 68,587 (225)

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes-Related Quantitative-Trait Loci [PDF]

, 2000
Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes–related quantitative traits in 580 Finnish families ascertained for an affected sibling pair and ...
William Eldridge, Francis S. Collins, Julie A. Douglas, Richard N Bergman, Edna H. Ross, Shane Shapiro, Zarir E Karanjawala, Li, Chun, Shurtleff, Ben, Anjene Musick, Joyce Tannenbaum, Ethan M. Lange, Elza Demirchyan, Rachel Porter, Mohlke, Karen L., Peter Chines, Whiten, Ray, Edna H Ross, Porter, Rachel, Julie I Knapp, Lange, Ethan M., Shapiro, Shane, Toivanen, Liisa, Johan Eriksson, Kaleta, Hong Shi, Carl D. Langefeld, Alistair So, Martin, Colin, Kaisa Silander, Edward Trager, Catherine Te, William A. Hagopian, Michael P Epstein, Kohtamäki, Kimmo, Delphine S Ally, Tuomilehto-Wolf, Eva, Karanjawala, Zarir E., Ben Shurtleff, Victoria L. Magnuson, Christian Welch, Michael R Erdos, Hauser, Elizabeth R., Christian Ehnholm, Carrie Pfahl, Chun Li, Thomas A Buchanan, Zarir E. Karanjawala, Kudelko, Kristina, Jillian Blaschak-Harvan, William A Hagopian, Tasha E Fingerlin, Epstein, Michael P., Alyson Witt, Ray Whiten, Valle, Timo T., Tovar, Jason, Watanabe, Richard M., Heather M Stringham, James Balow, Sharaf, Ravi, James Balow Jr, Michael R. Erdos, Kristina Kudelko, Fingerlin, Tasha E., Liisa Toivanen, Ehnholm, Christian, Tiffany Musick, Morales-Mena, Anabelle, Tannenbaum, Joyce, Eriksson, Johan, Nylund, Stella J., Duren, William L., Birznieks, Gunther, Timo T Valle, Delphine S. Ally, Thomas A. Buchanan, White, Peggy P., Erdos, Michael R., Ally, Delphine S., Rha, David, Jason Tovar, Elizabeth R Hauser, Kimmo Kohtamäki, So, Alistair, Ghosh, Soumitra, Stella J Nylund, Arun Unni, Collins, Francis S., Peggy P. White, Timo T. Valle, Eva Tuomilehto-Wolf, Ethan M Lange, Gunther Birznieks, Joseph B. Rayman, Bergman, Richard N., Musick, Anjene, Stella J. Nylund, Unni, Arun, David Rha, Richard N. Bergman, Michael Boehnke, Hong Shi Kaleta, Karen L Mohlke, Witt, Alyson, Victoria L Magnuson, Michael P. Epstein, Julie I. Knapp, Anabelle Morales-Mena, Joseph B Rayman, Colin Martin, McEachin, Richard C., Jennie Chang, Eldridge, William, Vidgren, Gabriele, Gabriele Vidgren, Boehnke, Michael, Knapp, Julie I., Carl D Langefeld, Hagopian, William A., Welch, Christian, Ross, Edna H., Heather M. Stringham, Leonid Segal, Balow, James, Langefeld, Carl D., Soumitra Ghosh, Segal, Leonid, Blaschak-Harvan, Jillian, Silander, Kaisa, Karen L. Mohlke, Chang, Jennie, Richard M Watanabe, Musick, Tiffany, Chines, Peter, Stringham, Heather M., Richard C. McEachin, Buchanan, Thomas A., William L. Duren, Peggy P White, Elizabeth R. Hauser, Ravi Sharaf, Francis S Collins, Te, Catherine, Richard M. Watanabe, Tasha E. Fingerlin, William L Duren, Rayman, Joseph B., Pfahl, Carrie, Magnuson, Victoria L., Julie A Douglas, Jaakko Tuomilehto, Douglas, Julie A., Trager, Edward, Tuomilehto, Jaakko, Richard C Mceachin, Demirchyan, Elza   +155 more
core   +1 more source

Effects of IGFBP4 deficiency on human preadipocyte proliferation and differentiation through the IGF1R/AKT pathway

FEBS Open Bio, EarlyView.
IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo, Sandy Richter, Christoph Bach, Wieland Kiess, Anna Kirstein, Diana Le Duc, Antje Garten   +6 more
wiley   +1 more source

Identification of candidate genes for dyslexia susceptibility on chromosome 18

, 2010
Background: Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage.
Olson, R K, Pennington Bruce F., Anthony P. Monaco, Pennington, B F, Scerri, TS, Alex J. Richardson, Smith, SD, Talcott, J, Richard K. Olson, Alex J Richardson, MacPhie, I L, Joel Talcott, Bruce F Pennington, Stein, J, Monaco, AP, Morris Andrew, Pennington, BF, Olson Richard K., Silvia Paracchini, Macphie, IL, DeFries, J C, Anthony P Monaco, Thomas S Scerri, Smith, Shelley D., Richardson, Alex J., Olson, RK, I Laurence MacPhie, Stein, John, Shelley D. Smith, Pennington, Bruce F., Monaco, Anthony P., Defries, JC, Paracchini, Silvia, John Stein, Stein, John F., Scerri Thomas S., MacPhie I. Laurence, Talcott, Joel B., I. Laurence MacPhie, Richardson, Alexandra, Monaco, Anthony, Andrew Morris, John C. DeFries, Talcott Joel, Morris, Andrew, Smith, S D, Smith Shelley D., Talcott, Joel, Bruce F. Pennington, Monaco Anthony P., Olson, Richard K., MacPhie, I. Laurence, Morris, A, Richardson, AJ, Paracchini, S, DeFries, John C., DeFries John C., Shelley D Smith, Stein John, John C DeFries, Monaco, A P, Richard K Olson, Paracchini Silvia, Thomas S. Scerri, Scerri, Thomas S., Scerri, T S   +65 more
core   +1 more source

Malformin A1–mediated cytotoxicity in ovarian cancer cells occurs through pyroptosis and autophagy

FEBS Open Bio, EarlyView.
This study investigated the effects of the natural compound Malformin A1 (MA1) on the cytoskeleton that regulates cell proliferation and migration. Disruption of the cytoskeleton can impair these processes and promote cancer cell death. MA1 disrupted cytoskeletal organization, induced DNA damage, inflammation, activated autophagy, and pyroptosis ...
Nada Abdullah Hassan, Ikram A. Burney, Shika Hanif Malgundkar, Siva Ramamoorthy, Ressin Varghese, Mohamed A. Al‐Kindi, Hamad Al Riyami, Shadia Al Bahlani, Sergey Dobretsov, Syed Imran Hassan, Benjamin K. Tsang, Yahya Tamimi   +11 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

LC3B Mediated SETDB1‐Accounted Alcoholic Steatohepatitis via Lipidation‐Dependent LAP and Lipidation‐Independent Nuclear Stabilization

Advanced Science, EarlyView.
SETDB1 is progressively downregulated in ALD, correlating with disease severity. SETDB1 deficiency impairs LAP by disrupting Rubicon membrane localization, leading to defective lipid droplet clearance. Concurrently, loss of SETDB1 reduces nuclear LC3B, causing R‐loop accumulation and cGAS‐STING‐driven inflammation. Lipidated LC3B mediates LAP‐dependent
Yi Zhang, Tan Wei, Jiahang Wu, Chuixu Lin, Dongbo Zhu, Yanhui Li, Shuting Shi, Shishun Huang, Leiming Jiang, Hongzhi Wang, Meiqi Song, Pengfei Gao, Xu Wu, Mingjian Fan, Chaofeng Wei, Qian Wang, Lihui Qu, Zhigang Wang   +17 more
wiley   +1 more source

Chromosome evolution: Karyotype variability in Platyrrhini and studies of sinteny and homologies between human chromosomes

, 2008
Estudamos os cariótipos de espécimes de macacos brasileiros (Platyrrhini, Primates) com técnicas citogenéticas tradicionais e de FISH com as sondas totais dos cromossomos 14, 15 e X humanos e do cromossomo Y de Brachyteles arachnoides obtida por ...
Iughetti, Cristiani Gifalli, Cristiani Gifalli Iughetti   +1 more
core   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source