Results 31 to 40 of about 1,563 (159)
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
ACR Open Rheumatology, Volume 8, Issue 2, February 2026.Objective
Biallelic loss‐of‐function variants in DNASE1L3 cause inherited systemic lupus erythematosus and hypocomplementemic urticarial vasculitis. These disorders arise from defective clearance of extracellular chromatin, leading to autoantibody formation, immune complex deposition, and complement consumption.Annel Andrea Leon Tenorio, Takeshi Sugio, Jordan Cheng, Devon E. Bonner, Mohammad Shahrokh Esfahani, Sivakanthan Kasinathan, Joyce J. Hsu, Amanda Moyer, Luisa Pimentel Vera, Jennefer Carter, Chloe M. Reuter, Shruti Marwaha, Imelda Balboni, Undiagnosed Diseases Network, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan H. Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, Hongzheng Dai, Hsiao‐Tuan Chao, Ivan Chinn, James P. Orengo, Jill A. Rosenfeld, Kim Worley, Lindsay C. Burrage, Lisa T. Emrick, Lorraine Potocki, Monika Weisz Hubshman, Richard A. Lewis, Ronit Marom, Seema R. Lalani, Shamika Ketkar, Tiphanie P. Vogel, William J. Craigen, Jared Sninsky, Lauren Blieden, Sandesh Nagamani, Hugo J. Bellen, Michael F. Wangler, Oguz Kanca, Shinya Yamamoto, Christine M. Eng, Patricia A. Ward, Pengfei Liu, Adeline Vanderver, Cara Skraban, Edward Behrens, Gonench Kilich, Kathleen Sullivan, Kelly Hassey, Ramakrishnan Rajagopalan, Rebecca Ganetzky, Vishnu Cuddapah, Anna Raper, Daniel J. Rader, Giorgio Sirugo, Anne Slavotinek, Christopher Mayhew, Eneida Mendonca, Ziyuan Guo, Allyn McConkie‐Rosell, Kelly Schoch, Mohamad Mikati, Nicole M. Walley, Rebecca C. Spillmann, Vandana Shashi, Alan H. Beggs, David A. Sweetser, David Chiang, Deepak A. Rao, Frances High, Ganesh Mochida, Gerard T. Berry, Ingrid A. Holm, J. Carl Pallais, Joseph Loscalzo, Lance H. Rodan, Lauren C. Briere, Melissa Walker, Tina Truong, Wendy Chung, Cecilia Esteves, Emily Glanton, Isaac S. Kohane, Kimberly LeBlanc, Shamil R. Sunyaev, Shilpa N. Kobren, Brett H. Graham, Erin Conboy, Francesco Vetrini, Kayla M. Treat, Khurram Liaqat, Lili Mantcheva, Stephanie M. Ware, Kathleen Page, Paul Auwaerter, Yuka Manabe, Carlos A. Pardo‐Villamizar, Julie Hoover‐Fong, Philip Dane Witmer, Winston Timp, Matthew Robinson, Zackary Dov Berger, Elizabeth Wohler, Nara Sobreira, Arian Nouraee, Carlos Prada, Erica Davis, Kai Lee Yap, Kelly Regan‐Fendt, María Paula Silva, Patrick McMullen, Breanna Mitchell, Brendan C. Lanpher, Devin Oglesbee, Eric Klee, Filippo Pinto, Ian R. Lanza, Kahlen Darr, Lindsay Mulvihill, Lisa Schimmenti, Queenie Tan, Surendra Dasari, Abdul Elkadri, Brett Bordini, Donald Basel, James Verbsky, Julie McCarrier, Michael Muriello, Michael T. Zimmermann, Adriana Rebelo, Carson A. Smith, Deborah Barbouth, Guney Bademci, Joanna M. Gonzalez, Kumarie Latchman, LéShon Peart, Mustafa Tekin, Nicholas Borja, Stephan Zuchner, Stephanie Bivona, Willa Thorson, Herman Taylor, Rakale C. Quarells, Ayuko Iverson, Bruce Gelb, Charlotte Cunningham‐Rundles, Eric Gayle, Joanna Jen, Louise Bier, Mafalda Barbosa, Manisha Balwani, Mariya Shadrina, Rachel Evard, Saskia Shuman, Susan Shin, Vaidehi Jobanputra, Andrea Gropman, Barbara N. Pusey Swerdzewski, Camilo Toro, Colleen E. Wahl, Donna Novacic, Ellen F. Macnamara, John J. Mulvihill, Maria T. Acosta, Precilla D'Souza, Valerie V. Maduro, Ben Afzali, Ben Solomon, Cynthia J. Tifft, David R. Adams, Elizabeth A. Burke, Francis Rossignol, Heidi Wood, Jiayu Fu, Joie Davis, Leoyklang Petcharet, Lynne A. Wolfe, Margaret Delgado, Marie Morimoto, Marla Sabaii, MayChristine V. Malicdan, Neil Hanchard, Orpa Jean‐Marie, Wendy Introne, William A. Gahl, Yan Huang, Andrew Stergachis, Danny E. Miller, Elisabeth Rosenthal, Elizabeth Blue, Elsa Balton, Emily Shelkowitz, Eric Allenspach, Fuki M. Hisama, Gail P. Jarvik, Ghayda Mirzaa, Ian Glass, Kathleen A. Leppig, Katrina Dipple, Mark Wener, Martha Horike‐Pyne, Michael Bamshad, Peter Byers, Seth Perlman, Sirisak Chanprasert, Virginia Sybert, Wendy Raskind, Nitsuh K. Dargie, Chun‐Hung Chan, Dr Francisco Bustos Velasquez, Isum Ward, Jason Schend, Jennifer Morgan, Megan Bell, Miranda Leitheiser, Mohamad Saifeddine, Paul Berger, Rachel Li, Taylor Beagle, Alexander Miller, Beatriz Anguiano, Beth A. Martin, Brianna Tucker, Chloe M. Reuter, Devon Bonner, Elijah Kravets, Hector Rodrigo Mendez, Holly K. Tabor, Jacinda B. Sampson, Jason Hom, Jennefer N. Kohler, Jennifer Schymick, John E. Gorzynski, Jonathan A. Bernstein, Kevin S. Smith, Laura Keehan, Laurens Wiel, Matthew T. Wheeler, Meghan C. Halley, Mia Levanto, Page C. Goddard, Paul G. Fisher, Rachel A. Ungar, Raquel L. Alvarez, Sara Emami, Shruti Marwaha, Stephen B. Montgomery, Suha Bachir, Tanner D. Jensen, Taylor Maurer, Terra R. Coakley, Euan A. Ashley, Anna Hurst, Brandon M. Wilk, Bruce Korf, Elizabeth A. Worthey, Kaitlin Callaway, Martin Rodriguez, Pongtawat Lertwilaiwittaya, Reaford Blackburn, Tammi Skelton, Tarun K. K. Mamidi, Teneasha Washington, Andrew B. Crouse, Jordan Whitlock, Mariko Nakano‐Okuno, Matthew Might, William E. Byrd, Albert R. La Spada, Changrui Xiao, Elizabeth C. Chao, Eric Vilain, Jose Abdenur, Kirsten Blanco, Maija‐Rikka Steenari, Rebekah Barrick, Richard Chang, Sanaz Attaripour, Suzanne Sandmeyer, Tahseen Mozaffar, Alden Huang, Andres Vargas, Bianca E. Russell, Brent L. Fogel, Esteban C. Dell'Angelica, George Carvalho, Julian A. Martínez‐Agosto, Layal F. Abi Farraj, Manish J. Butte, Martin G. Martin, Naghmeh Dorrani, Neil H. Parker, Rosario I. Corona, Stanley F. Nelson, Yigit Karasozen, Dana Sayer, Jennifer Tousseau, Aaron Quinlan, Alistair Ward, Ashley Andrews, Corrine K. Welt, Dave Viskochil, Erin E. Baldwin, John Carey, Justin Alvey, Lorenzo Botto, Nicola Longo, Paolo Moretti, Rebecca Overbury, Russell Butterfield, Steven Boyden, Thomas J. Nicholas, Matt Velinder, Gabor Marth, Pinar Bayrak‐Toydemir, Rong Mao, Monte Westerfield, John A. Phillips III, Kimberly Ezell, Lynette Rives, Rizwan Hamid, Alyson Krokosky, Ashley McMinn, Cathy Shyr, Eric Gamazon, Joy D. Cogan, Lakshitha Perera, Lisa Bastarache, Mary Koziura, Thomas Cassini, Alex Paul, Dana Kiley, Daniel Wegner, Erin McRoy, Jennifer Wambach, Kathy Sisco, Patricia Dickson, F. Sessions Cole, Dustin Baldridge, Jimann Shin, Lilianna Solnica‐Krezel, Stephen C. Pak, Timothy Schedl, Allen Bale, Carol Oladele, Caroline Hendry, Emily Wang, Hua Xu, Hui Zhang, Lauren Jeffries, María José Ortuño Romero, Mark Gerstein, Michele Spencer‐Manzon, Monkol Lek, Nada Derar, Odelya Kaufman, Shrikant Mane, Teodoro Jerves Serrano, Vasilis Vasiliou, Winston Halstead, Yong‐Hui Jiang, Matthew T. Wheeler, Jonathan A. Bernstein, Ash Alizadeh, Natalia Gomez‐Ospina +369 morewiley +1 more sourceCase Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism
American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 205-214, January 2026.ABSTRACT
Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...Russell Stewart, Kimberly M. Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan, Rizwan Hamid, Lynette Rives, John A. Phillips III, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A. Ladha, Claudia Soler‐Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B. Sheedy, Undiagnosed Diseases Network, Aaron Quinlan, Abdul Elkadri, Adeline Vanderver, Adriana Rebelo, Alan H. Beggs, Albert R. La Spada, Alden Huang, Alex Paul, Alexander Miller, Ali Al‐Beshri, Alistair Ward, Allen Bale, Allyn McConkie‐Rosell, Alyssa A. Tran, Andrea Gropman, Andres Vargas, Andrew B. Crouse, Andrew Stergachis, Anna Hurst, Anna Raper, Arjun Tarakad, Ashley Andrews, Ashley McMinn, Ashok Balasubramanyam, Barbara N. Pusey Swerdzewski, Beatriz Anguiano, Ben Solomon, Beth A. Martin, Bianca E. Russell, Brandon M Wilk, Breanna Mitchell, Brendan C. Lanpher, Brendan H. Lee, Brent L. Fogel, Brett Bordini, Brett H. Graham, Brian Corner, Brianna Tucker, Bruce Korf, Calum A. MacRae, Camilo Toro, Cara Skraban, Carlos A. Bacino, Carol Oladele, Caroline Hendry, Carson A. Smith, Cecilia Esteves, Changrui Xiao, Chloe M. Reuter, Christine M. Eng, Chun‐Hung Chan, Colleen E. Wahl, Corrine K. Welt, Cynthia J. Tifft, Dana Kiley, Daniel J. Rader, Daniel Wegner, Danny Miller, Daryl A. Scott, Dave Viskochil, David A. Sweetser, David R. Adams, Deborah Barbouth, Deepak A. Rao, Devin Oglesbee, Devon Bonner, Donald Basel, Donna Novacic, Dustin Baldridge, Edward Behrens, Edwin K. Silverman, Elaine Seto, Elijah Kravets, Elisabeth Rosenthal, Elizabeth A Worthey, Elizabeth A. Burke, Elizabeth Blue, Elizabeth C. Chao, Elizabeth L. Fieg, Ellen F. Macnamara, Elsa Balton, Emily Glanton, Emily Shelkowitz, Emily Wang, Eric Allenspach, Eric Klee, Eric Vilain, Erin Conboy, Erin E. Baldwin, Erin McRoy, Esteban C. Dell’Angelica, Euan A. Ashley, F. Sessions Cole, Filippo Pinto, Frances High, Francesco Vetrini, Francis Rossignol, Francisco Bustos, Fuki M. Hisama, Gabor Marth, Gail P. Jarvik, Gary D. Clark, George Carvalho, Gerard T. Berry, Ghayda Mirzaa, Giorgio Sirugo, Gonench Kilich, Guney Bademci, Hector Rodrigo Mendez, Heidi Wood, Herman Taylor, Holly K. Tabor, Hongzheng Dai, Hsiao‐Tuan Chao, Hua Xu, Hugo J. Bellen, Hui Zhang, Ian Glass, Ian R. Lanza, Ingrid A. Holm, Isaac S. Kohane, Isum Ward, Ivan Chinn, J. Carl Pallais, Jacinda B. Sampson, James P. Orengo, James Verbsky, Jared Sninsky, Jason Hom, Jason Schend, Jennefer N. Kohler, Jennifer E. Posey, Jennifer Morgan, Jennifer Schymick, Jennifer Wambach, Jessica Douglas, Jiayu Fu, Jill A. Rosenfeld, Jimann Shin, Joan M. Stoler, Joanna M. Gonzalez, John A. Phillips, John Carey, John E. Gorzynski, John J. Mulvihill, Joie Davis, Jonathan A. Bernstein, Jordan Whitlock, Jose Abdenur, Joseph Loscalzo, Joy D. Cogan, Julian A. Martínez‐Agosto, Julie McCarrier, Justin Alvey, Kahlen Darr, Kaitlin Callaway, Kathleen A. Leppig, Kathleen Sullivan, Kathy Sisco, Kathyrn Singh, Katrina Dipple, Kayla M. Treat, Kelly Hassey, Kelly Schoch, Kevin S. Smith, Khurram Liaqat, Kim Worley, Kimberly Ezell, Kimberly LeBlanc, Kumarie Latchman, Lance H. Rodan, Laura Keehan, Laura Pace, Laurel A. Cobban, Lauren Blieden, Lauren C. Briere, Lauren Jeffries, Laurens Wiel, Layal F. Abi Farraj, Leoyklang Petcharet, LéShon Peart, Lili Mantcheva, Lilianna Solnica‐Krezel, Lindsay C. Burrage, Lindsay Mulvihill, Lisa Schimmenti, Lisa T. Emrick, Lorenzo Botto, Lorraine Potocki, Lynette Rives, Lynne A. Wolfe, Maija‐Rikka Steenari, Manish J. Butte, Margaret Delgado, María José Ortuño Romero, Maria T. Acosta, Marie Morimoto, Mariko Nakano‐Okuno, Mark Gerstein, Mark Wener, Marla Sabaii, Martha Horike‐Pyne, Martin G. Martin, Martin Rodriguez, Matt Velinder, Matthew Coggins, Matthew Might, Matthew T. Wheeler, MayChristine V. Malicdan, Megan Bell, Meghan C. Halley, Melissa Walker, Mia Levanto, Michael Bamshad, Michael F. Wangler, Michael Muriello, Michael Zimmermann, Michele Spencer‐Manzon, Miranda Leitheiser, Mohamad Mikati, Mohamad Saifeddine, Monika Weisz Hubshman, Monkol Lek, Monte Westerfield, Mustafa Tekin, Nada Derar, Naghmeh Dorrani, Neil H. Parker, Neil Hanchard, Nicholas Borja, Nicola Longo, Nicole M. Walley, Nitsuh K. Dargie, Odelya Kaufman, Oguz Kanca, Orpa Jean‐Marie, Page C. Goddard, Paolo Moretti, Patricia A. Ward, Patricia Dickson, Paul Berger, Paul G. Fisher, Pengfei Liu, Peter Byers, Pinar Bayrak‐Toydemir, Precilla D’Souza, Queenie Tan, Rachel A. Ungar, Rachel Li, Rachel Mahoney, Ramakrishnan Rajagopalan, Raquel L. Alvarez, Rebecca C. Spillmann, Rebecca Ganetzky, Rebecca Overbury, Rebekah Barrick, Richard A. Lewis, Richard L. Maas, Rizwan Hamid, Rong Mao, Ronit Marom, Rosario I. Corona, Runjun Kumar, Russell Butterfield, Sanaz Attaripour, Sandesh Nagamani, Sara Emami, Seema R. Lalani, Serena Neumann, Seth Perlman, Shamika Ketkar, Shamil R. Sunyaev, Shilpa N. Kobren, Shinya Yamamoto, Shrikant Mane, Shruti Marwaha, Sirisak Chanprasert, Stanley F. Nelson, Stephan Zuchner, Stephanie Bivona, Stephanie M. Ware, Stephen B Montgomery, Stephen Pak, Steven Boyden, Suha Bachir, Surendra Dasari, Susan Korrick, Suzanne Sandmeyer, Tahseen Mozaffar, Tammi Skelton, Tanner D Jensen, Tarun KK Mamidi, Taylor Beagle, Taylor Maurer, Teodoro Jerves Serrano, Terra R. Coakley, Thomas Cassini, Thomas J. Nicholas, Timothy Schedl, Tiphanie P. Vogel, Vaidehi Jobanputra, Valerie V. Maduro, Vandana Shashi, Vasilis Vasiliou, Virginia Sybert, Vishnu Cuddapah, Wendy Introne, Wendy Raskind, Willa Thorson, William A. Gahl, William E. Byrd, William J. Craigen, Winston Halstead, Yan Huang, Yigit Karasozen, Yong‐Hui Jiang, Thomas Cassini +336 morewiley +1 more sourceOn the Importance of Expert‐Informed Variable Selection in Species Distribution Modelling
Journal of Biogeography, Volume 52, Issue 11, November 2025.ABSTRACT Aim
Species Distribution Models (SDMs) are widely used to map species distribution and predict future responses to climate change. While the risk of selecting biologically non‐relevant predictors has been raised, numerous studies continue to fully rely on statistical approaches to automatically select predictors solely focusing on climate ...Giordano Mancini, Moreno Di Marco, Marta Carboni, Pierfilippo Cerretti, Luigi Maiorano, Luca Santini +5 morewiley +1 more sourceSOCIO-CUL TURAL DYNAMICS OF MURIDIZM MOVEMENT IN CAUCASIA
Fırat Üniversitesi İlahiyat Fakültesi Dergisi, 2007 Although much has been written on Sufısm, . there are only some
sources or writings evaluating the dynarnics of Muridizm mavement in
Circassia in relation with Naqshbandi Sufism.Anzavur Demirpolatdoaj A System Reanalysis of the Current Greenhouse Gases Budget of Terrestrial Ecosystems in Russia
Global Biogeochemical Cycles, Volume 39, Issue 10, October 2025.Abstract
This study synthesizes the budgets of three greenhouse gases (GHG, namely CO2, CH4, N2O) for Russia over two decades (2000–2009 and 2010–2019) using bottom‐up and top‐down approaches, as part of the Regional Carbon Cycle Assessment and Processes, Phase 2 (RECCAP2).Anatoly Shvidenko, Philippe Ciais, Prabir K. Patra, Ana Bastos, Shamil Maksyutov, Ronny Lauerwald, Benjamin Poulter, Dmitry Belikov, Naveen Chandra, Mikhail Glagolev, Irina Terentieva, Dmitry Karelin, Juliya Kurbatova, Irina Kurganova, Anna Romanovskaya, Vladimir Korotkov, Liudmila Mukhortova, Anatoly Prokushkin, Eric Gustafson, Florian Kraxner, Vadim Mamkin, Natalia Lukina, Andrey Krasovskiy, Eugene Vaganov, Dmitry Schepaschenko +24 morewiley +1 more source