Literature DB >> 26008600

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Chitra Ankleshwaria, Mehul Mistri, Ashish Bavdekar, Mamta Muranjan, Usha Dave, Parag Tamhankar, Varun Khanna, Eresha Jasinge, Sheela Nampoothiri, Suresh Edayankara Kadangot, Frenny Sheth, Sarita Gupta, Jayesh Sheth.   

Abstract

Entities:  

Year:  2015        PMID： 26008600     DOI： 10.1038/jhg.2015.27

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  3 in total

1.  Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis.

Authors:  Ankur Singh; Rajniti Prasad; Om Prakash Mishra
Journal:  J Pediatr Genet       Date:  2020-01-02

2.  Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.

Authors:  Yanyan Peng; Benjamin Liou; Venette Inskeep; Rachel Blackwood; Christopher N Mayhew; Gregory A Grabowski; Ying Sun
Journal:  Hum Mol Genet       Date:  2019-10-15       Impact factor: 6.150

3.  Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Authors:  Jayesh Sheth; Riddhi Bhavsar; Mehul Mistri; Dhairya Pancholi; Ashish Bavdekar; Ashwin Dalal; Prajnya Ranganath; Katta M Girisha; Anju Shukla; Shubha Phadke; Ratna Puri; Inusha Panigrahi; Anupriya Kaur; Mamta Muranjan; Manisha Goyal; Radha Ramadevi; Raju Shah; Sheela Nampoothiri; Sumita Danda; Chaitanya Datar; Seema Kapoor; Seema Bhatwadekar; Frenny Sheth
Journal:  BMC Med Genet       Date:  2019-02-14       Impact factor: 2.103
  3 in total

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