Satellite cells, connective tissue fibroblasts and their interactions are crucial for muscle regeneration

Por Murphy, Malea M., Lawson, Jennifer A., Mathew, Sam J., Hutcheson, David A., Kardon, Gabrielle
Publicado em 2011

Transiently Active Wnt/β-Catenin Signaling Is Not Required but Must Be Silenced for Stem Cell Function during Muscle Regeneration

Por Murphy, Malea M., Keefe, Alexandra C., Lawson, Jennifer A., Flygare, Steven D., Yandell, Mark, Kardon, Gabrielle
Publicado no Stem Cell Reports (2014)

Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias

Por Merrell, Allyson J., Ellis, Benjamin J., Fox, Zachary D., Lawson, Jennifer A., Weiss, Jeffrey A., Kardon, Gabrielle
Publicado no Nat Genet (2015)

Muscle stem cells contribute to myofibers in sedentary adult mice

Por Keefe, Alexandra C., Lawson, Jennifer A., Flygare, Steven D., Fox, Zachary D., Colasanto, Mary P., Mathew, Sam J., Yandell, Mark, Kardon, Gabrielle
Publicado no Nat Commun (2015)

Connective tissue fibroblasts and Tcf4 regulate myogenesis

Por Mathew, Sam J., Hansen, Jody M., Merrell, Allyson J., Murphy, Malea M., Lawson, Jennifer A., Hutcheson, David A., Hansen, Mark S., Angus-Hill, Melinda, Kardon, Gabrielle
Publicado em 2011

Evolutionarily conserved morphogenetic movements at the vertebrate head–trunk interface coordinate the transport and assembly of hypopharyngeal structures

Por Lours-Calet, Corinne, Alvares, Lucia E., El-Hanfy, Amira S., Gandesha, Saniel, Walters, Esther H., Sobreira, Débora Rodrigues, Wotton, Karl R., Jorge, Erika C., Lawson, Jennifer A., Kelsey Lewis, A., Tada, Masazumi, Sharpe, Colin, Kardon, Gabrielle, Dietrich, Susanne
Publicado em 2014

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Por Schueler, Markus, Halbritter, Jan, Phelps, Ian G., Braun, Daniela A., Otto, Edgar A., Porath, Jonathan D., Gee, Heon Yung, Shendure, Jay, O’Roak, Brian J., Lawson, Jennifer A., Soliman, Neveen A., Nabhan, Marwa M., Doherty, Dan, Hildebrandt, Friedhelm
Publicado no J Med Genet (2015)

Mutations in SLC26A1 Cause Nephrolithiasis

Por Gee, Heon Yung, Jun, Ikhyun, Braun, Daniela A., Lawson, Jennifer A., Halbritter, Jan, Shril, Shirlee, Nelson, Caleb P., Tan, Weizhen, Stein, Deborah, Wassner, Ari J., Ferguson, Michael A., Gucev, Zoran, Sayer, John A., Milosevic, Danko, Baum, Michelle, Tasic, Velibor, Lee, Min Goo, Hildebrandt, Friedhelm
Publicado no Am J Hum Genet (2016)

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

Por Schapiro, David, Daga, Ankana, Lawson, Jennifer A, Majmundar, Amar J, Lovric, Svjetlana, Tan, Weizhen, Warejko, Jillian K, Fessi, Inés, Rao, Jia, Airik, Merlin, Gee, Heon Yung, Schneider, Ronen, Widmeier, Eugen, Hermle, Tobias, Ashraf, Shazia, Jobst-Schwan, Tilman, van der Ven, Amelie T, Nakayama, Makiko, Shril, Shirlee, Braun, Daniela A, Hildebrandt, Friedhelm
Publicado no Nephrol Dial Transplant (2019)

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

Por Perrault, Isabelle, Halbritter, Jan, Porath, Jonathan D, Gérard, Xavier, Braun, Daniela A, Gee, Heon Yung, Fathy, Hanan M, Saunier, Sophie, Cormier-Daire, Valérie, Thomas, Sophie, Attié-Bitach, Tania, Boddaert, Nathalie, Taschner, Michael, Schueler, Markus, Lorentzen, Esben, Lifton, Richard P, Lawson, Jennifer A, Garfa-Traore, Meriem, Otto, Edgar A, Bastin, Philippe, Caillaud, Catherine, Kaplan, Josseline, Rozet, Jean-Michel, Hildebrandt, Friedhelm
Publicado no J Med Genet (2015)

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

Por Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Hildebrandt, Friedhelm
Publicado no Kidney Int (2016)

Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome

Por Braun, Daniela A., Sadowski, Carolin E., Kohl, Stefan, Lovric, Svjetlana, Astrinidis, Susanne A., Pabst, Werner L., Gee, Heon Yung, Ashraf, Shazia, Lawson, Jennifer A., Shril, Shirlee, Airik, Merlin, Tan, Weizhen, Schapiro, David, Rao, Jia, Choi, Won-Il, Hermle, Tobias, Kemper, Markus J., Pohl, Martin, Ozaltin, Fatih, Konrad, Martin, Bogdanovic, Radovan, Büscher, Rainer, Helmchen, Udo, Serdaroglu, Erkin, Lifton, Richard P., Antonin, Wolfram, Hildebrandt, Friedhelm
Publicado no Nat Genet (2016)

Whole exome sequencing reveals a monogenic cause of disease in ~43% of 35 families with midaortic syndrome

Por Warejko, Jillian K., Schueler, Markus, Vivante, Asaf, Tan, Weizhen, Daga, Ankana, Lawson, Jennifer A., Braun, Daniela A., Shril, Shirlee, Amann, Kassaundra, Somers, Michael J.G., Rodig, Nancy M., Baum, Michelle A., Daouk, Ghaleb, Traum, Avram Z., Kim, Heung Bae, Vakili, Khashayar, Porras, Diego, Lock, James, Rivkin, Michael J., Chaudry, Gulraiz, Smoot, Leslie, Singh, Michael N., Smith, Edward R., Mane, Shrikant M., Lifton, Richard P., Stein, Deborah R., Ferguson, Michael A., Hildebrandt, Friedhelm
Publicado no Hypertension (2018)

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

Por Daga, Ankana, Majmundar, Amar J., Braun, Daniela A., Gee, Heon Yung, Lawson, Jennifer A., Shril, Shirlee, Jobst-Schwan, Tilman, Vivante, Asaf, Schapiro, David, Tan, Weizhen, Warejko, Jillian K., Widmeier, Eugen, Nelson, Caleb P., Fathy, Hanan M., Gucev, Zoran, Soliman, Neveen A., Hashmi, Seema, Halbritter, Jan, Halty, Margarita, Kari, Jameela, El-Desoky, Sherif, Ferguson, Michael A., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daouk, Ghaleb H., Rodig, Nancy M., Katz, Avi, Hanna, Christian, Schwaderer, Andrew L., Sayer, John A., Wassner, Ari J., Mane, Shrikant, Lifton, Richard P., Milosevic, Danko, Tasic, Velibor, Baum, Michelle A., Hildebrandt, Friedhelm
Publicado no Kidney Int (2017)

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Por Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan, Asif, Maria, Hussain, Muhammad Sajid, Daga, Ankana, Widmeier, Eugen, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung, Warejko, Jillian K., Hermle, Tobias, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmüller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroğlu, Erkin, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nürnberg, Peter, Khokha, Mustafa K., Hildebrandt, Friedhelm
Publicado no J Clin Invest (2018)

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Por Warejko, Jillian K., Tan, Weizhen, Daga, Ankana, Schapiro, David, Lawson, Jennifer A., Shril, Shirlee, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Schneider, Ronen, Gee, Heon Yung, Schmidt, J. Magdalena, Vivante, Asaf, van der Ven, Amelie T., Ityel, Hadas, Chen, Jing, Sadowski, Carolin E., Kohl, Stefan, Pabst, Werner L., Nakayama, Makiko, Somers, Michael J.G., Rodig, Nancy M., Daouk, Ghaleb, Baum, Michelle, Stein, Deborah R., Ferguson, Michael A., Traum, Avram Z., Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan, Zenker, Martin, Bakkaloglu, Sevcan A., Müller, Dominik, Noyan, Aytul, Ozaltin, Fatih, Cadnapaphornchai, Melissa A., Hashmi, Seema, Hopcian, Jeffrey, Kopp, Jeffrey B., Benador, Nadine, Bockenhauer, Detlef, Bogdanovic, Radovan, Stajić, Nataša, Chernin, Gil, Ettenger, Robert, Fehrenbach, Henry, Kemper, Markus, Munarriz, Reyner Loza, Podracka, Ludmila, Büscher, Rainer, Serdaroglu, Erkin, Tasic, Velibor, Mane, Shrikant, Lifton, Richard P., Braun, Daniela A., Hildebrandt, Friedhelm
Publicado no Clin J Am Soc Nephrol (2018)

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Por Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, van der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon-Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm
Publicado no Nat Commun (2018)

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

Por Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm
Publicado no Nat Genet (2017)