Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Scott Eisenbeis"'
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Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)
Autor: Stan Krolczyk, Soodabeh Sarafrazi, Lauren Chunn, Patrick Boada, Michael J. Econs, Britt Johnson, Erik A. Imel, Nicole Miller, Mark J. Kiel, Scott Eisenbeis, Sean Daugherty, Prameela Ramesan, Thomas O. Carpenter, Rebecca Truty, Yves Sabbagh, Kariena Dill
Publikováno v: Human mutation. 43(2)
X-linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X chromosome. XLH is inherited in an X-linked pattern with complete penetrance observed for both m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ff3565673b7909942cb8f31a8a74857
https://pubmed.ncbi.nlm.nih.gov/34806794
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3
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program
Autor: Stan Krolczyk, Scott Eisenbeis, Soodabeh Sarafrazi, Eric T. Rush, Britt Johnson, Rebecca Truty, Kathryn Dahir, Prameela Ramesan, Nicole Miller, Swaroop Aradhya, Ana Morales, Daniel Beltran, Sara L. Bristow, Norma E. Guerra
Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 37(2)
X-linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic variants in the PHEX gene, affects both sexes of all ages and results in elevated serum fibroblast growth factor 23 (FGF23) and below-normal serum phosphate. In XLH, rickets, o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74004d8f6ccab8c226fb7578c4a88acb
https://pubmed.ncbi.nlm.nih.gov/34633109
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4
SUN-363 Hypophosphatemia Gene Panel Sponsored Program: A High Yield Of Molecular Diagnoses from Clinically Confirmed XLH and Suspected XLH/ Genetic Hypophosphatemia
Autor: Rebecca Truty, Daniel Beltran, Eric T. Rush, Nicole Miller, Prameela Ramesan, Scott Eisenbeis, Soodabeh Sarafrazi, Kathryn Dahir, Britt Johnson
Publikováno v: Journal of the Endocrine Society
X-linked hypophosphatemia (XLH), an X-linked dominant disorder caused by a pathogenic change (variant) in the PHEX gene, affects males and females of all ages. Rickets and osteomalacia may be present along with short stature, lower limb deformity, mu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85c133956ec0c4f13248c56e0471ffce
http://europepmc.org/articles/PMC7208966
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5
Hypophosphatemia Gene Panel Sponsored Program: A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia
Autor: Kathryn Dahir, Eric Rush, Daniel Beltran, Scott Eisenbeis, Britt Johnson, Prameela Ramesan, Soodabeh Sarafrazi, Rebecca Truty, Nicole Miller
Publikováno v: Journal of the Endocrine Society
X-linked hypophosphatemia (XLH), a dominant disorder caused by a disease-associated variant in the PHEX gene, affects males and females of all ages. Rickets and osteomalacia may be present along with short stature, lower limb deformity, muscle pain a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bc2693a8676f258f72c9e8f9dc0d91b
http://europepmc.org/articles/PMC8265956
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8
Immune depletion with cellular mobilization imparts immunoregulation and reverses autoimmune diabetes in nonobese diabetic mice
Autor: Mark A. Atkinson, Scott Eisenbeis, Clayton E. Mathews, John J. Alexander, Song Xue, Manuela Battaglia, Martha Campbell-Thompson, Michael J. Haller, Clive Wasserfall, Sihong Song, John M. Williams, Desmond A. Schatz, Silvia Gregori, Misty Troutt, Matthew Parker
Publikováno v: Diabetes
OBJECTIVEThe autoimmune destruction of β-cells in type 1 diabetes results in a loss of insulin production and glucose homeostasis. As such, an immense interest exists for the development of therapies capable of attenuating this destructive process t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::788f88621a99ac90737a91aa39de35d4
https://pubmed.ncbi.nlm.nih.gov/19628781
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9
Anti-thymocyte globulin (ATG) differentially depletes naïve and memory T cells and permits memory-type regulatory T cells in nonobese diabetic mice
Autor: Chang-Qing Xia, Mark A. Atkinson, Benjamin M. Looney, Anna V. Chernatynskaya, John M. Williams, Scott Eisenbeis, Suigui Wan, Michael J. Clare-Salzler, Clive Wasserfall
Publikováno v: BMC Immunology, Vol 13, Iss 1, p 70 (2012)
BMC Immunology
Background ATG has been employed to deplete T cells in several immune-mediated conditions. However, whether ATG administration affects naïve and memory T cell differently is largely unknown. The context and purpose of the study In this study, we ass
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80944d921b13e378fcc51a314e92beac
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