Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Lisa Cole Burnett"'
Autor:
Daniel Woodard, Dylan Bell, David Tipton, Samuel Durrance, Lisa Cole Burnett, Bin Li, Shaohua Xu
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94789 (2014)
Amyloid fibers are associated with disease but have little chemical reactivity. We investigated the formation and structure of amyloids to identify potential mechanisms for their pathogenic effects. We incubated lysozyme 20 mg/ml at 55C and pH 2.5 in
Externí odkaz:
https://doaj.org/article/d0669a8928f74f91ab57631b89c46c5e
Autor:
Lisa Cole Burnett, Françoise Conte Auriol, Eric Bieth, Jean Pierre Salles, Juliette Salles, Maithé Tauber, Gwenaelle Diene, Catherine Molinas, Rudolph L. Leibel, Boris V. Skryabin, Isabelle Gennero, Timofey S. Rozhdestvensky, Sanaa Eddiry
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 23 (9), pp.1664-1672. ⟨10.1038/s41436-021-01185-y⟩
Genetics in Medicine, 2021, 23 (9), pp.1664-1672. ⟨10.1038/s41436-021-01185-y⟩
International audience; Purpose: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction due to deficiency of imprinted genes located on the 15q11-q13 chromosome. Among them, the SNORD116 gene appears critical for t
Autor:
Linshan Shang, Yiying Zhang, Damian J. Williams, Dieter Egli, Rudolph L. Leibel, Deyou Zheng, Liheng Wang, Lina Sui, Maria Caterina De Rosa, Sunil K Panigrahi, Robin Goland, Hannah J. Glover, Lisa Cole Burnett, George Stratigopoulos, Claudia A. Doege, Sharon L. Wardlaw, Yang Liu, Stephen H. Tsang, Charles A. LeDuc
Publikováno v:
J Clin Invest
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and is characterized by hyperphagic obesity. To investigate the molecular basis of obesity in human BBS, we deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5260dbd8dd2a88ed7d4ad12b4f75a2e5
https://europepmc.org/articles/PMC8262481/
https://europepmc.org/articles/PMC8262481/
Autor:
M. C. De Rosa, Claudia A. Doege, Rudy Leibel, Stephen H. Tsang, Linshan Shang, Dieter Egli, Damian J. Williams, Liheng Wang, Lina Sui, George Stratigopoulos, Lisa Cole Burnett, Robin Goland, Yang Liu, Deyou Zheng, Sharon L. Wardlaw, Sunil K Panigrahi, Charles A. LeDuc, Hannah J. Glover
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and characterized by hyperphagic obesity. We developed a cellular model of BBS using induced pluripotent stem ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b1449fd25ca3636f71256bcffeab4e5
https://doi.org/10.1101/2020.10.29.359851
https://doi.org/10.1101/2020.10.29.359851
Autor:
Patrick Ryan Potts, Li Ding, Heather Tillman, Derek J. C. Tai, Klementina Fon Tacer, Lisa Cole Burnett, Helen Chen, Michael E. Talkowski, John R. Yates, Daniel D. Billadeau, Yiying Zhang, Lawrence T. Reiter, James J. Moresco, Celine E. F. De Esch, Jolene K. Diedrich, A. Kaitlyn Victor, Jonathon Klein, Rudolph L. Leibel, Jamshid Temirov, Michael Rosenbaum, Alexander Nuttle
Publikováno v:
JCI Insight
JCI Insight, Vol 5, Iss 17 (2020)
JCI Insight, Vol 5, Iss 17 (2020)
Prader-Willi syndrome (PWS) is a developmental disorder caused by loss of maternally imprinted genes on 15q11-q13, including melanoma antigen gene family member L2 (MAGEL2). The clinical phenotypes of PWS suggest impaired hypothalamic neuroendocrine
Autor:
Qiming Tan, Lisa Cole Burnett, Andrea M. Haqq, Camila E. Orsso, Davis C Ryman, Mark Inman, Kathryn J Potter
Publikováno v:
Genes
Genes, Vol 11, Iss 2, p 128 (2020)
Genes, Vol 11, Iss 2, p 128 (2020)
We report a 17-year-old boy who met most of the major Prader−Willi syndrome (PWS) diagnostic criteria, including infantile hypotonia and poor feeding followed by hyperphagia, early-onset morbid obesity, delayed development, and characteristic facia
Autor:
Kylie S. Foo, Yossef Goffer, Alicja A. Skowronski, Charles A. LeDuc, Lisa Cole Burnett, Dieter Egli, Rudolph L. Leibel
Publikováno v:
Sci Transl Med
Leptin plays a role in CNS developmental programs and intercurrent physiological processes related to body fat regulation. The timing and neuro-molecular mechanisms for these effects are relevant to the prevention and treatment of obesity. Factors im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331ccf1cda1214f8186144782be8184c
https://europepmc.org/articles/PMC7427106/
https://europepmc.org/articles/PMC7427106/
Autor:
Richard Rausch, Michael V. Morabito, Béatrice Dubern, Liheng Wang, Gabriela Hubner, Michael Rosenbaum, Lisa Cole Burnett, Daniel Paull, Jayne F. Martin Carli, Charles A. LeDuc, Dieter Egli, Matthew Zimmer, Sanaa Eddiry, Alicja A. Skowronski, Daniel J. Driscoll, Christine Poitou, Brynn Levy, Merlin G. Butler, Robert Day, Carlos R. Sulsona, Rudolph L. Leibel, Karine Clément, Jean Pierre Salles, Ilene Fennoy, Maithé Tauber
Publikováno v:
Journal of Clinical Investigation. 127:293-305
Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions
Publikováno v:
International journal of obesity (2005)
Background The adipokine hormone, leptin, is a major component of body weight homeostasis. Numerous studies have been performed administering recombinant mouse leptin as an experimental reagent; however, the half life of circulating leptin following
Autor:
Sanaa Eddiry, Maithé Tauber, Daniel Paull, Brynn Levy, Carlos R. Sulsona, Jean Pierre Salles, Dieter Egli, Rudolph L. Leibel, Charles A. LeDuc, Daniel J. Driscoll, Lisa Cole Burnett
Publikováno v:
Stem Cell Res
Prader-Willi syndrome (PWS) is a syndromic obesity caused by loss of paternal gene expression in an imprinted interval on 15q11.2-q13. Induced pluripotent stem cells were generated from skin cells of three large deletion PWS patients and one unique m