Search results for "Molecular sequence"
showing 10 items of 1972 documents
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
2002
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.
Complete genome sequence of the strain Defluviitoga tunisiensis L3, isolated from a thermophilic, production-scale biogas plant.
2015
An anaerobic, thermophilic bacterium belonging to the phylum Thermotogae was isolated from a rural, thermophilic biogas plant (54 degrees C) producing methane-rich biogas from maize silage, barley, cattle and pig manure. Here we report the first complete genome sequence of the Defluviitoga tunisiensis strain L3, an isolate from the family Thermotogaceae. The strain L3 encodes several genes predicted to be involved in utilization of a large diversity of complex carbohydrates including cellobiose and xylan for the production of acetate, hydrogen (H-2) and carbon dioxide (CO2). The genome sequence of D. tunisiensis L3 provides the basis for biotechnological exploitation of genetic determinants…
Dissemination of a Carbapenem-Resistant Acinetobacter baumannii Strain Belonging to International Clone II/Sequence Type 2 and Harboring a Novel AbaR…
2013
ABSTRACT An outbreak of hospital-acquired Acinetobacter baumannii infections, caused by a bla OXA-23 -positive carbapenem-resistant strain belonging to international clone II/ST2, was detected in Latvia. The strain was partially equipped with the armA gene and the intI1-aacA4-catB8-aadA1-qacE Δ 1 class 1 integron. In addition, the strain carried AbaR25, a novel AbaR4-like resistance island of ∼46,500 bp containing structures similar to the previously described AbaR22 and Tn 6167 islands. AbaR25 was characterized by the occurrence of a second copy of Tn 6022a interrupted by Tn 2006 carrying the bla OXA-23 gene.
Binding of basic amphipathic peptides to neutral phospholipid membranes: a thermodynamic study applied to dansyl-labeled melittin and substance P ana…
1997
A thermodynamic approach is proposed to quantitatively analyze the binding isotherms of peptides to model membranes as a function of one adjustable parameter, the actual peptide charge in solution z(p)+. The main features of this approach are a theoretical expression for the partition coefficient calculated from the molar free energies of the peptide in the aqueous and lipid phases, an equation proposed by S. Stankowski [(1991) Biophysical Journal, Vol. 60, p. 341] to evaluate the activity coefficient of the peptide in the lipid phase, and the Debye-Huckel equation that quantifies the activity coefficient of the peptide in the aqueous phase. To assess the validity of this approach we have s…
Novel mutations of the MET proto-oncogene in papillary renal carcinomas.
1999
Hereditary papillary renal carcinoma (HPRC) is characterized by multiple, bilateral papillary renal carcinomas. Previously, we demonstrated missense mutations in the tyrosine kinase domain of the MET proto-oncogene in HPRC and a subset of sporadic papillary renal carcinomas. In this study, we screened a large panel of sporadic papillary renal carcinomas and various solid tumors for mutations in the MET proto-oncogene. Summarizing these and previous results, mutations of the MET proto-oncogene were detected in 17/129 sporadic papillary renal carcinomas but not in other solid tumors. We detected five novel missense mutations; three of five mutations were located in the ATP-binding region of t…
Coordination properties of adenosine-5'-monophosphate and related ligands towards Me2Sn(IV)2+ in aqueous solution.
2002
Abstract The coordination of Me 2 Sn(IV) 2+ to adenosine-5′-monophosphate (AMP) and the related compounds d -ribose-5-phosphate (R5P), d -glucose-1-phosphate (G1P) and d -glucose-6-phosphate (G6P) in aqueous solution was investigated by means of potentiometric titration, and 1 H-, 31 P-NMR and Mossbauer spectroscopic methods in the pH range 2–11 ( I =0.1 M NaClO 4 , 298 K). The complex of AMP and Me 2 Sn(IV) 2+ precipitated at low pH was characterised by elemental analysis, FT-IR and Mossbauer spectroscopic methods. From a comparison of the p K values obtained in the presence and absence of metal ion and the stability constants for the different systems, the coordination of {N} is excluded,…
Expression of the pea S -adenosylmethionine decarboxylase gene is involved in developmental and environmental responses
2002
A cDNA, able to complement the S-adenosyl-L-methionine decarboxylase (SAMdC; EC 4.1.1.50)-defective yeast strain Y342, has been isolated from pea (Pisum sativum L.). Expression of the SAMdC gene was characterised during pea development. Northern analysis showed a differential expression of the pea SAMdC gene in vegetative and reproductive tissues. The highest SAMdC mRNA levels were found in undifferentiated callus and tissues with high rates of cell division, and at the onset of fruit development. SAMdC expression was also induced in senescing ovaries, probably in relation to an accumulation of spermine during ovary senescence. Finally, the levels of SAMdC transcripts in leaves and shoots w…
TCTN3 Mutations Cause Mohr-Majewski Syndrome
2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…
The 9-O-acetylated disialosyl carbohydrate sequence of CDw60 is a marker on activated human B lymphocytes
1998
Gangliosides with a terminal 9-O-acetylated disialosyl group (CDw60 structures) show a restricted surface expression on human leukocytes. Hithereto, they have only been detected on subpopulations of human T lymphocytes. Using the defined CDw60 antibody UM4D4 and two new antibodies with preferential CDw60 activities, F6 and Z17, we demonstrate for the first time that CDw60 is an activation marker on human B lymphocytes. In vitro phorbol ester-stimulated human peripheral blood B lymphocytes as well as in vivo activated tonsillar B lymphocytes became CDw60 positive. CDw60 expression of these cells exceeds that of resting and activated T-lymphocytes.
Autoreactive CD4+ LKM-specific and anticlonotypic T-cell responses in LKM-1 antibody-positive autoimmune hepatitis
1996
Peripheral blood mononuclear cells (PBMC) of patients with autoimmune hepatitis (AIH) and controls were studied for their proliferative response to six overlapping synthetic peptides covering the 33-amino acid immunodominant region of cytochrome P450IID6, the main target antigen of LKM-1 antibody-positive type II AIH. PBMC from 8 of 8 type II AIH patients (100%), 6 of 12 LKM-1 antibody-negative type I AIH patients (50%), but only 4 of 31 patients with chronic hepatitis C (12.9%) reacted with a 23-amino acid LKM peptide and mainly with a shorter 18-amino acid LKM peptide. Follow-up showed that LKM-specific T-cell responses decreased after immunosuppression had started. Fine specificity, HLA …