Simran Madan
Baylor College of Medicine
4 Papers
Simran Madan is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Biology & Exome. The author has an hindex of 3, co-authored 4 publications.
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Papers
Whole Exome Sequencing Identifies Mutations in the Nucleoside Transporter Gene SLC29A3 in Dysosteosclerosis, a Form of Osteopetrosis
Philippe M. Campeau,James T. Lu,Gautam Sule,Ming-Ming Jiang,Yangjin Bae,Simran Madan,Wolfgang Högler,Nicholas Shaw,Steven Mumm,Steven Mumm,Richard A. Gibbs,Michael P. Whyte,Michael P. Whyte,Brendan Lee +13 more
TL;DR: This report highlights the pleomorphic consequences of dysfunction of this nucleoside transporter, and importantly suggests a new mechanism for the control of osteoclast differentiation and function, and demonstrates the expression of Slc29a3 in mouse osteoclasts in vivo.
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia
Simran Madan,Wei Liu,James T. Lu,V. Reid Sutton,Bryant A. Toth,Priscilla Joe,John R. Waterson,Richard A. Gibbs,Ignatia B. Van den Veyver,Edward J. Lammer,Philippe M. Campeau,Brendan Lee,Brendan Lee +12 more
TL;DR: The survival of a male with a non-mosaic mutation in PORCN is suggestive of a functionally mild mutation leading to an X-linked recessive mode of inheritance.
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Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency
Lindsay C. Burrage,Simran Madan,Xiaohui Li,Saima Ali,Mahmoud A. Mohammad,Bridget M. Stroup,Ming-Ming Jiang,Racel Cela,Terry Bertin,Zixue Jin,Jian Dai,Danielle Guffey,Milton J. Finegold,Sandesh C.S. Nagamani,Sandesh C.S. Nagamani,Charles G. Minard,Juan C. Marini,Prakash Masand,Deborah Schady,Benjamin L. Shneider,Daniel H. Leung,Daniel H. Leung,Deeksha Bali,Brendan Lee,Brendan Lee +24 more
TL;DR: The results link urea cycle dysfunction and impaired hepatic glucose metabolism and impaired liver stiffness even in individuals with ASLD and normal aminotransferases to identify a mouse model of liver disease in the setting of urea Cycle dysfunction.
Arginase overexpression in neurons and its effect on traumatic brain injury
Simran Madan,Bettina Kron,Zixue Jin,George Al Shamy,Philippe M. Campeau,Qin Sun,Shan Chen,Leela Cherian,Yuqing Chen,Elda Munivez,Ming-Ming Jiang,Claudia S. Robertson,Clay Goodman,Rajiv R. Ratan,Brendan Lee +14 more
TL;DR: Enhanced neuronal arginase levels are established as a strategy to affect the course of TBI and support is provided for the potential role of neuronal NO production in this condition.