Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Sureni V, Mullegama"'
Autor:
Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF
Externí odkaz:
https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd
Autor:
Sureni V. Mullegama, Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman-Englert, Julian A. Martinez-Agosto, Ying Yang, Yuchen Tian, Sarah H. Elsea, Toshihiko Ezashi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract MBD5-associated neurodevelopmental disorder (MAND) is an autism spectrum disorder (ASD) characterized by intellectual disability, motor delay, speech impairment and behavioral problems; however, the biological role of methyl-CpG-binding doma
Externí odkaz:
https://doaj.org/article/e6d18d28ad8c4705b934f15392ca5b20
Autor:
Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intel
Externí odkaz:
https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf
Autor:
Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim
Publikováno v:
Larsen, I S B, Povolo, L, Zhou, L, Tian, W, Mygind, K J, Hintze, J, Jiang, C, Hartill, V, Prescott, K, Johnson, C A, Mullegama, S V, McConkie-Rosell, A, McDonald, M, Hansen, L, Vakhrushev, S Y, Schjoldager, K T, Clausen, H, Worzfeld, T, Joshi, H J & Halim, A 2023, ' The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase ', Proceedings of the National Academy of Sciences of the United States of America, vol. 120, no. 21, pp. e2302584120 . https://doi.org/10.1073/pnas.2302584120
Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome, but the function of the encoded protein remains unknown. We previously reported wide occurrence of O-mannose glycans on extracellular immunoglobulin, plexin, t
Autor:
Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen
Publikováno v:
Brain Sciences, Vol 11, Iss 7, p 931 (2021)
In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series,
Externí odkaz:
https://doaj.org/article/cd8e4dea5b2c48d282be6765b4691c22
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return
Publikováno v:
American Journal of Medical Genetics Part A. 188:3130-3134
Autor:
Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R.P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal
Publikováno v:
Am J Hum Genet
Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to the ribosome, and plays an important role in microRNA-regulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbcbe96535e30d1bd009e97bf4064b59
https://hdl.handle.net/11588/907834
https://hdl.handle.net/11588/907834
Publikováno v:
International Journal of Molecular Sciences, Vol 16, Iss 4, Pp 7627-7643 (2015)
Roughly 20% of autism spectrum disorders (ASD) are syndromic with a well-established genetic cause. Studying the genes involved can provide insight into the molecular and cellular mechanisms of ASD. 2q23.1 deletion syndrome (causative gene, MBD5) is
Externí odkaz:
https://doaj.org/article/e907dcfe90b342f2848ded27fac9d4cc
Autor:
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Renzo Guerrini, David FitzPatrick, Rebecca L. Poole, Marine Lebrun, Allan Bayat, Ute Grasshoff, Miriam Bertrand, Dennis Witt, Peter D. Turnpenny, Víctor Faundes, Lorena Santa María, Carolina Mendoza Fuentes, Paulina Mabe, Shaun A. Hussain, Sureni V. Mullegama, Erin Torti, Barbara Oehl-Jaschkowitz, Lina Basel Salmon, Naama Orenstein, Noa Ruhrman Shahar, Ofir Hagari, Lily Bazak, Sabine Hoffjan, Carlos E. Prada, Tobias Haack, David J. Elliott
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
Transformer2 proteins (Tra2α and Tra2β) control splicing patterns in human cells, and no human phenotypes have been associated with germline variants in these genes. The aim of this work was to associate germline variants in the TRA2B gene to a nov
Autor:
Kerith-Rae Dias, Colleen M. Carlston, Laura E.R. Blok, Lachlan De Hayr, Urwah Nawaz, Carey-Anne Evans, Pinar Bayrak-Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally Ann Lynch, Catherine Moorwood, Karen Stals, Sian Ellard, Matthew N. Bainbridge, Jennifer Friedman, John G. Pappas, Rachel Rabin, Catherine B. Nowak, Jessica Douglas, Theodore E. Wilson, Maria J. Guillen Sacoto, Sureni V. Mullegama, Timothy Blake Palculict, Edwin P. Kirk, Jason R. Pinner, Matthew Edwards, Francesca Montanari, Claudio Graziano, Tommaso Pippucci, Bri Dingmann, Ian Glass, Heather C. Mefford, Takeyoshi Shimoji, Toshimitsu Suzuki, Kazuhiro Yamakawa, Haley Streff, Christian P. Schaaf, Anne M. Slavotinek, Irina Voineagu, John C. Carey, Michael F. Buckley, Annette Schenck, Robert J. Harvey, Tony Roscioli
Publikováno v:
Genetics in Medicine, 24, 9, pp. 1952-1966
Genetics in Medicine, 24, 1952-1966
Genetics in Medicine, 24, 1952-1966
ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a