Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Linda Z, Rossetti"'
Autor:
Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Naomi Meeks, Mauricio R. Delgado, Jill A. Rosenfeld, Lynn Pais, Susan M. White, Qingchang Meng, Davut Pehlivan, Pengfei Liu, Marie-Claude Gingras, Michael F. Wangler, Donna M. Muzny, James R. Lupski, Craig D. Kaplan, Richard A. Gibbs
Publikováno v:
HGG Advances, Vol 2, Iss 1, Pp 100014- (2021)
Summary: De novo germline variation in POLR2A was recently reported to associate with a neurodevelopmental disorder. We report twelve individuals harboring putatively pathogenic de novo or inherited variants in POLR2A, detail their phenotypes, and ma
Externí odkaz:
https://doaj.org/article/469ff01f4ca548e4a1adff79415aecc4
Autor:
Linda Z. Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C. Mefford, Katie Golden‐Grant, Kristina Tarczy‐Hornoch, Lauren C. Briere, David A. Sweetser, Melissa A. Walker, Elijah Kravets, David A. Stevenson, Georgette Bruenner, Jessica Sebastian, Julia Knapo, Jill A. Rosenfeld, Paul C. Marcogliese, Undiagnosed Diseases Network, Michael F. Wangler
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background CTNNB1 (MIM 116806) encodes beta‐catenin, an adherens junction protein that supports the integrity between layers of epithelial tissue and mediates intercellular signaling. Recently, various heterozygous germline variants in CTN
Externí odkaz:
https://doaj.org/article/97a6e568d81743e7acc39d5e37648a66
Autor:
Paul C. Marcogliese, Samantha L. Deal, Jonathan Andrews, J. Michael Harnish, V. Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M. Longley, Hsiao-Tuan Chao, Hyung-lok Chung, Nele A. Haelterman, Oguz Kanca, Sathiya N. Manivannan, Linda Z. Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto
Publikováno v:
Cell Reports, 38(11):110517. Cell Press
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444111bda1ed722613ad9800aa33c493
https://doi.org/10.1016/j.celrep.2022.110517
https://doi.org/10.1016/j.celrep.2022.110517
Publikováno v:
Molecular Case Studies. 9:a006260
Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. Autosomal recessive OI type VIII is associated with biallelic pathogenic variants inP3H1and classically characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cd0b1f7c63ea4716eb3771d477f11b3
https://doi.org/10.1101/mcs.a006260
https://doi.org/10.1101/mcs.a006260
Autor:
Paul R, Mark, Stephen A, Murray, Tao, Yang, Alexandra, Eby, Angela, Lai, Di, Lu, Jacob, Zieba, Surender, Rajasekaran, Elizabeth A, VanSickle, Linda Z, Rossetti, Lucia, Guidugli, Kelly, Watkins, Meredith S, Wright, Caleb P, Bupp, Jeremy W, Prokop
Publikováno v:
Cold Spring Harbor molecular case studies. 8(6)
We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital heart defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f6b9db394db19435e5c635d3a254a4e7
https://pubmed.ncbi.nlm.nih.gov/36307211
https://pubmed.ncbi.nlm.nih.gov/36307211
Autor:
Pei-Tseng Lee, Hyunglok Chung, J. Michael Harnish, Nicolas Chatron, Marieke F. van Dooren, Colleen M. Longley, Ning Liu, Michael F. Wangler, Sharayu Jangam, Sathiya N. Manivannan, Hsiao-Tuan Chao, Shinya Yamamoto, Hongling Pan, Xi Luo, Alfredo Brusco, Isabelle Sabatier, Martina Wilke, Oguz Kanca, Lisa Pavinato, Eleina M. England, Eva Maria Christina Schwaibold, Danqing Bei, Ronit Marom, Annalisa Vetro, Yu-Hsin Chao, Paul C. Marcogliese, Tahsin Stefan Barakat, Jill A. Rosenfeld, Gaetan Lesca, Samantha L. Deal, V Hemanjani Bhavana, Pankaj B. Agrawal, Brooke Hull, Amanda Gerard, Catherine A. Brownstein, Linda Z. Rossetti, Hillary K. Graves, Jonathan C. Andrews, Chaya N. Murali, Renzo Guerrini, Jill A. Madden, Nele A Haelterman, Roberto Keller, Marjon van Slegtenhorst
SummaryIndividuals with autism spectrum disorders (ASD) exhibit an increased burden ofde novovariants in a broadening range of genes. We functionally tested the effects of ASD missense variants usingDrosophilathrough ‘humanization’ rescue and ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15687904b86384418e0e2659f5215cf8
https://doi.org/10.1101/2020.12.30.424813
https://doi.org/10.1101/2020.12.30.424813
Autor:
Michael C. Braun, Linda Z. Rossetti, Dolores J. Lamb, Mir Reza Bekheirnia, Joshua Manor, Wuyan Chen, Kevin E. Glinton, Nasim Bekheirnia
Publikováno v:
Kidney360
Background As genetic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at our large,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff383138aff321ee61fb90976cfe59d
https://europepmc.org/articles/PMC8785738/
https://europepmc.org/articles/PMC8785738/
Autor:
Kevin E. Glinton, Joshua Manor, Mir Reza Bekheirnia, Linda Z. Rossetti, Michael C. Braun, Nasim Bekheirnia, Wuyan Chen, Dolores J. Lamb
As genetic and genomic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at our large,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57824ebe5bf7d78fb2a22469fc66db1f
Autor:
Lindsay C. Burrage, V. Reid Sutton, Nishitha R. Pillai, Hari Priya Tunuguntala, Brandy Rawls, John A. Goss, Bridget M. Stroup, Fernando Scaglia, Ryan Himes, Brian J. Shayota, Claudia Soler-Alfonso, Anna D. Poliner, Linda Z. Rossetti, William J. Craigen
Publikováno v:
Mol Genet Metab
Background Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dadbd6f541fbce845b026ddf0eb11501
https://europepmc.org/articles/PMC6898966/
https://europepmc.org/articles/PMC6898966/
Autor:
Satyamaanasa Polubothu, Yi-Shan Lee, Lindsay C. Burrage, Adekunle M. Adesina, Daniel J. Curry, Haley Streff, Dana Marafi, Sarah C. McGriff, Peyman Bizargity, Veronica A. Kinsler, Linda Z. Rossetti, Hongzheng Dai, Fernando Scaglia, Irfan Ali, Jill V. Hunter, Vicky Ren, Grace Lee, Joseph M. Sliepka
Publikováno v:
Neurology: Genetics
ObjectiveTo describe the findings of histopathology and genotyping studies in affected brain tissue from an individual with phacomatosis pigmentovascularis (PPV).MethodsA retrospective chart review of a 2-year 10-month-old male with a clinical diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bacb54e294763215429e3b4db6e0fce1
http://europepmc.org/articles/PMC6878837
http://europepmc.org/articles/PMC6878837