Published in Nat Genet on October 01, 1992
Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. J Clin Invest (1998) 1.87
Individuality of the plasma sodium concentration. Am J Physiol Renal Physiol (2014) 1.49
Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct. J Clin Invest (1994) 1.45
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet (1993) 1.45
Molecular Architecture of G Protein-Coupled Receptors. Drug Dev Res (1996) 1.39
Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest (1993) 1.34
Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J Clin Invest (1995) 1.32
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest (1993) 1.31
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet (1994) 1.30
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet (1994) 1.30
Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. Am J Hum Genet (2001) 1.10
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J Clin Invest (1995) 1.09
Expression, stability, and membrane integration of truncation mutants of bovine rhodopsin. Proc Natl Acad Sci U S A (1997) 1.04
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Hum Genet (1994) 1.02
Sequence-specific "gene signatures" can be obtained by PCR with single specific primers at low stringency. Proc Natl Acad Sci U S A (1994) 1.01
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc Natl Acad Sci U S A (1994) 0.98
Lithium-induced nephrogenic diabetes insipidus: renal effects of amiloride. Clin J Am Soc Nephrol (2008) 0.97
Abnormalities in G protein-coupled signal transduction pathways in human disease. J Clin Invest (1993) 0.91
Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V). PLoS One (2013) 0.86
Amino acid residues critical for endoplasmic reticulum export and trafficking of platelet-activating factor receptor. J Biol Chem (2009) 0.85
Vasopressin and oxytocin in control of the cardiovascular system. Curr Neuropharmacol (2013) 0.84
Heritability of serum sodium concentration: evidence for sex- and ethnic-specific effects. Physiol Genomics (2011) 0.81
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study. Eur J Pediatr (2015) 0.80
Molecular developments in renal tubulopathies. Arch Dis Child (2000) 0.79
A complex selection signature at the human AVPR1B gene. BMC Evol Biol (2009) 0.77
Phylogenetic, ontogenetic, and pathological aspects of the urine-concentrating mechanism. Clin Exp Nephrol (2006) 0.75
A Rare Case of Congenital Diabetes Insipidus. Front Med (Lausanne) (2015) 0.75
AQP2 Plasma Membrane Diffusion Is Altered by the Degree of AQP2-S256 Phosphorylation. Int J Mol Sci (2016) 0.75
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proc Natl Acad Sci U S A (1994) 0.75
Urinary concentration: different ways to open and close the tap. Pediatr Nephrol (2013) 0.75
NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. J Am Soc Nephrol (2017) 0.75
A novel mutation in the renal V2 receptor gene in a boy with trisomy 21. Pediatr Nephrol (2004) 0.75
How Ligands Illuminate GPCR Molecular Pharmacology. Cell (2017) 0.75
DNA diagnosis of X-linked adrenoleukodystrophy. J Inherit Metab Dis (1995) 0.75
An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med (1987) 14.37
Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries. Proc Natl Acad Sci U S A (1985) 13.19
Characterization of the human factor VIII gene. Nature (1984) 5.37
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet (2001) 5.34
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet (1993) 4.93
Expression of active human factor VIII from recombinant DNA clones. Nature (1984) 4.36
Amyloid-associated proteins alpha 1-antichymotrypsin and apolipoprotein E promote assembly of Alzheimer beta-protein into filaments. Nature (1994) 4.28
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet (1993) 4.12
A randomised controlled trial comparing two schedules of antenatal visits: the antenatal care project. BMJ (1996) 3.50
Borrelia burgdorferi genes selectively expressed in the infected host. Proc Natl Acad Sci U S A (1995) 3.42
Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat Genet (1999) 3.30
Absolute pitch: an approach for identification of genetic and nongenetic components. Am J Hum Genet (1998) 3.29
The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics. Clin Pharmacol Ther (2012) 3.15
UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity. Pharmacogenomics J (2002) 2.77
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature (1985) 2.61
Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet (1994) 2.53
The burden of diabetes and impaired glucose tolerance in India using the WHO 1999 criteria: prevalence of diabetes in India study (PODIS). Diabetes Res Clin Pract (2004) 2.53
Neurophysiological correlates of age-related changes in human motor function. Neurology (2002) 2.52
Ten years' experience in zygomycosis at a tertiary care centre in India. J Infect (2001) 2.47
Methylation-specific PCR simplifies imprinting analysis. Nat Genet (1997) 2.33
Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature (1985) 2.30
Improving cancer radiotherapy with 2-deoxy-D-glucose: phase I/II clinical trials on human cerebral gliomas. Int J Radiat Oncol Biol Phys (1996) 2.15
hCTR1: a human gene for copper uptake identified by complementation in yeast. Proc Natl Acad Sci U S A (1997) 2.04
Shortcomings of Acridine orange staining for malarial parasite. Indian J Med Microbiol (2007) 2.03
Mode-locked thulium-bismuth codoped fiber laser using graphene saturable absorber in ring cavity. Appl Opt (2013) 2.00
Membrane elasticity in giant vesicles with fluid phase coexistence. Biophys J (2005) 1.97
Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin Pharmacol Ther (1999) 1.94
Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei. Am J Hum Genet (1991) 1.93
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology (2007) 1.90
The copper transporter CTR1 provides an essential function in mammalian embryonic development. Proc Natl Acad Sci U S A (2001) 1.90
A novel gene involved in zinc transport is deficient in the lethal milk mouse. Nat Genet (1997) 1.88
Randomized placebo-controlled trial of 2,3-dimercapto-1-propanesulfonate (DMPS) in therapy of chronic arsenicosis due to drinking arsenic-contaminated water. J Toxicol Clin Toxicol (2001) 1.88
A study on habits of tobacco use among medical and non-medical students of Kolkata. Lung India (2011) 1.86
MUC16 induced rapid G2/M transition via interactions with JAK2 for increased proliferation and anti-apoptosis in breast cancer cells. Oncogene (2011) 1.86
Rates of urinary tract injury from gynecologic surgery and the role of intraoperative cystoscopy. Obstet Gynecol (2006) 1.84
Modification by diacylglycerol of the structure and interaction of various phospholipid bilayer membranes. Biochemistry (1986) 1.80
Laparoscopic complications in markedly obese urologic patients (a multi-institutional review) Urology (1996) 1.75
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J Pediatr (2000) 1.74
Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr (1999) 1.74
Effect of Sahaj Yoga on neuro-cognitive functions in patients suffering from major depression. Indian J Physiol Pharmacol (2007) 1.72
Transverse-momentum and pseudorapidity distributions of charged hadrons in pp collisions at square root of s = 7 TeV. Phys Rev Lett (2010) 1.67
Shusruta of India, the pioneer in the treatment of urethral stricture. Surg Gynecol Obstet (1983) 1.64
PTEN methylation is associated with advanced stage and microsatellite instability in endometrial carcinoma. Int J Cancer (2001) 1.63
Hypophosphataemic rickets/osteomalacia: a descriptive analysis. Indian J Med Res (2010) 1.63
The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet (1999) 1.62
The mottled gene is the mouse homologue of the Menkes disease gene. Nat Genet (1994) 1.61
Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet (1994) 1.60
Day-case ureteroscopy: an observational study. BJU Int (2002) 1.60
Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. Science (1986) 1.60
Biology's new Rosetta stone. Nature (1997) 1.59
Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol (2006) 1.59
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet (2012) 1.58
Association between right ventricular function and perfusion abnormalities in hemodynamically stable patients with acute pulmonary embolism. Chest (1998) 1.58
Study of the mass and spin-parity of the Higgs boson candidate via its decays to Z boson pairs. Phys Rev Lett (2013) 1.56
Nitric oxide and cell adhesion molecules in essential hypertension: a case control study. J Hum Hypertens (2006) 1.56
Encystation and expression of cyst antigens by Giardia lamblia in vitro. Science (1987) 1.55
Borrelia burgdorferi gene expression in vivo and spirochete pathogenicity. Infect Immun (2000) 1.53
A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. Nucleic Acids Res (1987) 1.50
Economic cost analysis in cancer management and its relevance today. Indian J Cancer (2009) 1.49
MUC4 mucin-induced epithelial to mesenchymal transition: a novel mechanism for metastasis of human ovarian cancer cells. Oncogene (2010) 1.48
Seasonal variation of myocardial infarct size. Am J Cardiol (2001) 1.45
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet (1995) 1.44
Detection and analysis of intracoronary artery stent after PTCA using contrast-enhanced three-dimensional electron beam tomography. J Invasive Cardiol (2000) 1.44
Pregnancy outcomes, infant mortality, and arsenic in drinking water in West Bengal, India. Am J Epidemiol (2006) 1.43
Retinal detachment presumably associated with topiramate. Neurol India (2008) 1.41
Kerion formation due to Trichophyton rubrum. Br J Dermatol (1999) 1.41
Prevention of Borrelia burgdorferi transmission in guinea pigs by tick immunity. Am J Trop Med Hyg (1998) 1.40
Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum Mol Genet (1997) 1.40
Properties of an acid phosphatase from Legionella micdadei which blocks superoxide anion production by human neutrophils. Arch Biochem Biophys (1985) 1.40
Life-threatening necrotizing fasciitis of the neck: an unusual consequence of a sore throat. Ann R Coll Surg Engl (2004) 1.40
Regulation of expression and chromosomal subunit conformation of avian retrovirus genomes. Cell (1978) 1.40
The burden of diabetes and impaired fasting glucose in India using the ADA 1997 criteria: prevalence of diabetes in India study (PODIS). Diabetes Res Clin Pract (2004) 1.39
Pyomyositis: a diagnostic problem. J Indian Med Assoc (2007) 1.39
Decreasing epidural failure. Anaesthesia (2004) 1.39
The circadian pattern of ischaemic heart disease events in Indian population. J Assoc Physicians India (1998) 1.39
Duplication of the male urethra. J Urol (1977) 1.38
Apophysomyces elegans: an emerging zygomycete in India. J Clin Microbiol (2003) 1.38
Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology (2003) 1.37
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum Mol Genet (1999) 1.36
Organization of shared and unshared sequences in the genomes of chicken endogenous and sarcoma viruses. Cell (1977) 1.36
Unicompartmental knee arthroplasty. 2- to 12-year results in a community hospital. J Bone Joint Surg Br (2004) 1.31
Osteopontin: an effector and an effect of tumor metastasis. Curr Mol Med (2010) 1.29
Chemistry of potent anti-cancer compounds, amphidinolides. Curr Med Chem Anticancer Agents (2001) 1.28
Malignant pheochromocytoma of the bladder. J Urol (1980) 1.28
Patient preferences for partner notification. Sex Transm Infect (2006) 1.26
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res (1991) 1.26
Hepatic damage caused by chronic arsenic toxicity in experimental animals. J Toxicol Clin Toxicol (2000) 1.25
Bacterial translocation in cirrhotic rats stimulates eNOS-derived NO production and impairs mesenteric vascular contractility. J Clin Invest (1999) 1.24
A role of the Drosophila homeless gene in repression of Stellate in male meiosis. Chromosoma (2001) 1.24
MicroRNAs 10a and 10b are potent inducers of neuroblastoma cell differentiation through targeting of nuclear receptor corepressor 2. Cell Death Differ (2011) 1.24
Oxidant, mitochondria and calcium: an overview. Cell Signal (1999) 1.24
Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe. Lancet (1985) 1.23
Measurement of the electron charge asymmetry in inclusive W production in pp collisions at sqrt[s]=7 TeV. Phys Rev Lett (2012) 1.23
Sarcoma-like mural nodules in ovarian mucinous cystadenomas--a report of two cases. Indian J Med Sci (2005) 1.23
Characterization of Leishmania donovani acid phosphatases. J Biol Chem (1985) 1.23
Spinal intramedullary cysticercosis. Neurosurgery (1997) 1.22
Loa loa in the anterior chamber of the eye: a case report. Indian J Med Microbiol (2005) 1.22