Search Results - "Tolman, Nathanial"

Identification of regulators of poly-ADP-ribose polymerase inhibitor response through complementary CRISPR knockout and activation screens by Clements, Kristen E., Schleicher, Emily M., Thakar, Tanay, Hale, Anastasia, Dhoonmoon, Ashna, Tolman, Nathanial J., Sharma, Anchal, Liang, Xinwen, Imamura Kawasawa, Yuka, Nicolae, Claudia M., Wang, Hong-Gang, De, Subhajyoti, Moldovan, George-Lucian

“…Inhibitors of poly-ADP-ribose polymerase 1 (PARPi) are highly effective in killing cells deficient in homologous recombination (HR); thus, PARPi have been…”
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Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS by Bryan, Melanie M., Tolman, Nathanial J., Simon, Karen L., Huizing, Marjan, Hufnagel, Robert B., Brooks, Brian P., Speransky, Vladislav, Mullikin, James C., Gahl, William A., Malicdan, May Christine V., Gochuico, Bernadette R.

“…Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3…”
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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome by Abudi-Sinreich, Shachar, Bodine, Steven P, Yokoyama, Tadafumi, Tolman, Nathanial J, Tyrlik, Michal, Testa, Lauren C, Han, Chen G, Dorward, Heidi M, Wincovitch, Stephen M, Anikster, Yair, Gahl, William A, Cinar, Resat, Gochuico, Bernadette R, Malicdan, May Christine V

“…HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to…”
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5 by Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J, O'Brien, Kevin J, Nicoli, Elena-Raluca, Brooks, Brian P, Huryn, Laryssa, Titus, Steven A, Adams, David R, Chen, Dong, Gahl, William A, Gochuico, Bernadette R, Malicdan, May Christine V

“…Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding…”
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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism by Stephen, Joshi, Maddirevula, Sateesh, Nampoothiri, Sheela, Burke, John D., Herzog, Matthew, Shukla, Anju, Steindl, Katharina, Eskin, Ascia, Patil, Siddaramappa J., Joset, Pascal, Lee, Hane, Garrett, Lisa. J., Yokoyama, Tadafumi, Balanda, Nicholas, Bodine, Steven P., Tolman, Nathanial J., Zerfas, Patricia M., Zheng, Allison, Ramantani, Georgia, Girisha, Katta M., Rivas, Cecilia, Suresh, Pujar V., Elkahloun, Abdel, Alsaif, Hessa S., Wakil, Salma M., Mahmoud, Laila, Ali, Rehab, Prochazkova, Michaela, Kulkarni, Ashok B., Ben-Omran, Tawfeg, Colak, Dilek, Morris, H. Douglas, Rauch, Anita, Martinez-Agosto, Julian A., Nelson, Stanley F., Alkuraya, Fowzan S., Gahl, William A., Malicdan, May Christine V.

“…Neurodevelopmental disorders (NDD) are genetically and phenotypically heterogeneous conditions due to defects in genes involved in development and function of…”
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Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy by Stephen, Joshi, Nampoothiri, Sheela, Banerjee, Aditi, Tolman, Nathanial J., Penninger, Josef Martin, Elling, Ullrich, Agu, Chukwuma A., Burke, John D., Devadathan, Kalpana, Kannan, Rajesh, Huang, Yan, Steinbach, Peter J., Martinis, Susan A., Gahl, William A., Malicdan, May Christine V.

“…Progressive microcephaly and neurodegeneration are genetically heterogenous conditions, largely associated with genes that are essential for the survival of…”
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Abstract A39: Understanding poly-ADP-ribose polymerase (PARP) inhibitor resistance in BRCA2-deficient cells through dual CRISPR knockout and activation screens by Clements, Kristen E., Hale, Anastasia, Tolman, Nathanial J., Moldovan, George-Lucian

“…Cells deficient in the DNA repair pathway homologous recombination (HR) show particular sensitivity to inhibitors of poly-ADP-ribose polymerases (PARPi). Based…”
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Central nervous system involvement of anaplasmosi s by Mullholand, Jon Brandon, Tolman, Nathanial, De Obaldia, Anna, Hennrikus, Eileen

“…A 64-year-old woman presented with 24 hours of lethargy, confusion, headache, nausea and vomiting. Examination revealed expressive aphasia, conjunctival…”
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In vivo evolution of a Klebsiella pneumoniae capsule defect with wcaJ mutation promotes complement-mediated opsono-phagocytosis during recurrent infection by Bain, William, Ahn, Brian, Peñaloza, Hernán F, McElheny, Christi L, Tolman, Nathanial, van der Geest, Rick, Gonzalez-Ferrer, Shekina, Chen, Nathalie, An, Xiaojing, Hosuru, Ria, Tabary, Mohammadreza, Papke, Erin, Kohli, Naina, Farooq, Nauman, Bachman, William, Olonisakin, Tolani F, Xiong, Zeyu, Griffith, Marissa P, Sullivan, Mara, Franks, Jonathan, Mustapha, Mustapha M, Iovleva, Alina, Suber, Tomeka, Shanks, Robert Q, Ferreira, Viviana P, Stolz, Donna B, Van Tyne, Daria, Doi, Yohei, Lee, Janet S

“…Klebsiella pneumoniae carbapenemase-producing K. pneumoniae (KPC-Kp) bloodstream infections are associated with high mortality. We studied clinical bloodstream…”
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In Vivo Evolution of a Klebsiella pneumoniae Capsule Defect With wcaJ Mutation Promotes Complement-Mediated Opsonophagocytosis During Recurrent Infection by Bain, William, Ahn, Brian, Peñaloza, Hernán F, McElheny, Christi L, Tolman, Nathanial, van der Geest, Rick, Gonzalez-Ferrer, Shekina, Chen, Nathalie, An, Xiaojing, Hosuru, Ria, Tabary, Mohammadreza, Papke, Erin, Kohli, Naina, Farooq, Nauman, Bachman, William, Olonisakin, Tolani F, Xiong, Zeyu, Griffith, Marissa P, Sullivan, Mara, Franks, Jonathan, Mustapha, Mustapha M, Iovleva, Alina, Suber, Tomeka, Shanks, Robert Q, Ferreira, Viviana P, Stolz, Donna B, Van Tyne, Daria, Doi, Yohei, Lee, Janet S

“…Klebsiella pneumoniae carbapenemase-producing K pneumoniae (KPC-Kp) bloodstream infections are associated with high mortality. We studied clinical bloodstream…”
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Central nervous system involvement of anaplasmosis by Jon Brandon Mullholand, Tolman, Nathanial, De Obaldia, Anna, Hennrikus, Eileen

“…A 64-year-old woman presented with 24 hours of lethargy, confusion, headache, nausea and vomiting. Examination revealed expressive aphasia, conjunctival…”
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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms by Cassini, Thomas A., Rives, Lynette C., Newman, John H., Koziura, Mary E., Hamid, Rizwan, Adams, Christopher, Adams, David, Alejandro, Mercedes, Allard, Patrick, Ashley, Euan, Bacino, Carlos, Balasubramanyam, Ashok, Barseghyan, Hayk, Bellen, Hugo, Boone, Braden, Bostwick, Bret, Briere, Lauren, Burke, Elizabeth, Burrage, Lindsay, Chao, Katherine, Clark, Gary, Dhar, Shweta, Donnell‐Fink, Laurel, Eckstein, David, Frisby, Trevor, Gartner, Valerie, Godfrey, Rena, Goheen, Mitchell, Golas, Gretchen, Goldstein, David, Gordon, Mary, Gould, Sarah, Gourdine, Jean‐Philippe, Hanchard, Neil, Handley, Lori, Herzog, Matthew, Holm, Ingrid, Howerton, Ellen, Jacob, Howard, Jain, Mahim, Jiang, Yong‐hui, Johnston, Jean, Jones, Angela, Koehler, Alanna, Kohler, Jennefer, Krier, Joel, Lalani, Seema, Latour, Yvonne, Lee, Brendan, Lee, Hane, Lee, Paul, Levy, Shawn, Lewis, Richard, Lincoln, Sharyn, Loscalzo, Joseph, Maas, Richard, MacRae, Calum, Malicdan, May Christine, Mamounas, Laura, McCarty, Alexandra, McCray, Alexa, Might, Matthew, Mulvihill, John, Murphy, Jennifer, Muzny, Donna, Nehrebecky, Michele, Nelson, Stan, Novacic, Donna, Carl Pallais, J, Posey, Jennifer, Potocki, Lorraine, Ramoni, Rachel, Rodan, Lance, Rosenfeld, Jill, Samson, Susan, Schaffer, Katherine, Sharma, Prashant, Shashi, Vandana, Silverman, Edwin, Soldatos, Ariane, Spillmann, Rebecca, Splinter, Kimberly, Stoler, Joan, Stong, Nicholas, Strong, Kimberly, Sullivan, Jennifer, Tifft, Cynthia, Vilain, Eric, Vogel, Tiphanie, Waggott, Daryl, Wahl, Colleen, Waters, Katrina, Webb‐Robertson, Bobbie‐Jo, Westerfield, Monte, Wheeler, Matthew, Wise, Anastasia, Wolfe, Lynne, Worthey, Elizabeth, Yamamoto, Shinya, Yang, Yaping

“…Background Rare variants (RV) in immunoglobulin mu‐binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot‐Marie‐Tooth (CMT)…”
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