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

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

Autor: Khanna-Gupta, Arati ^*, Sarvepalli, Durga ^*, Majumder, Snigdha ^*, Karunakaran, Coral ^*, Manoharan, Malini ^*, Prabhu, Shilpa ^*, Bafna, Varun, III ^*, Murugan SM, Sakthivel ^*, Bose, Chirantan ^*, Gupta, Ravi ^*, KS, Nataraj, Damodar, Sharat ^*, Ghosh, Arkasubhra ^*

Publikováno v: In Blood 2 December 2016 128(22):1502-1502

Pathogenic loss-of-function mutations in LRP1B are associated with poor survival in head and neck cancer patients.

Autor: Arumugam P; Molecular Biology Laboratory, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, India. Electronic address: paramasivama.sdc@saveetha.com., M SM; Department of Oral and Maxillofacial Surgery, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, India., Jayaseelan VP; Clinical Genetics Laboratory, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, India.

Publikováno v: Journal of stomatology, oral and maxillofacial surgery [J Stomatol Oral Maxillofac Surg] 2024 Oct; Vol. 125 (5S2), pp. 101971. Date of Electronic Publication: 2024 Jul 18.

Changes in Andrews' fifth key of occlusion (interproximal contacts) before and after orthodontic treatment.

Autor: Murugan SM; Centre for Early Childhood Caries Research (CECCRe), Department of Pediatric and Preventive Dentistry, Sri Ramachandra Faculty of Dental Sciences, Sri Ramachandra Institute of Higher Education and Research, 600116 Chennai, India.; Centre of Medical and Bio-Allied Health Sciences Research, Ajman University, P.O Box 346, Ajman, United Arab Emirates., Kailasam V; Department of Orthodontics and Dentofacial Orthopedics, Faculty of Dental Sciences, Sri Ramachandra Institute of Higher Education and Research, 600116 Chennai, India., Rao GU; Department of Orthodontics and Dentofacial Orthopedics, Tamil Nadu Government Dental College, 600001 Chennai, India., Krithika C; Oral Medicine and Radiology, Meenakshi Academy of Higher Education and Research, 600078 Chennai, India., Kirthiga M; Centre for Early Childhood Caries Research (CECCRe), Department of Pediatric and Preventive Dentistry, Sri Ramachandra Faculty of Dental Sciences, Sri Ramachandra Institute of Higher Education and Research, 600116 Chennai, India., Aarthi J; Department of Paediatric and Preventive Dentistry, Madha Dental College, 600069 Chennai, India., Warrier A; Department of Oral Medicine and Radiology, Faculty of Dental Sciences, Sri Ramachandra Institute of Higher Education and Research, 600116 Chennai, India.

Publikováno v: The Journal of clinical pediatric dentistry [J Clin Pediatr Dent] 2024 Jul; Vol. 48 (4), pp. 86-98. Date of Electronic Publication: 2024 Jul 03.