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Akademický článek

Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex

Autor: Qifei Li, Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng, Behzad Moghadaszadeh, Alan H. Beggs, Xiaoli Liu, Mark A. Perrella, Pankaj B. Agrawal

Publikováno v: Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 3, Pp 1003-1015 (2024)

Abstract Background Autosomal‐recessive mutations in SPEG (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy with or without dilated cardiomyopathy (CNM5). Loss of SPEG is associated with defective

Externí odkaz: https://doaj.org/article/4a401a4397804f1bafdbce30c8191ed7

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Akademický článek

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

Autor: Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal

Publikováno v: Disease Models & Mechanisms, Vol 17, Iss 8 (2024)

Externí odkaz: https://doaj.org/article/d5f4ed2c3c5d4bf0b9ee27ab5b0d1cf5

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Akademický článek

WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine ProductionSummary

Autor: Amy E. O’Connell, Sathuwarman Raveenthiraraj, Luiz Fernando Silva Oliveira, Comfort Adegboye, Venkata Siva Dasuri, Wanshu Qi, Radhika S. Khetani, Akaljot Singh, Nambirajam Sundaram, Jasmine Lin, Prathima Nandivada, Lorena Rincón-Cruz, Jeffrey D. Goldsmith, Jay R. Thiagarajah, Diana L. Carlone, Jerrold R. Turner, Pankaj B. Agrawal, Michael Helmrath, David T. Breault

Publikováno v: Cellular and Molecular Gastroenterology and Hepatology, Vol 18, Iss 2, Pp 101349- (2024)

Background & aims: Humans with WNT2B deficiency have severe intestinal disease, including significant inflammatory injury, highlighting a critical role for WNT2B. We sought to understand how WNT2B contributes to intestinal homeostasis. Methods: We in

Externí odkaz: https://doaj.org/article/73ecaa07cd064534a6b295fa2a02c92d

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Akademický článek

P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females

Autor: Danny Miller, Camille Dash, David Miller, Miranda Galey, Jasmine Lin, Jill A. Madden, Alan Beggs, Pankaj Agrawal, Casie Genetti, Monica Wojcik

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100737- (2023)

Externí odkaz: https://doaj.org/article/676a0aebfb55401ab6a7cb1b30ee8b28

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Akademický článek

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Akademický článek

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

Autor: Qifei Li, Jasmine Lin, Jeffrey J. Widrick, Shiyu Luo, Gu Li, Yuanfan Zhang, Jocelyn Laporte, Mark A. Perrella, Xiaoli Liu, Pankaj B. Agrawal

Publikováno v: JCI Insight, Vol 7, Iss 15 (2022)

Striated preferentially expressed protein kinase (SPEG), a myosin light chain kinase, is mutated in centronuclear myopathy (CNM) and/or dilated cardiomyopathy. No precise therapies are available for this disorder, and gene replacement therapy is not

Externí odkaz: https://doaj.org/article/870fc49a8fc343bd9a8560d8d94a9b90

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