Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Phaik Har Lim"'
P109: Heterozygous loss-of-function variants in IFT140 are associated with polycystic kidney disease
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100138- (2023)
Externí odkaz:
https://doaj.org/article/ab0df3d629c84f6da4db48767f7aa869
Autor:
Bryan J. Gall, Trevor B. Smart, Robin Munch, Supraja Kolluri, Hamsa Tadepally, Karen Phaik Har Lim, Zachary P. Demko, Peter Benn, Vivienne Souter, Nina Sanapareddy, Dianne Keen‐Kim
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Background Automation has been introduced into variant interpretation, but it is not known how automated variant interpretation performs on a stand‐alone basis. The purpose of this study was to evaluate a fully automated computerized appro
Externí odkaz:
https://doaj.org/article/c7321ea98cd74647b99b4d9e7cb1ca8a
Autor:
Karen Phaik Har Lim, Paul Milne, Michael Poidinger, Kaibo Duan, Howard Lin, Naomi McGovern, Harshal Abhyankar, Daniel Zinn, Thomas M. Burke, Olive S. Eckstein, Rikhia Chakraborty, Amel Sengal, Brooks Scull, Evan Newell, Miriam Merad, Kenneth L. McClain, Tsz-Kwong Man, Florent Ginhoux, Matthew Collin, Carl E. Allen
Publikováno v:
Blood Advances, Vol 4, Iss 1, Pp 87-99 (2020)
Abstract: Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder that is characterized by the inflammatory lesions with pathogenic CD1a+CD207+ dendritic cells (DCs). BRAFV600E and other somatic activating MAPK gene mutations have been i
Externí odkaz:
https://doaj.org/article/c86f478e226541b0bac33e2a435850d6
Autor:
Michael Poidinger, Howard Lin, Kaibo Duan, Miriam Merad, Kenneth L. McClain, Naomi McGovern, Daniel J. Zinn, Evan W. Newell, Brooks Scull, Carl E. Allen, Rikhia Chakraborty, Florent Ginhoux, Karen Phaik Har Lim, Tsz-Kwong Man, Olive S. Eckstein, Thomas M. Burke, Matthew Collin, Harshal Abhyankar, Amel Sengal, Paul Milne
Publikováno v:
Blood Advances. 4:87-99
Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder that is characterized by the inflammatory lesions with pathogenic CD1a(+)CD207(+) dendritic cells (DCs). BRAFV600E and other somatic activating MAPK gene mutations have been identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::075ba5ff7cee4ad9710827856cea3841
https://doi.org/10.1182/bloodadvances.2019000488
https://doi.org/10.1182/bloodadvances.2019000488
Autor:
Zoi Karoulia, Marylene Leboeuf, Romain Remark, Miriam Merad, Brandon Hogstad, Poulikos I. Poulikakos, Marie-Luise Berres, Wing-hong Kwan, Howard Lin, Kenneth L. McClain, Jerry E. Chipuk, Hélène Salmon, Madhavika N. Serasinghe, Camille Bigenwald, Stefan Jordan, Veronika Kana, Karen Phaik Har Lim, Carl E. Allen, EF Brandt, Jun Tang, Tsz-Kwong Man, Willem J. M. Mulder, Rikhia Chakraborty, Samantha Baxter
Publikováno v:
Journal of experimental medicine, 215(1), 319-336. Rockefeller University Press
The Journal of Experimental Medicine
The Journal of Experimental Medicine
Hogstad et al. show that the somatic BRAFV600E mutation in myeloid dendritic cell precursors in Langerhans cell histiocytosis promotes lesion formation through impaired dendritic cell migration and resistance to apoptosis, which can be rescued with t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fcb0053da9fd182e38a234fc4cf7b64
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85039948009&origin=inward
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85039948009&origin=inward
Autor:
Phaik Har Lim, Nilambari P Pisat, Nidhi Gadhia, Abhinav Pandey, Frank X Donovan, Lauren Stein, David E Salt, David J Eide, Colin W MacDiarmid
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e20896 (2011)
Mg homeostasis is critical to eukaryotic cells, but the contribution of Mg transporter activity to homeostasis is not fully understood. In yeast, Mg uptake is primarily mediated by the Alr1 transporter, which also allows low affinity uptake of other
Externí odkaz:
https://doaj.org/article/db60c2e2ccbd4457bcbe205036f83e2c
Autor:
Xiaoyun Shen, Lisa R. Trevino, Karen C. Dwyer, D. Williams Parsons, Albert Shih, David A. Wheeler, Miriam Merad, Donna M. Muzny, M. John Hicks, Karen Phaik Har Lim, Marie-Luise Berres, Linghua Wang, Diana L. Bonilla, Philip J. Lupo, Poulikos I. Poulikakos, Oliver A. Hampton, Kenneth L. McClain, Jianhong Hu, Harshal Abhyankar, Carl E. Allen, Ninad Dewal, Harshavardhan Doddapaneni, Rikhia Chakraborty, Kyle R. Covington, Stephen J. Simko
Publikováno v:
Blood. 124:3007-3015
Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207+ dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5fd28ac70c41b6a4306c51a77c255ef
https://doi.org/10.1182/blood-2014-05-577825
https://doi.org/10.1182/blood-2014-05-577825
Autor:
M. John Hicks, Benjamin Garmezy, Karen Phaik Har Lim, Rikhia Chakraborty, Carl E. Allen, Stephen J. Simko, Teresa S. Wright, Kenneth L. McClain, Moise L. Levy, Albert Shih, Harshal Abhyankar, Philip J. Lupo
Publikováno v:
The Journal of Pediatrics. 165:990-996
Objective To identify features associated with multisystem involvement and therapeutic failure in patients with skin Langerhans cell histiocytosis (LCH). Study design We reviewed medical records of 71 consecutive patients with LCH with skin involveme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f314c43bec4d3e256459ff0c69739a9f
https://doi.org/10.1016/j.jpeds.2014.07.063
https://doi.org/10.1016/j.jpeds.2014.07.063
Autor:
David A. Wheeler, Daniel J. Zinn, Poulikos I. Poulikakos, Oliver A. Hampton, Vijetha Kumar, D. Williams Parsons, Harshal Abhyankar, Rikhia Chakraborty, Carl E. Allen, Nipun Kakkar, Angshumoy Roy, Brooks Scull, Kenneth L. McClain, Miriam Merad, Thomas M. Burke, Karen Phaik Har Lim
Publikováno v:
Blood. 128(21)
Langerhans cell histiocytosis (LCH) is characterized by inflammatory lesions containing pathologic CD207+ dendritic cells with constitutively activated ERK. Mutually exclusive somatic mutations in MAPK pathway genes have been identified in ∼75% of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e28eda50cc3b1d7d43e5007bdcc7cfd
https://pubmed.ncbi.nlm.nih.gov/27729324
https://pubmed.ncbi.nlm.nih.gov/27729324
Autor:
Hitoshi Takizawa, M. John Hicks, Carl E. Allen, Harshal Abhyankar, Juliana Idoyaga, Stephen J. Simko, Albert Ruzo, Philip J. Lupo, Miriam Merad, Björn E. Clausen, Albert Shih, Marie-Luise Berres, Tricia L. Peters, Rikhia Chakraborty, Kenneth Heym, Hélène Salmon, Sergio A. Lira, Matthew Collin, Marylene Leboeuf, Markus G. Manz, Kenneth L. McClain, Monique Beltrão, Karen Phaik Har Lim, Venetia Bigley, Jeremy Price
Publikováno v:
The Journal of Experimental Medicine
BRAF-V600E expression is identified in hematopoietic progenitor and precursor myeloid dendritic cells in patients with high-risk LCH, and enforced expression of BRAF-V600E in CD11c+ cells recapitulates a high-risk LCH-like phenotype in mice.
Lan
Lan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99df9a771ccaed1a6dd6425737959912
https://pubmed.ncbi.nlm.nih.gov/25646268
https://pubmed.ncbi.nlm.nih.gov/25646268