Search Results - "Jamal, Md Nurul Jain"

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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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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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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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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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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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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