Published in Mol Genet Metab on August 01, 2000
Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate. Biochim Biophys Acta (2008) 2.25
Systemic ceramide accumulation leads to severe and varied pathological consequences. EMBO Mol Med (2013) 0.94
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease. J Inherit Metab Dis (2002) 0.78
Accumulation of ordered ceramide-cholesterol domains in farber disease fibroblasts. JIMD Rep (2013) 0.78
Analyses of temporal regulatory elements of the prosaposin gene in transgenic mice. Biochem J (2003) 0.77
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (1988) 6.51
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature (1993) 5.05
Isolation of a novel receptor cDNA establishes the existence of two PDGF receptor genes. Science (1989) 4.08
Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping. Cancer Res (1999) 3.06
Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet (1984) 2.87
Endotoxin and cytokines induce expression of leptin, the ob gene product, in hamsters. J Clin Invest (1996) 2.68
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet (1995) 2.62
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet (1992) 2.16
Disrupted signaling and inhibited regeneration in obese mice with fatty livers: implications for nonalcoholic fatty liver disease pathophysiology. Hepatology (2001) 2.14
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet (1997) 2.13
Derivation of human tumor cells in vitro without widespread genomic instability. Cancer Res (2001) 2.07
Antiproliferative activity of ecteinascidin 743 is dependent upon transcription-coupled nucleotide-excision repair. Nat Med (2001) 2.04
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet (2000) 1.98
Leptin deficiency enhances sensitivity to endotoxin-induced lethality. Am J Physiol (1999) 1.90
The manifesting carrier in Duchenne muscular dystrophy. Clin Genet (1974) 1.71
Tuberculosis of the prostate and urethra: A review. Indian J Urol (2008) 1.70
Effects of ENU dosage on mouse strains. Mamm Genome (2000) 1.69
Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients. Pediatr Res (1989) 1.67
Trial of oral miltefosine for visceral leishmaniasis. Lancet (1998) 1.58
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet (1997) 1.56
Lymphangioma circumscriptum of the vulva. J Indian Med Assoc (1991) 1.55
The classical swine fever epidemic 1997-1998 in The Netherlands: descriptive epidemiology. Prev Vet Med (1999) 1.54
Uteroglobin: physiological role in normal glomerular function uncovered by targeted disruption of the uteroglobin gene in mice. Am J Kidney Dis (1998) 1.48
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. Clin Genet (1990) 1.47
Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol (1994) 1.47
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet (1999) 1.47
Antenatal sonographic detection of Wolffian duct cyst. J Clin Ultrasound (1989) 1.46
Developmental regulation of creatine kinase gene expression by myogenic factors in embryonic mouse and chick skeletal muscle. Development (1991) 1.41
Novel anti-inflammatory peptides from the region of highest similarity between uteroglobin and lipocortin I. Nature (1988) 1.40
X-linked adrenoleukodystrophy presenting as neurologically pure familial spastic paraparesis. Neurology (1995) 1.39
Is exercise-induced myocardial injury self-abating? Med Sci Sports Exerc (2001) 1.38
Screening for carriers of cystic fibrosis among partners of people heterozygous for the disease. BMJ (1990) 1.38
Severe fibronectin-deposit renal glomerular disease in mice lacking uteroglobin. Science (1997) 1.37
Impact of hepatitis B immunization among the Nicobarese tribe--antibody titres & seroprotection five years after vaccination. Indian J Med Res (2014) 1.33
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat Genet (1997) 1.32
Human macrophage metalloelastase. Genomic organization, chromosomal location, gene linkage, and tissue-specific expression. J Biol Chem (1995) 1.30
Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. Am J Hum Genet (1993) 1.29
Reduced leptin levels in starvation increase susceptibility to endotoxic shock. Am J Pathol (2000) 1.25
Myocilin gene implicated in primary congenital glaucoma. Clin Genet (2005) 1.23
Impaired membrane traffic in defective ether lipid biosynthesis. Hum Mol Genet (2001) 1.22
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet (1995) 1.21
Operative management of penetrating wounds of the chest in civilian practice. Review of indications in 125 consecutive patients. J Thorac Cardiovasc Surg (1979) 1.21
Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Hum Genet (1989) 1.20
Abnormal heart rate characteristics before clinical diagnosis of necrotizing enterocolitis. J Perinatol (2013) 1.19
Uteroglobin: a novel cytokine? Cell Mol Life Sci (1999) 1.19
Sequence-specific antitumor activity of a phosphorothioate oligodeoxyribonucleotide targeted to human C-raf kinase supports an antisense mechanism of action in vivo. Proc Natl Acad Sci U S A (1996) 1.19
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. J Clin Invest (1995) 1.18
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet (1999) 1.15
Traumatic thoracobiliary (pleurobiliary and bronchobiliary) fistulas: clinical and review study. J Trauma (1978) 1.15
Primary chondrosarcoma of the breast: a case report. Indian J Cancer (2004) 1.14
Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol (1993) 1.13
A novel transglutaminase-mediated post-translational modification of phospholipase A2 dramatically increases its catalytic activity. J Biol Chem (1990) 1.12
Uteroglobin inhibits phospholipase A2 activity. Life Sci (1986) 1.12
Thyroid cancer: a study of 573 thyroid tumors and 161 autopsy cases observed over a thirty-year period. Cancer (1976) 1.12
Absence of human papillomavirus DNA in breast cancer as revealed by polymerase chain reaction. Breast Cancer Res Treat (1996) 1.10
Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat Med (2001) 1.10
Multianalyte profiling of serum cytokines for detection of pancreatic cancer. Cancer Biomark (2005) 1.10
[Bilateral pheochromocytoma associated with duodeno-jejunal GIST in patient with von Recklinghausen disease: report of a clinical case]. Chir Ital (2001) 1.10
Potential roles of osteopontin and alphaVbeta3 integrin in the development of coronary artery restenosis after angioplasty. Proc Natl Acad Sci U S A (1997) 1.10
Sensitivity of Swedish interactive threshold algorithm compared with standard full threshold algorithm in Humphrey visual field testing. Ophthalmology (2000) 1.09
The 1997-1998 epidemic of classical swine fever in the Netherlands. Vet Microbiol (2000) 1.08
Low cerebrospinal fluid insulin levels in obese humans. Diabetologia (2006) 1.08
Suppression of epididymal sperm antigenicity in the rabbit by uteroglobin and transglutaminase in vitro. Science (1983) 1.08
Penetrating stab wounds of the chest: experience with 200 consecutive cases. J Trauma (1976) 1.08
Targeted inhibition of osteopontin expression in the mammary gland causes abnormal morphogenesis and lactation deficiency. J Biol Chem (2000) 1.08
Biochemical abnormalities in rhizomelic chondrodysplasia punctata. J Pediatr (1988) 1.08
Uniparental origin of sex chromosome polysomies. Hum Hered (1992) 1.07
Heart C-protein is transiently expressed during skeletal muscle development in the embryo, but persists in cultured myogenic cells. Dev Biol (1985) 1.06
Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Hum Genet (1981) 1.06
A new inactivated tissue culture rabies vaccine for use in man. Evaluation of PCEC-vaccine by laboratory tests. J Biol Stand (1984) 1.05
Mucinous adenocarcinoma of the renal pelvis--a case report. Indian J Pathol Microbiol (1997) 1.05
Osteolytic lesion indicating Pseudomonas sternal osteomyelitis. Arch Surg (1976) 1.05
PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. Mol Cell Biol (1998) 1.05
Search for mediators of the lipogenic effects of tumor necrosis factor: potential role for interleukin 6. Cancer Res (1990) 1.05
Colloid carcinoma of the breast with concomitant metastasis and a tuberculous lesion in the axillary lymph nodes. A case report. Acta Cytol (1992) 1.04
Monocyte induction of IL-10 and down-regulation of IL-12 by iC3b deposited in ultraviolet-exposed human skin. J Immunol (1998) 1.02
A case of glycine-receptor antibody-associated encephalomyelitis with rigidity and myoclonus (PERM): clinical course, treatment and CSF findings. J Neurol (2011) 1.02
Uteroglobin is essential in preventing immunoglobulin A nephropathy in mice. Nat Med (1999) 1.01
Bacteriology of the human biliary tract and the duodenum. Arch Surg (1977) 1.01
Human Clara cell 10-kDa protein is the counterpart of rabbit uteroglobin. J Biol Chem (1993) 1.01
Primary malignant melanoma of cervix - a case report. Indian J Cancer (2006) 1.01
Human herpesvirus 6 infects cervical epithelial cells and transactivates human papillomavirus gene expression. J Virol (1994) 1.00
Inhibition of phagocyte chemotaxis by uteroglobin, an inhibitor of blastocyst rejection. Biochem Pharmacol (1988) 1.00
Aberrant promoter methylation and inactivation of PTEN gene in cervical carcinoma from Indian population. J Cancer Res Clin Oncol (2011) 1.00
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J Med Genet (1990) 0.99
Factors affecting outcome in pancreatic trauma. J Trauma (1984) 0.99
Giant cell tumour of soft tissue--a case report. Indian J Pathol Microbiol (2000) 0.99
Meiotic chromosome damage induced by LSD-25. Nature (1968) 0.99
The peroxisome deficient PEX2 Zellweger mouse: pathologic and biochemical correlates of lipid dysfunction. J Mol Neurosci (2001) 0.99
Heparin regulates endothelin production through endothelium-derived nitric oxide in human endothelial cells. J Clin Invest (1993) 0.99
Osteopontin: its transglutaminase-catalyzed posttranslational modifications and cross-linking to fibronectin. J Biochem (1994) 0.99
Interaction of osteopontin with fibronectin and other extracellular matrix molecules. Ann N Y Acad Sci (1995) 0.98
Cytoplasmic granularity of the renal medullary interstitial cells in experimental hypertension. J Lab Clin Med (1969) 0.98
Treatment of spontaneous bacterial empyema thoracis. J Thorac Cardiovasc Surg (1987) 0.98
An ergonomic evaluation of dexterity and tactility with increase in examination/surgical glove thickness. Ergonomics (1995) 0.98