Search Results - "Ranganath, Prajnya"

MicroRNA-155 and Its Role in Malignant Hematopoiesis by Ranganath, Prajnya

“…MicroRNA-155 (miR-155) is a multifunctional molecule involved in both normal and malignant hematopoiesis. It has been found to be involved in the pathogenesis…”
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Pulmonary manifestations in hyper IgE syndrome: A case series and review of Indian literature by Narahari, Narendra Kumar, Kodati, Rakesh, Ranganath, Prajnya, Kakarla, Bhaskar, Gongati, Paramjyothi

“…Recurrent pulmonary infections starting from childhood often prompt evaluation for primary immunodeficiency disorders (PIDs). Hyper IgE syndrome (HIES) is a…”
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A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4 by Ranganath, Prajnya, Perala, Sreeja, Nair, Lekshmi, Pamu, Pramod Kumar, Shankar, Aparna, Murugan, Sakthivel, Dalal, Ashwin

“…The T-box4 (TBX4) gene (OMIM *601719) belongs to the T-box family of transcription regulators that share a conserved homology domain and are expressed at…”
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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update by Narasimhaiah, Deepti, Uppin, Megha, Ranganath, Prajnya

“…Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course…”
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Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy by Narayanan, Dhanya Lakshmi, Matta, Divya, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Aggarwal, Shagun, Phadke, Shubha R, Datar, Chaitanya, Gowrishankar, Kalpana, Kamate, Mahesh, Jain, Jamal Mohammed Nurul, Dalal, Ashwin

“…Metachromatic leukodystrophy due to Arylsulfatase A enzyme deficiency is an autosomal recessive disorder caused by biallelic variations in ARSA gene. Till date…”
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Copy Number Alteration of Cyclin D1 (CCND 1) Gene as a Prognostic Factor in Oral Squamous Cancers and its Correlation with Immunohistochemistry (IHC) by Ratnagiri, Ranganath, Jena, Shubhranshu, Ranganath, Prajnya, Uppin, Megha S., Shantappa, Rajashekar

“…Background Oral squamous cancers remain the most common cancers among males in India and the third most common cancer among men and women combined, with an age…”
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Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders by Vanaja, Maria, Nurul Jain, Jamal, Dalal, Ashwin, Ranganath, Prajnya

“…Background & objectives: Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in…”
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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation by Sheth, Jayesh, Bhavsar, Riddhi, Mistri, Mehul, Pancholi, Dhairya, Bavdekar, Ashish, Dalal, Ashwin, Ranganath, Prajnya, Girisha, Katta M, Shukla, Anju, Phadke, Shubha, Puri, Ratna, Panigrahi, Inusha, Kaur, Anupriya, Muranjan, Mamta, Goyal, Manisha, Ramadevi, Radha, Shah, Raju, Nampoothiri, Sheela, Danda, Sumita, Datar, Chaitanya, Kapoor, Seema, Bhatwadekar, Seema, Sheth, Frenny

“…Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase…”
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Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype by Narayanan, Dhanya Lakshmi, Ranganath, Prajnya, Balakrishnan, Surya, Dalal, Ashwin

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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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Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy by Nerakh, Gayatri, Ranganath, Prajnya

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Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients by Nampoothiri, Sheela, Yesodharan, Dhanya, Bhattacherjee, Amrita, Ahamed, Hisham, Puri, Ratna Dua, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Bhat, Meenakshi, Phadke, Shubha, Radha Rama Devi, Akella, Jagadeesh, Sujatha, Danda, Sumita, Sylaja, Padmavathy Narayana, Mandal, Kausik, Bijarnia‐Mahay, Sunita, Makkar, Ravinder, Verma, Ishwar Chander, Dalal, Ashwin, Ramaswami, Uma

“…Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of…”
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Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review by Lakkireddy, Maheshwar, Chilakamarri, Vijaykrishna, Ranganath, Prajnya, Arora, Abhishek Jagdishchander, Vanaja, Maria Celestina

“…Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformation of the great toes and disabling heterotopic…”
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Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins by Ranganath, Prajnya, Agarwal, Meenal, Phadke, Shubha R.

“…Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are caused by loss of function of imprinted genes in the 15q11–13 critical region. Reports of PWS and AS…”
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Does Every Child With Autism Need Investigations for Inborn Errors of Metabolism? by Ranganath, Prajnya, Dalal, Ashwin

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Approach to inherited hypertrichosis: A brief review by Buch, Jeta, Ranganath, Prajnya

“…Hypertrichosis refers to the growth of hair, of an excessive amount and thickness, on any part of the body. It must be distinguished from hirsutism which is…”
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Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient by Balakrishnan, Surya, Ranganath, Prajnya

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Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders by Ranganath, Prajnya, Patil, Mallikarjun

“…The "eye-of-the-tiger" sign in brain magnetic resonance imaging (MRI) is typically associated with neurodegeneration with brain iron accumulation disorders,…”
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Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient by Balakrishnan, Surya, Ranganath, Prajnya

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Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy by Nerakh, Gayatri, Ranganath, Prajnya

“…Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of…”
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