Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

Authors: Laura L. Baxter, Dawn E. Watkins-Chow, Nicholas L. Johnson, Nicole Y. Farhat, Frances M. Platt, Ryan K. Dale, Forbes D. Porter, William J. Pavan, Jorge L. Rodriguez-Gil

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/ca15cd7d85e544589362b1541d47b189

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

Authors: Babatunde Adedokun, Zhaohui Du, Guimin Gao, Thomas U. Ahearn, Kathryn L. Lunetta, Gary Zirpoli, Jonine Figueroa, Esther M. John, Leslie Bernstein, Wei Zheng, Jennifer J. Hu, Regina G. Ziegler, Sarah Nyante, Elisa V. Bandera, Sue A. Ingles, Michael F. Press, Sandra L. Deming-Halverson, Jorge L. Rodriguez-Gil, Song Yao, Temidayo O. Ogundiran, Oladosu Ojengbede, William Blot, Melissa A. Troester, Katherine L. Nathanson, Anselm Hennis, Barbara Nemesure, Stefan Ambs, Peter N. Fiorica, Lara E. Sucheston-Campbell, Jeannette T. Bensen, Lawrence H. Kushi, Gabriela Torres-Mejia, Donglei Hu, Laura Fejerman, Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Kyriaki Michailidou, Paul D. P. Pharoah, Qin Wang, Dale P. Sandler, Jack A. Taylor, Katie M. O’Brien, Cari M. Kitahara, Adeyinka G. Falusi, Chinedum Babalola, Joel Yarney, Baffour Awuah, Beatrice Addai-Wiafe, The GBHS Study Team, Stephen J. Chanock, Andrew F. Olshan, Christine B. Ambrosone, David V. Conti, Elad Ziv, Olufunmilayo I. Olopade, Montserrat Garcia-Closas, Julie R. Palmer, Christopher A. Haiman, Dezheng Huo

Source: Nature Communications, Vol 12, Iss 1, Pp 1-8 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/6f0e5304a68d47149e5deb98e9b77d0a

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

Authors: Jorge L. Rodriguez-Gil, Dawn E. Watkins-Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen M. Wincovitch, Julia C. Wedel, Arturo A. Incao, Mylene Huebecker, Frederick J. Boehm, William S. Garver, Forbes D. Porter, Karl W. Broman, Frances M. Platt, William J. Pavan

Source: Disease Models & Mechanisms, Vol 13, Iss 3 (2020)

Subject Terms: niemann-pick disease type c1, npc1, mouse models, genetic modifiers, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/13/3/dmm042614; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/ef50034038734837b8a67902b9084e8d

A functionally significant SNP in TP53 and breast cancer risk in African-American women

Authors: Maureen E. Murphy, Song Liu, Song Yao, Dezheng Huo, Qin Liu, Sonia C. Dolfi, Kim M. Hirshfield, Chi-Chen Hong, Qiang Hu, Andrew F. Olshan, Temidayo O. Ogundiran, Clement Adebamowo, Susan M. Domchek, Katherine L. Nathanson, Barbara Nemesure, Stefan Ambs, William J. Blot, Ye Feng, Esther M. John, Leslie Bernstein, Wei Zheng, Jennifer J. Hu, Regina G. Ziegler, Sarah Nyante, Sue A. Ingles, Michael F. Press, Sandra L. Deming, Jorge L. Rodriguez-Gil, Christopher A. Haiman, Olufunmilayo I. Olopade, Kathryn L. Lunetta, Julie R. Palmer, Christine B. Ambrosone

Source: npj Breast Cancer, Vol 3, Iss 1, Pp 1-4 (2017)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2374-4677

Access URL: https://doaj.org/article/6cbf07c525e841a38a28b2739e09d08a

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

Authors: Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky

Source: Disease Models & Mechanisms, Vol 9, Iss 7, Pp 769-778 (2016)

Subject Terms: Gaucher disease, Glucocerebrosidase, Neuron, Glucosylceramide, Glucosylsphingosine, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/9/7/769; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/f7b3e5e990b84865ae7b2fc4d4fb9cb0

Correction: Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry.

Authors: Amidou N'Diaye, Gary K. Chen, Cameron D. Palmer, Bing Ge, Bamidele Tayo, Rasika A. Mathias, Jingzhong Ding, Michael A. Nalls, Adebowale Adeyemo, Véronique Adoue, Christine B. Ambrosone, Larry Atwood, Elisa V. Bandera, Lewis C. Becker, Sonja I. Berndt, Leslie Bernstein, William J. Blot, Eric Boerwinkle, Angela Britton, Graham Casey, Stephen J. Chanock, Ellen Demerath, Sandra L. Deming, W. Ryan Diver, Caroline Fox, Tamara B. Harris, Dena G. Hernandez, Jennifer J. Hu, Sue A. Ingles, Esther M. John, Craig Johnson, Brendan Keating, Rick A. Kittles, Laurence N. Kolonel, Stephen B. Kritchevsky, Loic Le Marchand, Kurt Lohman, Jiankang Liu, Robert C. Millikan, Adam Murphy, Solomon Musani, Christine Neslund-Dudas, Kari E. North, Sarah Nyante, Adesola Ogunniyi, Elaine A. Ostrander, George Papanicolaou, Sanjay Patel, Curtis A. Pettaway, Michael F. Press, Susan Redline, Jorge L. Rodriguez-Gil, Charles Rotimi, Benjamin A. Rybicki, Babatunde Salako, Pamela J. Schreiner, Lisa B. Signorello, Andrew B. Singleton, Janet L. Stanford, Alex H. Stram, Daniel O. Stram, Sara S. Strom, Bhoom Suktitipat, Michael J. Thun, John S. Witte, Lisa R. Yanek, Regina G. Ziegler, Wei Zheng, Xiaofeng Zhu, Joseph M. Zmuda, Alan B. Zonderman, Michele K. Evans, Yongmei Liu, Diane M. Becker, Richard S. Cooper, Tomi Pastinen, Brian E. Henderson, Joel N. Hirschhorn, Guillaume Lettre, Christopher A. Haiman

Source: PLoS Genetics, Vol 7, Iss 11 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3227698; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/ab586e88ec1240cb93d996c0246f2a53

Methodological Considerations in Estimation of Phenotype Heritability Using Genome-Wide SNP Data, Illustrated by an Analysis of the Heritability of Height in a Large Sample of African Ancestry Adults.

Authors: Fang Chen, Jing He, Jianqi Zhang, Gary K Chen, Venetta Thomas, Christine B Ambrosone, Elisa V Bandera, Sonja I Berndt, Leslie Bernstein, William J Blot, Qiuyin Cai, John Carpten, Graham Casey, Stephen J Chanock, Iona Cheng, Lisa Chu, Sandra L Deming, W Ryan Driver, Phyllis Goodman, Richard B Hayes, Anselm J M Hennis, Ann W Hsing, Jennifer J Hu, Sue A Ingles, Esther M John, Rick A Kittles, Suzanne Kolb, M Cristina Leske, Robert C Millikan, Kristine R Monroe, Adam Murphy, Barbara Nemesure, Christine Neslund-Dudas, Sarah Nyante, Elaine A Ostrander, Michael F Press, Jorge L Rodriguez-Gil, Ben A Rybicki, Fredrick Schumacher, Janet L Stanford, Lisa B Signorello, Sara S Strom, Victoria Stevens, David Van Den Berg, Zhaoming Wang, John S Witte, Suh-Yuh Wu, Yuko Yamamura, Wei Zheng, Regina G Ziegler, Alexander H Stram, Laurence N Kolonel, Loïc Le Marchand, Brian E Henderson, Christopher A Haiman, Daniel O Stram

Source: PLoS ONE, Vol 10, Iss 6, p e0131106 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4488332?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/128e46a0c8c94ba998a6a6c96bfe5c2f

A genome-wide scan for breast cancer risk haplotypes among African American women.

Authors: Chi Song, Gary K Chen, Robert C Millikan, Christine B Ambrosone, Esther M John, Leslie Bernstein, Wei Zheng, Jennifer J Hu, Regina G Ziegler, Sarah Nyante, Elisa V Bandera, Sue A Ingles, Michael F Press, Sandra L Deming, Jorge L Rodriguez-Gil, Stephen J Chanock, Peggy Wan, Xin Sheng, Loreall C Pooler, David J Van Den Berg, Loic Le Marchand, Laurence N Kolonel, Brian E Henderson, Chris A Haiman, Daniel O Stram

Source: PLoS ONE, Vol 8, Iss 2, p e57298 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3585353?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/e998d726caf54b709e7bda8504492306

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

Authors: Amidou N'Diaye, Gary K Chen, Cameron D Palmer, Bing Ge, Bamidele Tayo, Rasika A Mathias, Jingzhong Ding, Michael A Nalls, Adebowale Adeyemo, Véronique Adoue, Christine B Ambrosone, Larry Atwood, Elisa V Bandera, Lewis C Becker, Sonja I Berndt, Leslie Bernstein, William J Blot, Eric Boerwinkle, Angela Britton, Graham Casey, Stephen J Chanock, Ellen Demerath, Sandra L Deming, W Ryan Diver, Caroline Fox, Tamara B Harris, Dena G Hernandez, Jennifer J Hu, Sue A Ingles, Esther M John, Craig Johnson, Brendan Keating, Rick A Kittles, Laurence N Kolonel, Stephen B Kritchevsky, Loic Le Marchand, Kurt Lohman, Jiankang Liu, Robert C Millikan, Adam Murphy, Solomon Musani, Christine Neslund-Dudas, Kari E North, Sarah Nyante, Adesola Ogunniyi, Elaine A Ostrander, George Papanicolaou, Sanjay Patel, Curtis A Pettaway, Michael F Press, Susan Redline, Jorge L Rodriguez-Gil, Charles Rotimi, Benjamin A Rybicki, Babatunde Salako, Pamela J Schreiner, Lisa B Signorello, Andrew B Singleton, Janet L Stanford, Alex H Stram, Daniel O Stram, Sara S Strom, Bhoom Suktitipat, Michael J Thun, John S Witte, Lisa R Yanek, Regina G Ziegler, Wei Zheng, Xiaofeng Zhu, Joseph M Zmuda, Alan B Zonderman, Michele K Evans, Yongmei Liu, Diane M Becker, Richard S Cooper, Tomi Pastinen, Brian E Henderson, Joel N Hirschhorn, Guillaume Lettre, Christopher A Haiman

Source: PLoS Genetics, Vol 7, Iss 10, p e1002298 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21998595/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/235df6289e8c4e67b0d8cbb11e6a5b1a

Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium.

Authors: Bogdan Pasaniuc, Noah Zaitlen, Guillaume Lettre, Gary K Chen, Arti Tandon, W H Linda Kao, Ingo Ruczinski, Myriam Fornage, David S Siscovick, Xiaofeng Zhu, Emma Larkin, Leslie A Lange, L Adrienne Cupples, Qiong Yang, Ermeg L Akylbekova, Solomon K Musani, Jasmin Divers, Joe Mychaleckyj, Mingyao Li, George J Papanicolaou, Robert C Millikan, Christine B Ambrosone, Esther M John, Leslie Bernstein, Wei Zheng, Jennifer J Hu, Regina G Ziegler, Sarah J Nyante, Elisa V Bandera, Sue A Ingles, Michael F Press, Stephen J Chanock, Sandra L Deming, Jorge L Rodriguez-Gil, Cameron D Palmer, Sarah Buxbaum, Lynette Ekunwe, Joel N Hirschhorn, Brian E Henderson, Simon Myers, Christopher A Haiman, David Reich, Nick Patterson, James G Wilson, Alkes L Price

Source: PLoS Genetics, Vol 7, Iss 4, p e1001371 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3080860?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/e78b675e8c4a46afaeac1231b3939d8c