Zobrazeno 1 - 10 of 24 pro vyhledávání: '"Ashish R. Deshwar"'
1
Akademický článek
Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
Autor: Sophie Karolczak, Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti, Jonathan Volpatti, Jillian L. Ellis, Chunyue Yin, James J. Dowling
Publikováno v: The Journal of Clinical Investigation, Vol 133, Iss 18 (2023)
X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, although AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily i
Externí odkaz: https://doaj.org/article/abfd1acb3f994c4088ffb37901d8f229
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2
Akademický článek
A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
Autor: Alyssa C. M. Joynt, Ashish R. Deshwar, Jessica Zon, Lucie Dupuis, Diane K. Wherrett, Roberto Mendoza‐Londono
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q/monosomy 13q. In this report, we describe a second patient with a similar rearrang
Externí odkaz: https://doaj.org/article/1cbe99f8c96c431e9902bb75e780f41a
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8
Akademický článek
The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development
Autor: Ashish R Deshwar, Serene C Chng, Lena Ho, Bruno Reversade, Ian C Scott
Publikováno v: eLife, Vol 5 (2016)
The Apelin receptor (Aplnr) is essential for heart development, controlling the early migration of cardiac progenitors. Here we demonstrate that in zebrafish Aplnr modulates Nodal/TGFβ signaling, a key pathway essential for mesendoderm induction and
Externí odkaz: https://doaj.org/article/97bf3e6b876d4c03a1a021143bf49333
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9
A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate
Autor: David Chitayat, Patrick Shannon, Ashish R. Deshwar, Nicole Martin
Publikováno v: Clinical Genetics. 98:299-302
Neural tube defects (NTD) are among the most common congenital anomalies, affecting about 1:1000 births. In most cases, the etiology of NTD is multifactorial and the genetic variants associated with them remain largely unknown. There is extensive evi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9243d1864eb1fad0baf2211426031fd
https://doi.org/10.1111/cge.13804
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10
A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
Autor: Lucie Dupuis, Roberto Mendoza-Londono, Alyssa C. M. Joynt, Jessica Zon, Ashish R. Deshwar, Diane K. Wherrett
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Background Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q/monosomy 13q. In this report, we describe a second patient with a similar rearrangement ari
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54d9bf7ff6030d0df3da44125b3d8bb
https://doaj.org/article/1cbe99f8c96c431e9902bb75e780f41a
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Plný text Recenzováno Digitální knihovna AV ČR
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