107-11-9

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Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Joshua D Groman et al.

American journal of human genetics, 74(1), 176-179 (2003-12-20)

An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in approximately 10% of individuals in the general population. When found in trans with a severe CFTR mutation, 5T

Parathyroid hormone-related protein-(107-139) inhibits bone resorption in vivo.

J Cornish et al.

Endocrinology, 138(3), 1299-1304 (1997-03-01)

PTH-related protein-(107-139) [PTHrP-(107-139)] has been reported previously to be a potent inhibitor of osteoclast activity. However, this finding has not been reproduced in other in vitro models. We have now examined the effects of this peptide in an in vivo

Frequent EGFR mutations in noninvasive bronchioloalveolar carcinoma.

Shingo Matsumoto et al.

International journal of cancer, 118(10), 2498-2504 (2005-12-15)

Mutations of the epidermal growth factor receptor gene (EGFR) have been reported to be present in a considerable fraction of lung adenocarcinomas showing dramatic response to EGFR tyrosine kinase inhibitors. To clarify pathogenic significance of the mutations for the development

Chitotriosidase is a biomarker for the resistance to World Trade Center lung injury in New York City firefighters.

Soo Jung Cho et al.

Journal of clinical immunology, 33(6), 1134-1142 (2013-06-08)

World Trade Center (WTC) exposure caused airflow obstruction years after exposure. Chitinases and IgE are innate and humoral mediators of obstructive airway disease. We investigated if serum expression of chitinases and IgE early after WTC exposure predicts subsequent obstruction. With

Functional significance of the GAG trinucleotide-repeat polymorphism in the gene for the catalytic subunit of gamma-glutamylcysteine ligase.

Sailendra N Nichenametla et al.

Free radical biology & medicine, 45(5), 645-650 (2008-06-14)

Gamma-glutamylcysteine ligase (GCL) is the rate-limiting enzyme in glutathione (GSH) synthesis. A GAG-repeat polymorphism in the 5' UTR of the gene coding for the catalytic subunit of GCL (GCLC) has been associated with altered GSH levels in vitro. Thus, we

No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population.

Junko Uka et al.

Retina (Philadelphia, Pa.), 26(9), 985-987 (2006-12-08)

The aim of this study was to determine whether genetic polymorphism of complement factor H (CFH) is associated with age-related macular degeneration (AMD) in the Japanese population. Genomic DNA was examined in a cohort of 67 Japanese patients with AMD

cis-9, trans-11-Conjugated Linoleic Acid Exerts an Anti-inflammatory Effect in Bovine Mammary Epithelial Cells after Escherichia coli Stimulation through NF-κB Signaling Pathway.

Nana Ma et al.

Journal of agricultural and food chemistry, 67(1), 193-200 (2018-12-19)

The anti-inflammatory effects of cis-9, trans-11-conjugated linoleic acid ( cis-9, trans-11-CLA) in diverse cells have been demonstrated in recent studies. The present study was conducted to observe the anti-inflammatory effects and involved mechanisms of CLA in bovine mammary epithelial cells

Genetic analysis of alcohol intake in recombinant inbred and congenic strains derived from A/J and C57BL/6J progenitors.

Kathryn Gill et al.

Mammalian genome : official journal of the International Mammalian Genome Society, 16(5), 319-331 (2005-08-18)

The objective of the present study was to map quantitative trait loci (QTL) for alcohol intake using A x B/B x A recombinant inbred (RI) and AcB/BcA recombinant congenic (RC) strains of mice that were independently derived from the A/J

New environmentally friendly MSPD solid support based on golden mussel shell: characterization and application for extraction of organic contaminants from mussel tissue.

Caroline Rombaldi et al.

Analytical and bioanalytical chemistry, 407(16), 4805-4814 (2015-05-01)

The use of golden mussel shells as a solid support in vortex-assisted matrix solid-phase dispersion (MSPD) was evaluated for the first time for extraction of residues of 11 pesticides and nine pharmaceutical and personal care products from mussel tissue samples.

Biotransformation and disposition of hexachlorocyclopentadiene in fish.

A A Podowski et al.

Archives of environmental contamination and toxicology, 20(4), 488-496 (1991-05-01)

Fate of hexachlorocyclopentadiene (Hex) was studied in fresh-water fish using in vivo and in vitro systems. Hex injected intraperitoneally into goldfish is readily distributed, stored and metabolized (greater than 11 organosoluble and hydrophilic metabolites). The body radioactivity in tissues declines

Identification of two novel shear stress responsive elements in rat angiotensin I converting enzyme promoter.

Ayumi Aurea Miyakawa et al.

Physiological genomics, 17(2), 107-113 (2004-02-12)

Mechanical forces contribute to maintenance of cardiovascular homeostasis via the control of release and production of vasoactive substances. We demonstrated previously that shear stress decreases rat ACE activity and expression. Using a reporter gene approach and mutagenesis, we show now

The role of matrix metalloproteinases and neutrophil gelatinase-associated lipocalin in central and peripheral arterial aneurysms.

Raffaele Serra et al.

Surgery, 157(1), 155-162 (2014-12-03)

An association between arterial aneurysms and matrix metalloproteinases (MMPs) has been described previously. MMPs regulate extracellular structural proteins and tissue remodeling. Neutrophil gelatinase-associated lipocalin (NGAL) is involved in the regulation of MMP activity. The aim of this work was to

Azelnidipine, unique calcium channel blocker could prevent stress-induced cardiac dysfunction like α·β blocker.

Yuri Takano et al.

Journal of cardiology, 60(1), 18-22 (2012-03-23)

We have reported that α and β adrenergic blockers could protect against emotional stress-induced cardiac dysfunction. Azelnidipine is a unique calcium blocker which does not increase heart rate. The purpose of this study is to evaluate the effect of azelnidipine

Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

Y Shiloh et al.

American journal of human genetics, 47(1), 20-27 (1990-07-01)

X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness. The ADFN mutation probably affects the migration of neural crest-derived precursors of the melanocytes. As a first step toward identifying

Quantitative trait loci for femoral and lumbar vertebral bone mineral density in C57BL/6J and C3H/HeJ inbred strains of mice.

W G Beamer et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 16(7), 1195-1206 (2001-07-14)

Significant differences in vertebral (9%) and femoral (50%) adult bone mineral density (BMD) between the C57BL/6J (B6) and C3H/HeJ (C3H) inbred strains of mice have been subjected to genetic analyses for quantitative trait loci (QTL). Nine hundred eighty-six B6C3F2 females

The Solution Structure and Dynamics of Full-length Human Cerebral Dopamine Neurotrophic Factor and Its Neuroprotective Role against α-Synuclein Oligomers.

Cristiane Latge et al.

The Journal of biological chemistry, 290(33), 20527-20540 (2015-07-08)

Cerebral dopamine neurotrophic factor (CDNF) is a promising therapeutic agent for Parkinson disease. As such, there has been great interest in studying its mode of action, which remains unknown. The three-dimensional crystal structure of the N terminus (residues 9-107) of

Spontaneous antibodies against Engrailed-2 (EN2) protein in patients with prostate cancer.

N E Annels et al.

Clinical and experimental immunology, 177(2), 428-438 (2014-03-25)

We reported the expression of the homeodomain-containing transcription factor Engrailed-2 (EN2) in prostate cancer and showed that the presence of EN2 protein in the urine was highly predictive of prostate cancer. This study aimed to determine whether patients with prostate

Hepatocyte growth factor receptor, matrix metalloproteinase-11, tissue inhibitor of metalloproteinase-1, and fibronectin are up-regulated in papillary thyroid carcinoma: a cDNA and tissue microarray study.

Veli-Matti Wasenius et al.

Clinical cancer research : an official journal of the American Association for Cancer Research, 9(1), 68-75 (2003-01-23)

To screen and validate the global gene expression in papillary thyroid carcinoma (PTC) using cDNA expression arrays and immunohistochemistry on tumor tissue microarrays in an attempt to find genes that may be of importance in the molecular pathogenesis and malignant

Mutations in the CHD7 gene: the experience of a commercial laboratory.

Cynthia F Bartels et al.

Genetic testing and molecular biomarkers, 14(6), 881-891 (2010-12-17)

CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7. Molecular diagnostic testing for CHD7 mutation has been available in a clinical setting since 2005. We report here the

Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey.

Takumi Nakamura et al.

Psychiatry and clinical neurosciences, 70(8), 342-350 (2016-04-24)

Though genetic factors play a major role in the pathophysiology of psychoses including bipolar disorder (BD) and schizophrenia, lack of well-established causative genetic mutations hampers their neurobiological studies. Darier's disease, an autosomal dominant skin disorder caused by mutations of ATP2A2

Aerosol-derived airway morphometry (ADAM) in patients with lung emphysema diagnosed by computed tomography--reproducibility, diagnostic information and modelling.

B Lehnigk et al.

European journal of medical research, 12(2), 74-83 (2007-03-21)

Gravitational deposition of monodisperse particles can be used to determine effective airway diameter (EAD). The aim of our study was to assess intraindividual variability of EAD in healthy subjects and patients with emphysema, to compare EAD in patients with different

Monitoring paracetamol metabolism after single and repeated administration in pediatric patients with neoplastic diseases.

S Koling et al.

International journal of clinical pharmacology and therapeutics, 45(9), 496-503 (2007-10-03)

Paracetamol (PCM) is frequently used in pediatric patients with neoplastic disease. It is metabolized mainly by conjugation, but at therapeutic concentrations, a small fraction of the drug undergoes oxidative metabolism via cytochrome P450 forming the hepatotoxic intermediate N-acetyl-p-benzo-quinone-imine (NAPQI) which

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

Sandra S Strautnieks et al.

Gastroenterology, 134(4), 1203-1214 (2008-04-09)

Patients with severe bile salt export pump (BSEP) deficiency present as infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy. Patients with

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

Anna Sułek-Piatkowska et al.

Neurologia i neurochirurgia polska, 42(3), 203-209 (2008-07-25)

The aim of this study was to perform DNA analysis in patients with clinical diagnosis of Huntington's disease (HD) after molecular exclusion of HD and further molecular examinations for other neurodegenerative diseases such as Huntington's disease-like 2 (HDL-2; gene JPH3)

The crystal structure of the C-terminal truncated apolipoprotein A-I sheds new light on amyloid formation by the N-terminal fragment.

Olga Gursky et al.

Biochemistry, 51(1), 10-18 (2012-01-11)

Apolipoprotein A-I (apoA-I) is the main protein of plasma high-density lipoproteins (HDL, or good cholesterol) that remove excess cell cholesterol and protect against atherosclerosis. In hereditary amyloidosis, mutations in apoA-I promote its proteolysis and the deposition of the 9-11 kDa

OTX1 and OTX2 expression correlates with the clinicopathologic classification of medulloblastomas.

Talitha de Haas et al.

Journal of neuropathology and experimental neurology, 65(2), 176-186 (2006-02-08)

OTX1 and OTX2 are transcription factors with an essential role in the development of the cerebellum. We previously described a high OTX2 expression in medulloblastoma. Here, we analyzed amplification and mRNA expression of OTX1 and OTX2 in a series of

Efficacy and safety of bexarotene combined with psoralen-ultraviolet A (PUVA) compared with PUVA treatment alone in stage IB-IIA mycosis fungoides: final results from the EORTC Cutaneous Lymphoma Task Force phase III randomized clinical trial (NCT00056056).

S Whittaker et al.

The British journal of dermatology, 167(3), 678-687 (2012-08-29)

Psoralen plus ultraviolet A (PUVA) is the standard treatment for early stages of mycosis fungoides. There have been no adequate randomized controlled trials with sufficient power comparing this modality with other therapies. To assess disease response and to compare the

Complete genome sequence of avian paramyxovirus type 7 (strain Tennessee) and comparison with other paramyxoviruses.

Sa Xiao et al.

Virus research, 145(1), 80-91 (2009-06-23)

The complete genome sequence of avian paramyxovirus serotype 7 (APMV-7) prototype strain dove/Tennessee/4/75 was determined. The genome size is 15,480 nucleotides (nt) long and follows the "rule of six". The genome contains six non-overlapping genes in the order of 3'-N-P/V/W-M-F-HN-L-5'.

Removal of phosphorus, fluoride and metals from a gypsum mining leachate using steel slag filters.

Dominique Claveau-Mallet et al.

Water research, 47(4), 1512-1520 (2013-01-12)

The objective of this work was to evaluate the capacity of steel slag filters to treat a gypsum mining leachate containing 11-107 mg P/L ortho-phosphates, 9-37 mg/L fluoride, 0.24-0.83 mg/L manganese, 0.20-3.3 zinc and 1.7-8.2 mg/L aluminum. Column tests fed

Femtosecond laser cutting of endothelial grafts: comparison of endothelial and epithelial applanation.

Aurélien Bernard et al.

Cornea, 34(2), 209-217 (2014-11-21)

Stromal surface quality of endothelial lamellae cut for endothelial keratoplasty with a femtosecond laser (FSL) with epithelial applanation remains disappointing. Applanation of the endothelial side of the cornea, mounted inverted on an artificial chamber, has therefore been proposed to improve

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