Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kathleen A. Soltis"'
Autor:
Kristin Sedgwick, Kirsten Timms, Benjamin B. Roa, Nadine Tung, Richard J. Wenstrup, Anne-Renee Hartman, Brian Allen, Judy Garber, Kathleen A. Soltis, Leif W. Ellisen, Jill Krejdovsky, Christina I. Herold, Chiara Battelli, Kim DeLeonardis, Satish Bhatnagar, Karla R. Bowles, Rajesh R. Kaldate
Publikováno v:
Cancer. 121:25-33
BACKGROUND Next-generation sequencing (NGS) allows for simultaneous sequencing of multiple cancer susceptibility genes and, for an individual, may be more efficient and less expensive than sequential testing. The authors assessed the frequency of del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6467372be16c4bd5357faaffe1605274
https://doi.org/10.1002/cncr.29010
https://doi.org/10.1002/cncr.29010
Autor:
Gordon J. Hildick-Smith, Babette Gwynn, Lionel Blanc, Steven L. Ciciotte, Eric L. Pierce, Luanne L. Peters, Barry H. Paw, Jeffrey D. Cooney, Kathleen A. Soltis
Publikováno v:
Proceedings of the National Academy of Sciences. 109:12099-12104
Phenotype-driven approaches to gene discovery using inbred mice have been instrumental in identifying genetic determinants of inherited blood dyscrasias. The recessive mutant scat (severe combined anemia and thrombocytopenia) alternates between crisi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c420f637a32d7a88783045e9d8a31363
https://doi.org/10.1073/pnas.1204948109
https://doi.org/10.1073/pnas.1204948109
Autor:
Wei Du, Xiaoqui Liu, Dean Y. Li, Yuanli Zhen, Sushil Kumar Dubey, Jiamei Dong, Barry H. Paw, Lejin Wang, Fei He, John D. Phillips, Paul F. McBride, Yi Shi, Chen Liang, Jing Li, Wei Li, Jeffrey D. Cooney, Fang Lu, Ying Lin, Zhenglin Yang, Bo Gong, Yanlei Jia, Kathleen A. Soltis, Prasanthi Namburi, Periasamy Sundaresan, Juan Bu
Publikováno v:
The American Journal of Human Genetics. 90(1):40-48
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity. Using a positional cloning approach, we identified a mutation in the AT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bec7f38f77c91c83feabeebc0d63e12
Autor:
Yuko Fujiwara, Glenn A. MacLean, Leonard I. Zon, Pavankumar N. G. Reddy, Dietmar Vestweber, Kathleen A. Soltis, Dhvanit I. Shah, Taylor C. Patch, Kathleen Hübner, Daniel E. Bauer, Heidi Anderson, Maike Frye, George Q. Daley, Nicholas C. Huston, John P. Kanki, Owen J. Tamplin, Elliott J. Hagedorn, Barry H. Paw, Peter Geon Kim, Minh Nguyen, Stuart H. Orkin, Guillaume Vogin, Michael J. Chen
Rare endothelial cells in the aorta-gonad-mesonephros (AGM) transition into hematopoietic stem cells (HSCs) during embryonic development. Lineage tracing experiments indicate that HSCs emerge from cadherin 5 (Cdh5; vascular endothelial-cadherin)(+) e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::477a450c8778a6a07e1fb5e81bcb25da
https://europepmc.org/articles/PMC4692141/
https://europepmc.org/articles/PMC4692141/
Autor:
Ursula B. Kaiser, Shuyun Xu, Ana Claudia S. Reis, Manisha Jain, Le Min, Kathleen A. Soltis, Rona S. Carroll, Wendy Kuohung
Kisspeptin receptor (KISS1R) signaling plays a critical role in the regulation of reproduction. We investigated the role of kisspeptin-stimulated KISS1R internalization, recycling, and degradation in the modulation of KISS1R signaling. Kisspeptin sti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::890bd29bf8ef45ea87a5c070805b05c6
https://europepmc.org/articles/PMC3874457/
https://europepmc.org/articles/PMC3874457/
Autor:
Amornrat Naranuntarat, Prasad N. Paradkar, Kathleen A. Soltis, Barry H. Paw, Diane M. Ward, Paul D. Kingsley, Roland Nilsson, Eric Adam Pierce, Valeria C. Culotta, James Palis, Vamsi K. Mootha, Jerry Kaplan, Joshua M. Baughman, Iman J. Schultz
Summary Heme biosynthesis consists of a series of eight enzymatic reactions that originate in mitochondria and continue in the cytosol before returning to mitochondria. Although these core enzymes are well studied, additional mitochondrial transporte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::585b89f82edc19634bb32651a4a55fba
https://europepmc.org/articles/PMC2745341/
https://europepmc.org/articles/PMC2745341/
Autor:
Dean Y. Li, Zhenglin Yang, Bo Gong, Paul F. McBride, Fang Lu, Wei Du, Kathleen A. Soltis, Fei He, Yuanli Zhen, Periasamy Sundaresan, Jeffrey D. Cooney, Chen Liang, Lejin Wang, Yanlei Jia, Prasanthi Namburi, Jiamei Dong, Sushil Kumar Dubey, Yi Shi, Xiaoqi Liu, Barry H. Paw, John D. Phillips, Jing Li, Ying Lin, Wei Li, Juan Bu
Publikováno v:
The American Journal of Human Genetics. 91:397
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aed2c028f8933a6afe881a5d4da86f83
https://doi.org/10.1016/j.ajhg.2012.07.001
https://doi.org/10.1016/j.ajhg.2012.07.001
Autor:
Eric L. Pierce, E. Ricky Chan, Luanne L. Peters, Amy J. Lambert, Babette Gwynn, Kathleen A. Soltis, Barry H. Paw, Steven L. Ciciotte, Mark Raymond Adams
Publikováno v:
Blood. 114:776-776
Abstract 776 The spontaneous recessive mutation scat (severe combined anemia and thrombocytopenia) arose on the inbred BALB/cBy (BALB) mouse strain. The phenotype of scat is cyclic. All homozygotes are severely anemic and thrombocytopenic at birth. L
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4614ef9ef798421df4439df245e48a2b
https://doi.org/10.1182/blood.v114.22.776.776
https://doi.org/10.1182/blood.v114.22.776.776