Zobrazeno 1 - 10
of 9 844
pro vyhledávání: '"B, Agrawal"'
Autor:
Qifei Li, Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng, Behzad Moghadaszadeh, Alan H. Beggs, Xiaoli Liu, Mark A. Perrella, Pankaj B. Agrawal
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 3, Pp 1003-1015 (2024)
Abstract Background Autosomal‐recessive mutations in SPEG (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy with or without dilated cardiomyopathy (CNM5). Loss of SPEG is associated with defective
Externí odkaz:
https://doaj.org/article/4a401a4397804f1bafdbce30c8191ed7
Autor:
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 8 (2024)
Externí odkaz:
https://doaj.org/article/d5f4ed2c3c5d4bf0b9ee27ab5b0d1cf5
Autor:
Raven, J. A.
Publikováno v:
The New Phytologist, 1997 Apr 01. 135(4), 786-788.
Externí odkaz:
https://www.jstor.org/stable/2559017
Autor:
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B. Agrawal, Katherine Agre, Carolyn D. Applegate, Alan H. Beggs, Hans T. Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R. Finnila, Ralitza Gavrilova, Casie A. Genetti, Susan M. Hiatt, Friedhelm Hildebrandt, Monica H. Wojcik, Tjitske Kleefstra, Caroline M. Kolvenbach, Bruce R. Korf, Paul Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R. Blackburn, Margot R. F. Reijnders, Heiko Reutter, Ina Schanze, Joseph T. Shieh, Cathy A. Stevens, Zaheer Valivullah, Marie-José van den Boogaard, Eric W. Klee, Philippe M. Campeau
Publikováno v:
Genes, Vol 15, Iss 8, p 1033 (2024)
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well, h
Externí odkaz:
https://doaj.org/article/bd7727c240f64782b2e5faaddbf4ec0a
Autor:
Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101027- (2024)
FLNC gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in FLNC were initially linked to myofibrillar myopathy and over time, evidence showed
Externí odkaz:
https://doaj.org/article/9d9aa88a1b4445f2b0924b057a3dd0af
Autor:
Pankaj Agrawal, Vineet Bhandari, Casie A Genetti, Margaret Parker, Timothy Yu, Lawrence Rhein, Jessica Douglas, Bharati Sinha, Pankaj B Agrawal, Alissa M D'Gama, Sonia Hills, Vanessa Young, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Tyler Allcroft, Luis Cantu, Alissa M D’Gama, Dynio Honrubia, Amy Kritzer, Robert Rothstein, Odalys Salinas, Andres Santana, Anyssa Serna, Faye Shapiro, Anjana Bhami Shenoy, Lindsey Simoncini, Aubrie Soucy Verran, Anéya Sousa, Qifei Li, Catherine Brownstein, Klaus Schmitz-Abe, Marione Tamase Newsam
Publikováno v:
BMJ Open, Vol 14, Iss 2 (2024)
Introduction Rapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS has primarily been available at large referral centres with the resources and expertise to o
Externí odkaz:
https://doaj.org/article/78ff633befbb42318bff4b3af4e76c91
Autor:
Amy E. O’Connell, Sathuwarman Raveenthiraraj, Luiz Fernando Silva Oliveira, Comfort Adegboye, Venkata Siva Dasuri, Wanshu Qi, Radhika S. Khetani, Akaljot Singh, Nambirajam Sundaram, Jasmine Lin, Prathima Nandivada, Lorena Rincón-Cruz, Jeffrey D. Goldsmith, Jay R. Thiagarajah, Diana L. Carlone, Jerrold R. Turner, Pankaj B. Agrawal, Michael Helmrath, David T. Breault
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 18, Iss 2, Pp 101349- (2024)
Background & aims: Humans with WNT2B deficiency have severe intestinal disease, including significant inflammatory injury, highlighting a critical role for WNT2B. We sought to understand how WNT2B contributes to intestinal homeostasis. Methods: We in
Externí odkaz:
https://doaj.org/article/73ecaa07cd064534a6b295fa2a02c92d
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
Autor:
Renick, Oren
Publikováno v:
Inquiry, 2002 Oct 01. 39(3), 327-327.
Externí odkaz:
https://www.jstor.org/stable/29773030
Autor:
Frances O. Flanagan, Alexander M. Holtz, Sara O. Vargas, Casie A. Genetti, Klaus Schmitz-Abe, Alicia Casey, John C. Kennedy, Benjamin A. Raby, Mary P. Mullen, Martha P. Fishman, Pankaj B. Agrawal
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-5 (2023)
Abstract A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a biphasic clinical course, re-presenting at 15 months of age with tachypnea, interst
Externí odkaz:
https://doaj.org/article/7cd63ea0289d4e10b9f85f6edf0451a6