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Chloride sensing by WNK1 involves inhibition of autophosphorylation

Science signaling, 2014-05, Vol.7 (324), p.ra41

2014

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Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses

Molecular and cellular biochemistry, 2019-08, Vol.458 (1-2), p.27-37

2019

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Chiral Allene-Containing Phosphines in Asymmetric Catalysis

Journal of the American Chemical Society, 2011-11, Vol.133 (45), p.18066-18069

2011

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Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity

Indian journal of endocrinology and metabolism, 2017-07, Vol.21 (4), p.520-523

Akella, Radha Ramadevi

2017

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Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders

Pediatric neurology, 2020-05, Vol.106, p.43-49

2020

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Intracellular Chloride and Scaffold Protein Mo25 Cooperatively Regulate Transepithelial Ion Transport through WNK Signaling in the Malpighian Tubule

Journal of the American Society of Nephrology, 2018-05, Vol.29 (5), p.1449-1461

2018

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Identification and in Silico characterization of a novel CASK c.2546T>C (p.V849A) mutation in a male infant with pontocerebellar hypoplasia

Annals of the Indian Academy of Neurology, 2019-10, Vol.22 (4), p.523-524

2019

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Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

Journal of clinical immunology, 2021-05, Vol.41 (4), p.756-768

2021

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Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders

Psychiatric genetics, 2016-12, Vol.26 (6), p.281-286

2016

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Neuro-fuzzy model of homocysteine metabolism

Journal of genetics, 2017-12, Vol.96 (6), p.919-926

2017

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Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis

Brain & development (Tokyo. 1979), 2020-08, Vol.42 (7), p.534-538

2020

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In silico analysis of the structural and functional implications of SLC19A1 R27H polymorphism

Journal of genetics, 2019-09, Vol.98 (3), p.1-8, Article 85

2019

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Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases

Gene, 2019-07, Vol.704, p.97-102

2019

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Substrate and Docking Interactions in Serine/Threonine Protein Kinases

Chemical reviews, 2007-11, Vol.107 (11), p.5065-5081

2007

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Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism

Molecular biology reports, 2020-10, Vol.47 (10), p.7467-7475

2020

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Precisely Ordered Phosphorylation Reactions in the p38 Mitogen-activated Protein (MAP) Kinase Cascade

The Journal of biological chemistry, 2013-08, Vol.288 (32), p.23322-23330

2013

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FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis

Gene, 2017-09, Vol.627, p.222-225

2017

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Crystal Structures of MAP Kinase p38 Complexed to the Docking Sites on Its Nuclear Substrate MEF2A and Activator MKK3b

Molecular cell, 2002-06, Vol.9 (6), p.1241-1249

2002

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SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations

Gene, 2018-08, Vol.668, p.190-195

2018

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A rare case of fatty acyl‐CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype

Clinical genetics, 2021-05, Vol.99 (5), p.744-745

2021

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Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

JIMD reports, 2020-11, Vol.56 (1), p.82-94

2020

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Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India

Journal of perinatal medicine, 2010-01, Vol.38 (1), p.63-69

2010

Volltextzugriff (PDF)

Adaptive developmental plasticity in methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism limits its frequency in South Indians

Molecular biology reports, 2014-05, Vol.41 (5), p.3045-3050

2014

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Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India

Brain & development (Tokyo. 1979), 2014-06, Vol.36 (6), p.537-540

2014

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Chloride sensing by WNK1 involves inhibition of autophosphorylation

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses

Chiral Allene-Containing Phosphines in Asymmetric Catalysis

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders

Intracellular Chloride and Scaffold Protein Mo25 Cooperatively Regulate Transepithelial Ion Transport through WNK Signaling in the Malpighian Tubule

Identification and in Silico characterization of a novel CASK c.2546T>C (p.V849A) mutation in a male infant with pontocerebellar hypoplasia

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders

Neuro-fuzzy model of homocysteine metabolism

Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis

In silico analysis of the structural and functional implications of SLC19A1 R27H polymorphism

Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases

Substrate and Docking Interactions in Serine/Threonine Protein Kinases

Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism

Precisely Ordered Phosphorylation Reactions in the p38 Mitogen-activated Protein (MAP) Kinase Cascade

FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis

Crystal Structures of MAP Kinase p38 Complexed to the Docking Sites on Its Nuclear Substrate MEF2A and Activator MKK3b

SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations

A rare case of fatty acyl‐CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India

Adaptive developmental plasticity in methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism limits its frequency in South Indians

Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India

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