Zobrazeno 1 - 10
of 194
pro vyhledávání: '"Richard L Maas"'
Autor:
Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung, Casey Tsimbal, Baul Yoon, Nikkola Carmichael, Richard L Maas, Justin Cotney, Yevgenya Grinblat, Eric C Liao
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 7, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/bddf706214e4466a9e30f478ae8172a6
Autor:
Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung, Casey Tsimbal, Baul Yoon, Nikkola Carmichael, Richard L Maas, Justin Cotney, Yevgenya Grinblat, Eric C Liao
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 10, Pp n/a-n/a (2020)
Abstract A pedigree of subjects presented with frontonasal dysplasia (FND). Genome sequencing and analysis identified a p.L165F missense variant in the homeodomain of the transcription factor ALX1 which was imputed to be pathogenic. Induced pluripote
Externí odkaz:
https://doaj.org/article/8daa287100a14cf3a4f3c140c0d38ae6
Autor:
Kerstin Seidel, Pauline Marangoni, Cynthia Tang, Bahar Houshmand, Wen Du, Richard L Maas, Steven Murray, Michael C Oldham, Ophir D Klein
Publikováno v:
eLife, Vol 6 (2017)
Investigations into stem cell-fueled renewal of an organ benefit from an inventory of cell type-specific markers and a deep understanding of the cellular diversity within stem cell niches. Using the adult mouse incisor as a model for a continuously r
Externí odkaz:
https://doaj.org/article/fee6401a1b9f41a9a0c02bc68a6f2f2f
Autor:
Raymond M Anchan, Salil A Lachke, Behzad Gerami-Naini, Jennifer Lindsey, Nicholas Ng, Catherine Naber, Michael Nickerson, Resy Cavallesco, Sheldon Rowan, Jennifer L Eaton, Qiongchao Xi, Richard L Maas
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e115106 (2014)
Embryonic stem (ES) cells provide a potentially useful in vitro model for the study of in vivo tissue differentiation. We used mouse and human ES cells to investigate whether the lens regulatory genes Pax6 and Six3 could induce lens cell fate in vitr
Externí odkaz:
https://doaj.org/article/0e56d67adf9f403b80914b144a7a171e
Autor:
Dolrudee Jumlongras, Salil A Lachke, Daniel J O'Connell, Anton Aboukhalil, Xiao Li, Sung E Choe, Joshua W K Ho, Annick Turbe-Doan, Erin A Robertson, Bjorn R Olsen, Martha L Bulyk, Brad A Amendt, Richard L Maas
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e38568 (2012)
To elucidate the transcriptional regulation of Bmp4 expression during organogenesis, we used phylogenetic footprinting and transgenic reporter analyses to identify Bmp4 cis-regulatory modules (CRMs). These analyses identified a regulatory region loca
Externí odkaz:
https://doaj.org/article/08e5f2f2b31c43439d3dcdafd28aa674
Autor:
Xiu-Ping Wang, Marika Suomalainen, Szabolcs Felszeghy, Laura C Zelarayan, Maria T Alonso, Maksim V Plikus, Richard L Maas, Cheng-Ming Chuong, Thomas Schimmang, Irma Thesleff
Publikováno v:
PLoS Biology, Vol 5, Iss 6, p e159 (2007)
Epithelial stem cells reside in specific niches that regulate their self-renewal and differentiation, and are responsible for the continuous regeneration of tissues such as hair, skin, and gut. Although the regenerative potential of mammalian teeth i
Externí odkaz:
https://doaj.org/article/c670829e8d30498695f162f205898ffe
Autor:
Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, Fowzan S Alkuraya, Diana J Donovan, Qiongchao Xi, Annick Turbe-Doan, Qing-Gang Li, Craig G Campbell, Alan L Shanske, Elliott H Sherr, Ayesha Ahmad, Roxana Peters, Benedict Rilliet, Paloma Parvex, Alexander G Bassuk, David J Harris, Heather Ferguson, Chantal Kelly, Christopher A Walsh, Richard M Gronostajski, Koenraad Devriendt, Anne Higgins, Azra H Ligon, Bradley J Quade, Cynthia C Morton, James F Gusella, Richard L Maas
Publikováno v:
PLoS Genetics, Vol 3, Iss 5, p e80 (2007)
Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically rela
Externí odkaz:
https://doaj.org/article/ddf5c0ea2cd942388b69b1b924bd0135
Autor:
Mari Kuraguchi, Xiu-Ping Wang, Roderick T Bronson, Rebecca Rothenberg, Nana Yaw Ohene-Baah, Jennifer J Lund, Melanie Kucherlapati, Richard L Maas, Raju Kucherlapati
Publikováno v:
PLoS Genetics, Vol 2, Iss 9, p e146 (2006)
The tumor suppressor gene Apc (adenomatous polyposis coli) is a member of the Wnt signaling pathway that is involved in development and tumorigenesis. Heterozygous knockout mice for Apc have a tumor predisposition phenotype and homozygosity leads to
Externí odkaz:
https://doaj.org/article/f7d14f1a5c3a46479a61d28630823a57
Autor:
Liron David, Laurel Martinez, Qiongchao Xi, Kameron A. Kooshesh, Ying Zhang, Jagesh V. Shah, Richard L. Maas, Hao Wu
Publikováno v:
Proceedings of the National Academy of Sciences. 120
Piezo1 and 2 are evolutionarily conserved mechanosensory cation channels known to function on the cell surface by responding to external pressure and transducing a mechanically activated Ca 2+ current. Here we show that both Piezo1 and 2 also exhibit
Autor:
Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenfeld, Jonathan Zirin, Oguz Kanca, Maria T. Acosta, Margaret Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanya, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Matthew Deardorff, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Marni Falk, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Laurie C. Findley, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, William A. Gahl, Ian Glass, Bernadette Gochuico, Rena A. Godfrey, Katie Golden-Grant, Alica M. Goldman, Madison P. Goldrich, David B. Goldstein, Alana Grajewski, Catherine A. Groden, Irma Gutierrez, Sihoun Hahn, Rizwan Hamid, Neil A. Hanchard, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Laryssa Huryn, Rosario Isasi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Lefkothea Karaviti, Jennifer Kennedy, Dana Kiley, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Susan Korrick, Mary Koziura, Joel B. Krier, Seema R. Lalani, Byron Lam, Christina Lam, Grace L. LaMoure, Brendan C. Lanpher, Ian R. Lanza, Lea Latham, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, John MacDowall, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, Bryan C. Mak, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo Moretti, Paolo M. Moretti, Deborah Mosbrook-Davis, John J. Mulvihill, David R. Murdock, Anna Nagy, Mariko Nakano-Okuno, Avi Nath, Stan F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina GS. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, Lorraine Potocki, Bradley Power, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, Archana N. Raja, Deepak A. Rao, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, C. Ron Scott, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Vandana Shashi, Jimann Shin, Rebecca Signer, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Jennifer A. Sullivan, Kathleen Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Amelia L.M. Tan, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Audrey Thurm, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M. Tucker, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Stephanie Wallace, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Jeremy D. Woods, Shinya Yamamoto, John Yang, Muhammad Yousef, Diane B. Zastrow, Wadih Zein, Chunli Zhao, Stephan Zuchner, Paul J. Benke, Eric S. Cameron, Vincent Strehlow, Konrad Platzer, Rami Abou Jamra, Chiara Klöckner, Matthew Osmond, Thomas Licata, Samantha Rojas, David Dyment, Josephine S.C. Chong, Sharyn Lincoln, John H. Postlethwait, Joel Krier, Hugo J. Bellen
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable