Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

2016 ◽  
Vol 90 (6) ◽  
pp. 496-508 ◽  
Author(s):  
A. Uttarilli ◽  
P. Ranganath ◽  
D. Matta ◽  
J. Md Nurul Jain ◽  
K. Prasad ◽  
...  
Keyword(s):  
Type I ◽  
Type Ii ◽  
Pathogenic Variants ◽  
Indian Patients ◽  
Identification And Characterization

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

2020 ◽  
Vol 65 (11) ◽  
pp. 971-984
Author(s):  
Divya Pasumarthi ◽  
Neerja Gupta ◽  
Jayesh Sheth ◽  
S. Jamal Md Nurul Jain ◽  
Ikrormi Rungsung ◽  
...  
Keyword(s):  
Type Ii ◽  
Type Iii ◽  
Indian Patients ◽  
Identification And Characterization ◽  
Mucolipidosis Type

Angiografia RM a contrasto di fase delle fistole arterovenose durali intracraniche

1997 ◽  
Vol 10 (2_suppl) ◽  
pp. 137-139
Author(s):  
M. Cellerini ◽  
M. Mascalchi ◽  
G. Ferrito ◽  
S. Mangiafico ◽  
F. Scazzeri ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Phase Contrast ◽  
Mr Angiography ◽  
Type I ◽  
Type Ii ◽  
Mr Images ◽  
Feeding Vessels ◽  
Intracranial Dural Arteriovenous Fistulae ◽  
Identification And Characterization

Ten patients with native intracranial dural arteriovenous fistulae (DAVF) demonstrated by arteriography underwent MR imaging and phase contrast MR angiography before treatment. The DAVFs were of type I (n=2), IIa (n=l), II a+b (n? 3), and TV (n=4). Joint review of the arteriography, MR imaging and MR angiography hard copies was performed by two observers. MR imaging showed intracerebral hemorrhage in 2 patients and diffuse or focal white matter edema in 2. Focal venous ectasias in 4 patients with type TV DAVF and dilated cortical vessels in 6 patients were recognized on MR images. MR angiography enabled identification of the DAVF nidus in 2 patients, hypertrophic feeding vessels in 5 patients and cortical dilated veins in 8 patients. Steno-occlusive alterations of the dural venous sinuses in 6 patients were readily demonstrated on MR angiography. Moreover, in 3 patients with type II a+b DAVFs, reconstruction of image phase of MR angiography allowed identification of flow revers al in the dural sinuses near the DAVF. Phase contrast MR angiography is a useful complement to MR imaging for identification and characterization of intracranial DAVF.

scholarly journals Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 788
Author(s):  
Hava Peretz ◽  
Ayala Lagziel ◽  
Florian Bittner ◽  
Mustafa Kabha ◽  
Meirav Shtauber-Naamati ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Heterologous Protein ◽  
Heterologous Protein Expression ◽  
Type I ◽  
Type Ii ◽  
Amino Acid Residues ◽  
Cysteine Desulfurase ◽  
Cofactor Binding ◽  
Pathogenic Variants ◽  
Expression Studies

Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the years 1997 and 2013. Four and a branch of a fifth of these families were previously described. Here, we reported the demographic, clinical, molecular and biochemical characterizations of the remaining cases. Seven out of 20 affected individuals (35%) presented with xanthinuria-related symptoms of varied severity. Among the 10 distinct variants identified, six were novel: c.449G>T (p.(Cys150Phe)), c.1434G>A (p.(Trp478*)), c.1871C>G (p.(Ser624*)) and c.913del (p.(Leu305fs*1)) in the XDH gene and c.1046C>T (p.(Thr349Ileu)) and c.1771C>T (p.(Pro591Ser)) in the MOCOS gene. Heterologous protein expression studies revealed that the p.Cys150Phe variant within the Fe/S-I cluster-binding site impairs XDH biogenesis, the p.Thr349Ileu variant in the NifS-like domain of MOCOS affects protein stability and cysteine desulfurase activity, while the p.Pro591Ser and a previously described p.Arg776Cys variant in the C-terminal domain affect Molybdenum cofactor binding. Based on the results of haplotype analyses and historical genealogy findings, the potential dispersion of the identified variants is discussed. As far as we are aware, this is the largest cohort of xanthinuria cases described so far, substantially expanding the repertoire of pathogenic variants, characterizing structurally and functionally essential amino acid residues in the XDH and MOCOS proteins and addressing the population genetic aspects of classical xanthinuria.

Evaluation of an enzyme immunoassay kit for estrogen receptor measurement--report II.

1988 ◽  
Vol 34 (10) ◽  
pp. 2053-2057 ◽  
Author(s):  
S Raam ◽  
D M Vrabel
Keyword(s):  
Enzyme Immunoassay ◽  
Binding Sites ◽  
Solid Phase ◽  
Functional Characterization ◽  
Quantitative Agreement ◽  
Type I ◽  
Type Ii ◽  
Immunoreactive Protein ◽  
Estrogen Binding

Abstract We present evidence to show that monoclonal antibodies to estrogen receptors (ER) in solid phase recognize the secondary estrogen binding sites with moderate to low affinity for estradiol (E2). An excellent quantitative agreement was found in five cytosols between the ER values obtained by the enzyme immunoassay (ER-EIA) and the amount of secondary estrogen binding sites measured by the assay involving dextran-coated charcoal (Clin Chem 1986;32:1496). The immunoreactive protein recognized by the antibody-coated beads, when allowed to react with ER(+) cytosols, is shown to bind [3H]estradiol only when the ligand concentration exceeds 8 nmol/L. Further biochemical and functional characterization of the immunoreactive protein is required to establish similarities/dissimilarities between this protein, high-affinity Type I ER sites, and the secondary sites such as Type II sites.

Geochemical characterization of hydrocarbon source rocks of the Triassic-Jurassic time interval in the Mandawa basin, southern Tanzania: Implications for petroleum generation potential

2020 ◽  
Vol 123 (4) ◽  
pp. 587-596
Author(s):  
A. Emanuel ◽  
C.H. Kasanzu ◽  
M. Kagya
Keyword(s):  
Source Rocks ◽  
Geochemical Data ◽  
Time Interval ◽  
Type I ◽  
Hydrocarbon Generation ◽  
Type Ii ◽  
Geochemical Characterization ◽  
Type Iii ◽  
Petroleum Generation

Abstract Triassic to mid-Jurassic core samples of the Mandawa basin, southern Tanzania (western coast of the Indian Ocean), were geochemically analyzed in order to constrain source rock potentials and petroleum generation prospects of different stratigraphic formations within the coastal basin complex. The samples were collected from the Mihambia, Mbuo and Nondwa Formations in the basin. Geochemical characterization of source rocks intersected in exploration wells drilled between 503 to 4042 m below surface yielded highly variable organic matter contents (TOC) rated between fair and very good potential source rocks (0.5 to 8.7 wt%; mean ca. 2.3 wt%). Based on bulk geochemical data obtained in this study, the Mandawa source rocks are mainly Type I, Type II, Type III, mixed Types II/III and Type IV kerogens, with a predominance of Type II, Type III and mixed Type II/III. Based on pyrolysis data (Tmax 417 to 473oC; PI = 0.02 to 0.47; highly variable HI = 13 to 1 000 mg/gTOC; OI = 16 to 225 mg/g; and VR values of between 0.24 to 0.95% Ro) we suggest that the Triassic Mbuo Formation and possibly the mid-Jurassic Mihambia Formation have a higher potential for hydrocarbon generation than the Nondwa Formation as they are relatively thermally mature.

scholarly journals Characterization of two types of azedinha in the region of Sete Lagoas, Brazil

2013 ◽  
Vol 31 (2) ◽  
pp. 328-331 ◽  
Author(s):  
Ernani C da Silva ◽  
Lanamar de A Carlos ◽  
Ana Paula Araújo ◽  
Leila de CL Ferraz ◽  
Marinalva W Pedrosa ◽  
...  
Keyword(s):  
Transverse Diameter ◽  
Type I ◽  
Type Ii ◽  
Vegetable Crop ◽  
Rumex Acetosa ◽  
Crop Species ◽  
Minas Gerais State ◽  
Length Width ◽  
Longitudinal Diameter

Azedinha (Rumex acetosa) is a vegetable crop species consumed in natura in salads and pertains to the group of non-conventional vegetables. These rustic plants are often considered weeds plants. There exist two types of native azedinha in the Sete Lagoas region, Minas Gerais state, Brazil, that are usually grown in family gardens and here denominated Type I and Type II. In this study we characterized the morphologic, physic-chemical and chromatic characteristic of these two types of azedinha. The study was carried out in randomized complete blocks with four replications in dependences of the EPAMIG (Non-Conventional Vegetable Bank) in Prudente de Morais, Brazil. Plants were trained to the point of harvest, 90 days after the planting of seedlings, when they were harvested for analysis. We evaluated the characteristics on the leaves: weight, length, width, number of veins, width/length ratio, transverse and longitudinal diameter of the base of the petiole and longitudinal and transverse diameter ratio of the base of the petiole. We also evaluated the contents of macro and micronutrients and chemical characteristics of the plant. There are significant differences between the assessed characteristics between azedinha types I and II. We concluded that the plants probably belong to two different varieties.

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