Results 61 to 70 of about 4,953,128 (334)

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

FEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona, Carlo M. Bergamini, Carlo Ferrari, Stefano Volinia, Nicoletta Bianchi   +4 more
wiley   +1 more source

Imeglimin attenuates liver fibrosis by inhibiting vesicular ATP release from hepatic stellate cells

FEBS Letters, EarlyView.
Imeglimin, at clinically relevant concentrations, inhibits vesicular ATP accumulation and release from hepatic stellate cells, thereby attenuating purinergic signaling and reducing fibrogenic activation. This mechanism reveals a newly identified antifibrotic action of imeglimin beyond glycemic control.
Seiji Nomura, Lixiang Wang, Nao Hasuzawa, Ayako Nagayama, Sawako Moriyama, Kenji Ashida, Yoshinori Moriyama, Masatoshi Nomura, Ken Yamamoto   +8 more
wiley   +1 more source

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
Kandamurugu Manickam, M. McClain, L. Demmer, Sawona Biswas, H. Kearney, J. Malinowski, L. Massingham, Danny Miller, T. Yu, F. Hisama   +9 more
semanticscholar   +1 more source

A structural variation reference for medical and population genetics

Nature, 2020
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome ...
Ryan L. Collins, H. Brand, K. Karczewski, Xuefang Zhao, Jessica Alföldi, L. Francioli, A. Khera, Chelsea Lowther, L. Gauthier, Harold Wang, N. Watts, M. Solomonson, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, M. Stone, E. Valkanas, Jack M. Fu, G. Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, C. Stevens, N. Gupta, C. Cusick, L. Margolin, Irina M. Armean, E. Banks, Louis Bergelson, K. Cibulskis, K. Connolly, Miguel Covarrubias, Beryl B. Cummings, M. Daly, S. Donnelly, Y. Farjoun, S. Ferriera, S. Gabriel, Jeff Gentry, Thibault Jeandet, D. Kaplan, Christopher Llanwarne, E. Minikel, B. Neale, Sam Novod, A. O’Donnell-Luria, Nikelle Petrillo, T. Poterba, David Roazen, A. Saltzman, K. Samocha, M. Schleicher, C. Seed, José Soto, Kathleen M. Tibbetts, C. Tolonen, C. Vittal, Gordon Wade, Arcturus Wang, Qingbo S. Wang, J. Ware, B. Weisburd, N. Whiffin, C. Salinas, Tariq Ahmad, C. Albert, D. Ardissino, G. Atzmon, J. Barnard, L. Beaugerie, E. Benjamin, M. Boehnke, L. Bonnycastle, E. Bottinger, D. Bowden, M. Bown, J. Chambers, J. Chan, D. Chasman, Judy H. Cho, M. Chung, Bruce M Cohen, A. Correa, D. Dabelea, D. Darbar, R. Duggirala, J. Dupuis, P. Ellinor, R. Elosúa, J. Erdmann, T. Esko, M. Färkkilä, J. Florez, A. Franke, G. Getz, Benjamin Glaser, S. Glatt, David B. Goldstein, Clicerio Gonzalez, L. Groop, Christopher A. Haiman, Craig Hanis, Matthew Harms, M. Hiltunen, M. Holi, C. Hultman, M. Kallela, J. Kaprio, S. Kathiresan, Bong-Jo Kim, Y. J. Kim, G. Kirov, J. Kooner, S. Koskinen, H. Krumholz, S. Kugathasan, S. Kwak, M. Laakso, T. Lehtimäki, R. Loos, S. Lubitz, Ronald C. W. Ma, D. MacArthur, J. Marrugat, K. Mattila, S. Mccarroll, M. McCarthy, D. McGovern, R. McPherson, J. Meigs, O. Melander, A. Metspalu, P. M. Nilsson, M. O’Donovan, D. Öngür, L. Orozco, M. Owen, C. Palmer, A. Palotie, K. Park, C. Pato, A. Pulver, N. Rahman, A. Remes, J. Rioux, S. Ripatti, D. Roden, D. Saleheen, V. Salomaa, N. Samani, J. Scharf, H. Schunkert, M. B. Shoemaker, P. Sklar, H. Soininen, H. Sokol, T. Spector, P. Sullivan, J. Suvisaari, E. Tai, Y. Teo, Tuomi Tiinamaija, Ming Tsuang, D. Turner, Teresa Tusié-Luna, E. Vartiainen, H. Watkins, R. Weersma, M. Wessman, James G. Wilson, R. Xavier, K. Taylor, Henry J. Lin, S. Rich, W. Post, Y. Chen, J. Rotter, C. Nusbaum, A. Philippakis, E. Lander, M. Talkowski   +183 more
semanticscholar   +1 more source

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source

Exploration of strengthening the cultivation of ethical quality in the construction of medical genetics course [PDF]

Jichu yixue yu linchuang, 2020
With the completion of the human genome project and the advancement of sequencing technology, the ethical issues involved in medical genetics have become increasingly prominent. This requires the integration of ethical and other ideological elements into
MI Ya-jing, ZHANG Ni, FENG Hao, LIU Jie, GOU Xing-chun, JING Xiao-hong
doaj  

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes

The Application of Clinical Genetics
Ali M Sawlan,1 Msaed Alotaibi,1 Rayan M Alharbi,1 Nimr A Alwahbi,1 Manar Alshammary,2 Ali Mohammad Alasmari,2 Fuad Al Mutairi3,4 1College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG ...
Sawlan AM, Alotaibi M, Alharbi RM, Alwahbi NA, Alshammary M, Alasmari AM, Al Mutairi F   +6 more
doaj  

Genetics and genomic medicine in Sri Lanka

Molecular Genetics & Genomic Medicine, 2019
The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of
Nirmala D. Sirisena, Vajira H. W. Dissanayake   +1 more
doaj   +1 more source