Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome

Autor: Sakthivel Murugan Sm, Manish Rathi, Krishna L. Gupta, Harbir Singh Kohli, Ritambhra Nada, Niveditha Girimaji, Raja Ramachandran, Ashish Sharma

Publikováno v: Nephrology (Carlton, Vic.)REFERENCES. 25(6)

Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, presenting with nephropathy and extrarenal manifestations such as sensorineural deafness and ocular an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3088b866e7590d3a47513b7c0263657f
https://pubmed.ncbi.nlm.nih.gov/31925849

Mutations in the Telomerase Complex and Expression Levels of the TERT Gene Determine Severity and Outcome of Disease in Aplastic Anemia Patients

Autor: Varun Bafna, Arkasubhra Ghosh, Ravi Gupta, Snigdha Majumder, Shilpa Prabhu, Sakthivel Murugan Sm, Chirantan Bose, Arati Khanna-Gupta, Sharat Damodar, Coral Karunakaran, K.S. Nataraj, Malini Manoharan, Durga Sarvepalli

Publikováno v: Blood. 128:1502-1502

Acquired Aplastic anemia (AA) is a bone marrow failure syndrome characterized by pancytopenia and marrow hypoplasia, and is mediated by immune destruction of hematopoietic stem cells. Mutations in several genes including telomerase, a ribonucleoprote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7941ebc2c1e8e3cb8344a9bd39b43c56
https://doi.org/10.1182/blood.v128.22.1502.1502

Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India.

Autor: Kukkle PL; Department of Neurology, Manipal Hospital, Miller Road, Bangalore, 560052, India.; Department of Neurology, Parkinson's Disease and Movement Disorders Clinic, Bangalore, 560010, India.; Department of Neurology, All India Institute of Medical Sciences, Rishikesh, 249201, India., Geetha TS; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Chaudhary R; Research Department, MedGenome Inc., 348 Hatch Drive, Foster City, CA, 94404, USA., Sathirapongsasuti JF; Research Department, MedGenome Inc., 348 Hatch Drive, Foster City, CA, 94404, USA., Goyal V; Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, 110608, India.; Department of Neurology, Medanta Hospital, New Delhi, 110047, India.; Department of Neurology, Medanta, The Medicity, Gurgaon, 122006, India., Kandadai RM; Department of Neurology, Nizams Institute of Medical Sciences (NIMS), Hyderabad, 500082, India., Kumar H; Department of Neurology, Institute of Neurosciences Kolkata, Kolkata, 700007, India., Borgohain R; Department of Neurology, Nizams Institute of Medical Sciences (NIMS), Hyderabad, 500082, India., Mukherjee A; Department of Neurology, Bangur Institute of Neurosciences and Institute of Post Graduate Medical Education and Research (IPGME&R), Kolkata, 700020, India., Oliver M; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Sunil M; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Mootor MFE; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Kapil S; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Mandloi N; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Wadia PM; Department of Neurology, Jaslok Hospital and Research Centre, Mumbai, 400026, India., Yadav R; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India., Desai S; Department of Neurology, Shree Krishna Hospital and Pramukhswami Medical College, Bhaikaka University, Karamsad, 388325, India., Kumar N; Department of Neurology, All India Institute of Medical Sciences, Rishikesh, 249201, India., Biswas A; Department of Neurology, Bangur Institute of Neurosciences and Institute of Post Graduate Medical Education and Research (IPGME&R), Kolkata, 700020, India., Pal PK; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India., Muthane UB; Department of Neurology, Parkinson and Ageing Research Foundation, Bangalore, 560095, India., Das SK; Department of Neurology, Bangur Institute of Neurosciences and Institute of Post Graduate Medical Education and Research (IPGME&R), Kolkata, 700020, India., Sakthivel Murugan SM; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Peterson AS; Research Department, MedGenome Inc., 348 Hatch Drive, Foster City, CA, 94404, USA., Stawiski EW; Research Department, MedGenome Inc., 348 Hatch Drive, Foster City, CA, 94404, USA., Seshagiri S; GenomeAsia 100K Foundation, Foster City, USA., Gupta R; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Ramprasad VL; Research and Diagnostics Department, MedGenome Labs Pvt Ltd, Bangalore, 560099, India., Prai PRAOI; Hyderabad, 500084, India.

Publikováno v: Advanced biology [Adv Biol (Weinh)] 2022 Nov; Vol. 6 (11), pp. e2101326. Date of Electronic Publication: 2022 Jul 10.

Carrier detection in Duchenne muscular dystrophy using molecular methods.

Autor: Sakthivel Murugan SM; Sundaram Medical Foundation, Chennai, India., Arthi C, Thilothammal N, Lakshmi BR

Publikováno v: The Indian journal of medical research [Indian J Med Res] 2013 Jun; Vol. 137 (6), pp. 1102-10.