Results 51 to 60 of about 9,621,488 (249)
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato +2 morewiley +1 more sourceCopy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers [PDF]
, 2022 The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.Side, Lucy E.,, Wevers, Marike R, Moserle, Lidia,, Couch, Fergus J, Rodriguez, Gustavo C.,, Lasset, Christine,, Barkardottir, Rosa B., Andrulis, Irene L, Pearson, John F.,, Schmutzler, Rita K.,, Mouret-Fourme, Emmanuelle,, Parsons, Michael T, Leslie, Goska, van Engelen, Klaartje, Nambot, Sophie, Barkardottir, Rosa B, Musgrave, Hannah, Viel, Alessandra, Frost, Debra,, Laitman, Yael, Karlan, Beth Y, de la Hoya, Miguel, Berger, Lieke,, Hahnen, Eric,, Azzollini, Jacopo,, Imyanitov, Evgeny N., Osorio, Ana, Imyanitov, Evgeny N, Offit, Kenneth, Ramser, Juliane, Peixoto, Ana,, Chung, Wendy K., Martens, John W M,, Janavicius, Ramunas, Spurdle, Amanda B., Hansen, Thomas V.O., Radice, Paolo,, Evans, D Gareth, Claes, Kathleen B. M., Dandiker, Sita, Rønlund, Karina,, de Putter, Robin,, Trainer, Alison H, Pocza, Timea, Steinemann, Doris, Sharif, Saba, Davidson, Rosemarie,, Nathanson, Katherine L.,, Hamann, Ute,, Rodriguez, Gustavo C., Park, Sue K.,, Legrand, Clémentine, Neuhausen, Susan L., Goldgar, David E.,, Spurdle, Amanda B, Greene, Mark H.,, Rossing, Maria,, Ehrencrona, Hans,, John, Esther M.,, Greene, Mark H., Engel, Christoph,, Perez-Segura, Pedro,, Mouret-Fourme, Emmanuelle, Olopade, Olufunmilayo I., Offit, Kenneth,, Antoniou, Antonis C, Buys, Saundra S, Fostira, Florentia, Frone, Megan,, Kemp, Zoe, Kirk, Judy, Snape, Katie, Azzollini, Jacopo, Gayther, Simon A., Nambot, Sophie,, Thomassen, Mads,, Mebirouk, Noura, Peterlongo, Paolo, Hakkaart, Christopher,, Snape, Katie,, Thomassen, Mads, Trainer, Alison H.,, Side, Lucy E., Tan, Yen Yen, Honisch, Ellen, Leslie, Goska,, Martens, John W.M., Dennis, Joe,, James, Paul A, Lautrup, Charlotte, Weitzel, Jeffrey N, Konstantopoulou, Irene,, Wiggins, George A. R., Evans, D. Gareth, Blok, Marinus J.,, Walker, Lisa, Janavičius, Ramūnas,, Collonge-Rame, Marie-Agnès,, Walker, Lisa,, Thull, Darcy L, Shah, Payal D, Easton, Douglas F, GEMO Study Collaborators, Teixeira, Manuel R., Rantala, Johanna, Engel, Christoph, Mace, Peter D, Walker, Logan C.,, Nguyen-Dumont, Tu,, Balmaña, Judith, Boonen, Susanne E, McGuffog, Lesley,, Imyanitov, Evgeny N.,, Walker, Logan C, Domchek, Susan M., Ott, Claus-Eric,, Robinson, Bridget A.,, Godwin, Andrew K, Hentschel, Julia,, Mai, Phuong L, Toland, Amanda E, Nevanlinna, Heli, Cook, Jackie, Goldgar, David E., Goldgar, David E, Rodriguez, Gustavo C, Borde, Julika, Tripathi, Vishakha, Ehrencrona, Hans, van Rensburg, Elizabeth J, Isaacs, Claudine, Simard, Jacques, Rønlund, Karina, Gehrig, Andrea,, Honisch, Ellen,, Yie, Joanne Ngeow Yuen, van Engelen, Klaartje,, Olopade, Olufunmilayo I, Lasset, Christine, Tan, Yen Yen,, Mace, Peter D.,, James, Paul A., Lesueur, Fabienne, Gayther, Simon A.,, Campbell, Ian, Dhawan, Mallika, EMBRACE Collaborators, Easton, Douglas F., Legrand, Clémentine,, Herold, Natalie, Nevanlinna, Heli,, Chung, Wendy K, Bradbury, Angela R.,, Tung, Nadine,, Diez, Orland, Izatt, Louise,, Couch, Fergus J., Buys, Saundra S., Izquierdo, Angel, Musgrave, Hannah,, Aittomäki, Kristiina,, Yuen Yie, Joanne Ngeow, Donaldson, Alan,, Blok, Marinus J, Barnes, Daniel R.,, Boonen, Susanne E.,, Montagna, Marco, Delnatte, Capucine, Walker, Logan C., Caligo, Maria A, Chenevix-Trench, Georgia,, Toland, Amanda E., Tung, Nadine, Rossing, Maria, SWE-BRCA Investigators, Meindl, Alfons,, Hakkaart, Christopher, Eason, Jacqueline, Weitzel, Jeffrey N.,, Kemp, Zoe,, Karlan, Beth Y., Gayther, Simon A, Sharif, Saba,, Easton, Douglas F.,, Frone, Megan, Bradbury, Angela R, Hansen, Thomas V O,, Jakubowska, Anna,, Kwong, Ava,, Weitzel, Jeffrey N., Kwong, Ava, Boonen, Susanne E., Osorio, Ana,, Faust, Ulrike, Vega, Ana, Bradbury, Angela R., Neuhausen, Susan L.,, Pearson, John F, Toland, Amanda E.,, Caligo, Maria A., Lalloo, Fiona,, Moserle, Lidia, Wevers, Marike R.,, HEBON Investigators, Peixoto, Ana, Mari, Véronique,, Donaldson, Alan, Parsons, Michael T.,, Martens, John W. M., Eason, Jacqueline,, Cook, Jackie,, Laitman, Yael,, Thull, Darcy L.,, Daly, Mary B, Faust, Ulrike,, Perez-Segura, Pedro, Teixeira, Manuel R.,, Jakubowska, Anna, Olah, Edith, Trainer, Alison H., Belhadj, Sami, Nguyen-Dumont, Tu, Andrulis, Irene L., Mari, Véronique, Claes, Kathleen, Blok, Marinus J., Godwin, Andrew K.,, Izatt, Louise, Davidson, Rosemarie, Arun, Banu K., de Putter, Robin, Manoukian, Siranoush,, Wevers, Marijke R., Barkardottir, Rosa B.,, Ding, Yuan Chun, Nikitina-Zake, Liene, Pocza, Timea,, Hamann, Ute, Robinson, Bridget A, Hauke, Jan,, Singer, Christian F, Dennis, Joe, Park, Sue K, Delnatte, Capucine,, Parsons, Michael T., de la Hoya, Miguel,, Tischkowitz, Marc,, Wiggins, George A R, John, Esther M., Chenevix-Trench, Georgia, Claes, Kathleen B M, Frost, Debra, Radice, Paolo, Lalloo, Fiona, Barnes, Daniel R., Daly, Mary B., Dandiker, Sita,, Hake, Christopher R.,, Sharma, Priyanka, Belhadj, Sami,, Miller, Austin,, Antoniou, Antonis C., John, Esther M, Marquart, Louise,, Berger, Lieke, Gesta, Paul,, Arun, Banu K, Sutter, Christian, Domchek, Susan M.,, Feliubadaló, Lidia,, Kirk, Judy,, Side, Lucy E, Rantala, Johanna,, Rosenberg, Efraim H.,, Yie, Joanne Ngeow Yuen,, Herold, Natalie,, Shah, Payal D.,, Brunet, Joan,, Hulick, Peter J., Shah, Payal D., Arun, Banu K.,, Teo, Soo Hwang,, Tripathi, Vishakha,, Vega, Ana,, Chung, Wendy K.,, Martens, John W M, Balmaña, Judith,, Brunet, Joan, Collonge-Rame, Marie-Agnès, Wiggins, George A.R., Hentschel, Julia, Tischkowitz, Marc, Dhawan, Mallika,, Claes, KathleenGE31UZGent8010011241460000-0003-0841-7372F525876E-F0ED-11E1-A9DE-61C894A0A6B4, Cosgrove, Casey,, Greene, Mark H, Teixeira, Manuel R, Gehrig, Andrea, Marquart, Louise, Garber, Judy,, Thull, Darcy L., Friedman, Eitan,, Peterlongo, Paolo,, Mai, Phuong L., Olah, Edith,, James, Paul A.,, Spurdle, Amanda B.,, Cosgrove, Casey, Neuhausen, Susan L, Friedman, Eitan, Koudijs, Marco,, Meindl, Alfons, Hulick, Peter J, Lazaro, Conxi, Diez, Orland,, Feliubadaló, Lidia, Viel, Alessandra,, Steinemann, Doris,, Evans, D Gareth,, Domchek, Susan M, Ding, Yuan Chun,, Mebirouk, Noura,, Daly, Mary B.,, Aittomäki, Kristiina, Antoniou, Antonis C.,, Koudijs, Marco, Hulick, Peter J.,, Lesueur, Fabienne,, Schmutzler, Rita K., Buys, Saundra S.,, de Putter, RobinGE31UZGent0020041015398020037184690000-0001-9410-894109FD500E-F0EE-11E1-A9DE-61C894A0A6B4, Nathanson, Katherine L, Singer, Christian F., Sutter, Christian,, McGuffog, Lesley, Hauke, Jan, Garber, Judy, Pedersen, Inge Sokilde,, Stoppa-Lyonnet, Dominique,, Claes, Kathleen B.M., Simard, Jacques,, Mace, Peter D., Olopade, Olufunmilayo I.,, Pedersen, Inge Sokilde; id_orcid, Hahnen, Eric, Lautrup, Charlotte,, Izquierdo, Angel,, Couch, Fergus J.,, Caligo, Maria A.,, Jansen van Rensburg, Elizabeth, Wiggins, George A R,, Karlan, Beth Y.,, Miller, Austin, Manoukian, Siranoush, Rosenberg, Efraim H, van Rensburg, Elizabeth J., Singer, Christian F.,, Pearson, John F., Lazaro, Conxi,, Barnes, Daniel R, Ott, Claus-Eric, Mai, Phuong L.,, Nikitina-Zake, Liene,, Schmutzler, Rita K, Rosenberg, Efraim H., Ramser, Juliane,, Teo, Soo Hwang, Ronlund, Karina, Joseph, Vijai,, Hansen, Thomas V O, van Rensburg, Elizabeth J.,, Isaacs, Claudine,, Robinson, Bridget A., Campbell, Ian,, Fostira, Florentia,, Konstantopoulou, Irene, Gesta, Paul, Andrulis, Irene L.,, Godwin, Andrew K., Claes, Kathleen B M,, Pedersen, Inge Sokilde, Sharma, Priyanka,, Park, Sue K., Hake, Christopher R., Hansen, Thomas V. O., kConFab Investigators, Stoppa-Lyonnet, Dominique, Nathanson, Katherine L., Borde, Julika,, Montagna, Marco,, Joseph, Vijai, Hake, Christopher R, Wevers, Marike R. +392 morecore +10 more sourcesInfluence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study
Molecular Genetics and Metabolism Reports, 2019 Objectives: The gene encoding glucose transporter 3 (GLUT3, SLC2A3) is present in the human population at variable copy number. An overt disease phenotype of SLC2A3 copy number variants has not been reported; however, deletion of SLC2A3 has been ...Kim R. Simpfendorfer, Wentian Li, Andrew Shih, Hongxiu Wen, Harini P. Kothari, Edward A. Einsidler, Arthur Wuster, Julie Hunkapiller, Timothy W. Behrens, Robert R. Graham, Michael J. Townsend, Doron M. Behar, Rui Hu, Elliott Greenspan, Peter K. Gregersen +14 moredoaj +1 more sourceA novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia
BMC Ophthalmology, 2023 Background To identify the disease-causing gene in a Chinese family affected with congenital aniridia. Methods Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography ...Yinwen Li, Jieqiong Chen, Ying Zheng, Zhixuan Chen, Tao Wang, Qian Sun, Xiaoling Wan, Haiyun Liu, Xiaodong Sun +8 moredoaj +1 more sourceReconstructing enzyme evolution by protein engineering
FEBS Letters, EarlyView.Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...Lukas Drexler, Markus R. Busch, Reinhard Sterner +2 morewiley +1 more source
