Search Results - "Nurul Jain, Jamal"

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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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency by Deshpande, Dipti, Gupta, Shailesh Kumar, Sarma, Asodu Sandeep, Ranganath, Prajnya, Jain S., Jamal Md Nurul, Sheth, Jayesh, Mistri, Mehul, Gupta, Neerja, Kabra, Madhulika, Phadke, Shubha R., Girisha, Katta M., Dua Puri, Ratna, Aggarwal, Shagun, Datar, Chaitanya, Mandal, Kausik, Tilak, Preetha, Muranjan, Mamta, Bijarnia‐Mahay, Sunita, Rama Devi A., Radha, Tayade, Naresh B., Ranjan, Akash, Dalal, Ashwin B.

“…Pathogenic variations in SMPD1 lead to acid sphingomyelinase deficiency (ASMD), that is, Niemann‐Pick disease (NPD) type A and B (NPA, NPB), which is a…”
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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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Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders by Vanaja, Maria Celestina, Nurul Jain, Jamal Mohammed, Dalal, Ashwin, Ranganath, Prajnya

“…Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in other lysosomal components…”
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Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India by Nair, Lekshmi S., Nurul Jain, Jamal Mohammed, Dalal, Ashwin, Ranganath, Prajnya

“…White matter (WM) disorders with a genetic etiology are classified as leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs). There are very few…”
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Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians by Naushad, SM, Jamal, Md Nurul Jain, Angalena, R, Prasad, C Krishna, Devi, A Radha Rama

“…To investigate the role of methylene tetrahydrofolate reductase (MTHFR) (677 C→T and 1298 A→C), factor V (1691 G→A), factor II (20210 G→A) genetic…”
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Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation by Aggarwal, Shagun, Coutinho, Maria Francisca, Dalal, Ashwin B., Mohamed Nurul Jain, S.Jamal, Prata, Maria João, Alves, Sandra

“…We report a neonate who was diagnosed as a case of skeletal dysplasia during pregnancy, and was subsequently diagnosed as a case of MLII alpha/beta on the…”
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Relationship between methionine synthase, methionine synthase reductase genetic polymorphisms and deep vein thrombosis among South Indians by Naushad, Shaik Mohammad, Jain Jamal, Mohamed Nurul, Prasad, Chintakindi Krishna, Rama Devi, Akella Radha

“…The rationale behind this study was to examine the relationship between polymorphisms in genes that regulate remethylation of homocysteine to methionine, i.e.,…”
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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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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI by Uttarilli, Anusha, Ranganath, Prajnya, Jain, S Jamal Md Nurul, Prasad, C Krishna, Sinha, Anupam, Verma, Ishwar C, Phadke, Shubha R, Puri, Ratna D, Danda, Sumita, Muranjan, Mamta N, Jevalikar, Ganesh, Nagarajaram, H A, Dalal, Ashwin B

“…Mucopolysaccharidosis type VI (MPS VI) is a rare, autosomal recessive lysosomal storage disorder caused by deficient enzymatic activity of N-acetyl…”
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Genetic and environmental influences on total plasma homocysteine and coronary artery disease (CAD) risk among South Indians by Vinukonda, Govindaiah, Shaik Mohammad, Naushad, Md Nurul Jain, Jamal, Prasad Chintakindi, Krishna, Rama Devi Akella, Radha

“…Hyperhomocysteinemia, a documented risk factor for CAD is highly prevalent in Indians. The rationale behind the current study is to explore the genetic and…”
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Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease by Ranganath, Prajnya, Matta, Divya, Bhavani, Gandham SriLakshmi, Wangnekar, Savita, Jain, Jamal Mohammed Nurul, Verma, Ishwar C., Kabra, Madhulika, Puri, Ratna D., Danda, Sumita, Gupta, Neerja, Girisha, Katta M., Sankar, Vaikom H., Patil, Siddaramappa J., Devi, Akella Radha Rama, Bhat, Meenakshi, Gowrishankar, Kalpana, Mandal, Kausik, Aggarwal, Shagun, Tamhankar, Parag Mohan, Tilak, Preetha, Phadke, Shubha R., Dalal, Ashwin

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Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype by Aggarwal, Shagun, Jain, S. Jamal Mohamed Nurul, Bhowmik, Aneek D., Tandon, Ashwani, Dalal, Ashwin

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GALNS mutations in Indian patients with mucopolysaccharidosis IVA by Bidchol, Abdul Mueed, Dalal, Ashwin, Shah, Hitesh, S, Suryanarayana, Nampoothiri, Sheela, Kabra, Madhulika, Gupta, Neerja, Danda, Sumita, Gowrishankar, Kalpana, Phadke, Shubha R., Kapoor, Seema, Kamate, Mahesh, Verma, I.C., Puri, Ratna Dua, Sankar, V.H., Devi, A. Radha Rama, Patil, S.J., Ranganath, Prajnya, Jain, S. Jamal Md Nurul, Agarwal, Meenal, Singh, Ankur, Mishra, Pallavi, Tamhankar, Parag M., Gopinath, Puthiya Mundyat, Nagarajaram, H.A., Satyamoorthy, Kapaettu, Girisha, Katta Mohan

“…ABSTRACT Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase…”
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Autistic children exhibit distinct plasma amino acid profile by Naushad, Shaik Mohammad, Jain, Jamal Md Nurul, Prasad, Chintakindi Krishna, Naik, Usha, Akella, Radha Rama Devi

“…In order to ascertain whether autistic children display characteristic metabolic signatures that are of diagnostic value, plasma amino acid analyses were…”
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A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series by Aggarwal, Shagun, Tandon, Ashwani, Das Bhowmik, Aneek, Safarulla, Jamal Mohamed Nurul Jain, Dalal, Ashwin

“…Background. This retrospective study assesses the contribution of genetic disorders in fetuses undergoing postmortem evaluation and the performance of a…”
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Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease by Ranganath, Prajnya, Matta, Divya, Bhavani, Gandham SriLakshmi, Wangnekar, Savita, Jain, Jamal Mohammed Nurul, Verma, Ishwar C., Kabra, Madhulika, Puri, Ratna Dua, Danda, Sumita, Gupta, Neerja, Girisha, Katta M., Sankar, Vaikom H., Patil, Siddaramappa J., Ramadevi, Akella Radha, Bhat, Meenakshi, Gowrishankar, Kalpana, Mandal, Kausik, Aggarwal, Shagun, Tamhankar, Parag Mohan, Tilak, Preetha, Phadke, Shubha R., Dalal, Ashwin

“…Acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the SMPD1…”
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Aberrations in folate metabolic pathway and altered susceptibility to autism by Mohammad, Naushad Shaik, Jain, Jamal Md Nurul, Chintakindi, Krishna Prasad, Singh, Ram Prakash, Naik, Usha, Akella, Radha Rama Devi

“…To investigate whether genetic polymorphisms are the underlying causes for aberrations in folate pathway that was reported in autistic children. A total of 138…”
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Protein structure prediction for novel mutations in Arylsulfatase-A gene by Divya, M, Jain, S Jamal, Phadke, SR, Kishore, Ratna, Kamate, Mahesh, Gupta, Neerja, Dalal, Ashwin

“…Background: Protein structure prediction is the prediction of three-dimensional structure of a protein from its amino acid sequence. It is useful in…”
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Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population by Uttarilli, Anusha, Jain, S Jamal, Dalal, Ashwin B, Ranganath, Prajnya, Phadke, Shubha R, Kumar, Girisha, Sankar, Null, Patil, SJ, Kabra, Madhulika, Danda, Sumita

“…Background: Mucopolysaccharidosis (MPS) are a group of rare inherited metabolic disorders which are caused due to the deficiency of a specific lysosomal enzyme…”
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