Search Results - "Pasumarthi, Divya"

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis by Pasumarthi, Divya, Ranganath, Priya, Mandal, Kausik, Lakshmi, N, Dalal, Ashwin, Aggarwal, Shagun

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Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III by Pasumarthi, Divya, Gupta, Neerja, Sheth, Jayesh, Jain, S. Jamal Md Nurul, Rungsung, Ikrormi, Kabra, Madhulika, Ranganath, Prajnya, Aggarwal, Shagun, Phadke, Shubha R, Girisha, Katta M., Shukla, Anju, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Bhavsar, Riddhi, Mistry, Mehul, Sankar, V. H., Gowrishankar, Kalpana, Agrawal, Divya, Nair, Mohandas, Danda, Sumita, Soni, Jai Prakash, Dalal, Ashwin

“…Mucolipidosis (ML) (OMIM 607840 & 607838) is a rare autosomal recessive inherited disorder that occurs due to the deficiency of golgi enzyme uridine…”
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SERPINA11 related novel serpinopathy – A perinatal lethal disorder by Aggarwal, Shagun, Vineeth, Venugopal Satidevi, Padwal, Shrutika S., Bhat, Sameer Ahmed, Singh, Arpita, Kulkarni, Aditya, Patil, Mallikarjun, Tallapaka, Karthik, Pasumarthi, Divya, Venkatapuram, Vijayasree, Thotakura, Pragna Lakshmi, Dalal, Ashwin, Bhandari, Rashna

“…SERPINA11 is a hitherto poorly characterised gene belonging to Clade A of the SERPIN superfamily, with unknown expression pattern and functional significance…”
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Featured Cover by Aggarwal, Shagun, Vineeth, Venugopal Satidevi, Padwal, Shrutika S., Bhat, Sameer Ahmed, Singh, Arpita, Kulkarni, Aditya, Patil, Mallikarjun, Tallapaka, Karthik, Pasumarthi, Divya, Venkatapuram, Vijayasree, Thotakura, Pragna Lakshmi, Dalal, Ashwin, Bhandari, Rashna

“…The cover image is based on the article SERPINA11 related novel serpinopathy – A perinatal lethal disorder by Shagun Aggarwal et al.,…”
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Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) by Uttarilli, Anusha, Pasumarthi, Divya, Ranganath, Prajnya, Dalal, Ashwin B

“…MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in…”
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Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops by Bhattacherjee, Amrita, Ranganath, Prajnya, Pasumarthi, Divya, Dalal, Ashwin B.

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