Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Sharma, Prashant, Reichert, Marie, Lu, Yan, Markello, Thomas C, Adams, David R, Steinbach, Peter J, Fuqua, Brie K, Parisi, Xenia, Kaler, Stephen G, Vulpe, Christopher D, Anderson, Gregory J, Gahl, William A, Malicdan, May Christine V
Published in PLoS genetics (24.05.2019)
Published in PLoS genetics (24.05.2019)
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Concanavalin A Delivers a Photoactive Protein to the Bacterial Wall
Mussini, Andrea, Delcanale, Pietro, Berni, Melissa, Pongolini, Stefano, Jordà-Redondo, Mireia, Agut, Montserrat, Steinbach, Peter J, Nonell, Santi, Abbruzzetti, Stefania, Viappiani, Cristiano
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Journal Article
Polyproline and the "Spectroscopic Ruler" Revisited with Single-Molecule Fluorescence
Schuler, Benjamin, Lipman, Everett A., Steinbach, Peter J., Kumke, Michael, Eaton, William A., Hochstrasser, Robin M.
Published in Proceedings of the National Academy of Sciences - PNAS (22.02.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (22.02.2005)
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Journal Article
Identifying protein kinase target preferences using mass spectrometry
Douglass, Jacqueline, Gunaratne, Ruwan, Bradford, Davis, Saeed, Fahad, Hoffert, Jason D, Steinbach, Peter J, Knepper, Mark A, Pisitkun, Trairak
Published in American Journal of Physiology: Cell Physiology (01.10.2012)
Published in American Journal of Physiology: Cell Physiology (01.10.2012)
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Drastic neofunctionalization associated with evolution of the timezyme AANAT 500 Mya
Falcón, Jack, Coon, Steven L., Besseau, Laurence, Cazaméa-Catalan, Damien, Fuentès, Michaël, Magnanou, Elodie, Paulin, Charles-Hubert, Boeuf, Gilles, Sauzet, Sandrine, Jørgensen, Even H., Mazan, Sylvie, Wolf, Yuri I., Koonin, Eugene V., Steinbach, Peter J., Hyodo, Susumu, Klein, David C.
Published in Proceedings of the National Academy of Sciences - PNAS (07.01.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (07.01.2014)
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Journal Article
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1
Herman, Matthew L, Farasat, Sharifeh, Steinbach, Peter J, Wei, Ming-Hui, Toure, Ousmane, Fleckman, Philip, Blake, Patrick, Bale, Sherri J, Toro, Jorge R
Published in Human mutation (01.04.2009)
Published in Human mutation (01.04.2009)
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The Tensin-3 Protein, Including its SH2 Domain, Is Phosphorylated by Src and Contributes to Tumorigenesis and Metastasis
Qian, Xiaolan, Li, Guorong, Vass, William C., Papageorge, Alex, Walker, Renard C., Asnaghi, Laura, Steinbach, Peter J., Tosato, Giovanna, Hunter, Kent, Lowy, Douglas R.
Published in Cancer cell (08.09.2009)
Published in Cancer cell (08.09.2009)
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Journal Article
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase
Huppke, Peter, Brendel, Cornelia, Korenke, Georg Christoph, Marquardt, Iris, Donsante, Anthony, Yi, Ling, Hicks, Julia D., Steinbach, Peter J., Wilson, Callum, Elpeleg, Orly, Møller, Lisbeth Birk, Christodoulou, John, Kaler, Stephen G., Gärtner, Jutta
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Journal Article
The ubiquitin pathway in Parkinson's disease
Leroy, Elisabeth, Boyer, Rebecca, Auburger, Georg, Leube, Barbara, Ulm, Gudrun, Mezey, Eva, Harta, Gyongyi, Brownstein, Michael J, Jonnalagada, Sobhanadditya, Chernova, Tanya, Dehejia, Anindya, Lavedan, Christian, Gasser, Thomas, Steinbach, Peter J, Wilkinson, Keith D, Polymeropoulos, Mihael H
Published in Nature (London) (01.10.1998)
Published in Nature (London) (01.10.1998)
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Journal Article
Static Kinks or Flexible Hinges: Multiple Conformations of Bent DNA Bound to Integration Host Factor Revealed by Fluorescence Lifetime Measurements
Connolly, Mitchell, Arra, Aline, Zvoda, Viktoriya, Steinbach, Peter J, Rice, Phoebe A, Ansari, Anjum
Published in The journal of physical chemistry. B (13.12.2018)
Published in The journal of physical chemistry. B (13.12.2018)
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Journal Article
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
Batzios, Spyros, Tal, Galit, DiStasio, Andrew T, Peng, Yanyan, Charalambous, Christiana, Nicolaides, Paola, Kamsteeg, Erik-Jan, Korman, Stanley H, Mandel, Hanna, Steinbach, Peter J, Yi, Ling, Fair, Summer R, Hester, Mark E, Drousiotou, Anthi, Kaler, Stephen G
Published in Human molecular genetics (16.12.2022)
Published in Human molecular genetics (16.12.2022)
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Journal Article
Enhanced spontaneous DNA twisting/bending fluctuations unveiled by fluorescence lifetime distributions promote mismatch recognition by the Rad4 nucleotide excision repair complex
Chakraborty, Sagnik, Steinbach, Peter J, Paul, Debamita, Mu, Hong, Broyde, Suse, Min, Jung-Hyun, Ansari, Anjum
Published in Nucleic acids research (16.02.2018)
Published in Nucleic acids research (16.02.2018)
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HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry
Gourh, Pravitt, Safran, Sarah A., Alexander, Theresa, Boyden, Steven E., Morgan, Nadia D., Shah, Ami A., Mayes, Maureen D., Doumatey, Ayo, Bentley, Amy R., Shriner, Daniel, Domsic, Robyn T., Medsger, Thomas A., Ramos, Paula S., Silver, Richard M., Steen, Virginia D., Varga, John, Hsu, Vivien, Saketkoo, Lesley Ann, Schiopu, Elena, Khanna, Dinesh, Gordon, Jessica K., Kron, Brynn, Criswell, Lindsey A., Gladue, Heather, Derk, Chris T., Bernstein, Elana J., Bridges, S. Louis, Shanmugam, Victoria K., Kolstad, Kathleen D., Chung, Lorinda, Kafaja, Suzanne, Jan, Reem, Trojanowski, Marcin, Goldberg, Avram, Korman, Benjamin D., Steinbacha, Peter J., Chandrasekharappab, Settara C., Mullikinc, James C., Adeyemo, Adebowale, Rotimi, Charles, Wigley, Fredrick M., Kastner, Daniel L., Boin, Francesco, Remmers, Elaine F.
Published in Proceedings of the National Academy of Sciences - PNAS (07.01.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (07.01.2020)
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Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency
Kuhns, Douglas B., Fink, Danielle L., Choi, Uimook, Sweeney, Colin, Lau, Karen, Priel, Debra Long, Riva, Dara, Mendez, Laura, Uzel, Gulbu, Freeman, Alexandra F., Olivier, Kenneth N., Anderson, Victoria L., Currens, Robin, Mackley, Vanessa, Kang, Allison, Al-Adeli, Mehdi, Mace, Emily, Orange, Jordan S., Kang, Elizabeth, Lockett, Stephen J., Chen, De, Steinbach, Peter J., Hsu, Amy P., Zarember, Kol A., Malech, Harry L., Gallin, John I., Holland, Steven M.
Published in Blood (27.10.2016)
Published in Blood (27.10.2016)
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Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
Morimoto, Marie, Ryu, Eunjin, Steger, Benjamin J., Dixit, Abhijit, Saito, Yoshihiko, Yoo, Juyeong, van der Ven, Amelie T., Hauser, Natalie, Steinbach, Peter J., Oura, Kazumasa, Huang, Alden Y., Kortüm, Fanny, Ninomiya, Shinsuke, Rosenthal, Elisabeth A., Robinson, Hannah K., Guegan, Katie, Denecke, Jonas, Subramony, Sankarasubramoney H., Diamonstein, Callie J., Ping, Jie, Fenner, Mark, Balton, Elsa V., Strohbehn, Sam, Allworth, Aimee, Bamshad, Michael J., Gandhi, Mahi, Dipple, Katrina M., Blue, Elizabeth E., Jarvik, Gail P., Lau, C. Christopher, Holm, Ingrid A., Weisz-Hubshman, Monika, Solomon, Benjamin D., Nelson, Stanley F., Nishino, Ichizo, Adams, David R., Kang, Sukhyun, Gahl, William A., Toro, Camilo, Myung, Kyungjae, Malicdan, May Christine V.
Published in American journal of human genetics (05.09.2024)
Published in American journal of human genetics (05.09.2024)
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