x-linked reticulate pigmentary: Topics by WorldWideScience.org

Hair Follicle Pigmentation

Human skin is a local source of corticotropin-releasing hormone (CRH) and expresses CRH and CRH receptors (CRH-R) at mRNA and protein levels. Epidermal melanocytes respond to CRH by induction...Full Text Available

2006-05-01

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.

Hair shaft melanin components (eu- or/and pheomelanin) are a long-lived record of precise interactions in the hair follicle pigmentary unit, e.g., between follicular melanocytes, keratinocytes,...Full Text Available

2005-01-01

RISK-XLR: A Microcomputer-Based Genetic Risk Program for X-Linked Recessive Traits

In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations...Full Text Available

1993-09-01

Very high voltage cables with synthesis insulation; Les cables tres haute tension a isolation synthetique

A computer program, RISK-XLR, which calculates genetic risk for carrier status of a Mendelian X-linked recessive condition has been written for the Macintosh series of microcomputers. The program,...Full Text Available

1987-11-04

The red-green visual pigment gene region in adrenoleukodystrophy.

A historical review on insulated cables for power transmission, is presented, beginning with impregnated paper insulation, oil filled cables and natural rubber cables. High density and chemically reticulated polyethylene were then used for high voltage and very high voltage cables; the advantages of polyethylene compared to impregnated paper cables are discussed, which led to research programs at EDF on various themes concerning the optimization of polyethylene cables: dielectric properties and reliability, thermomechanical behaviour, thermal ageing of materials, testing methods (acceptance dielectric test and long duration temperature test); utilization of low- and high-density and chemically reticulated polyethylene for 225 kV cables is discussed

1997-06-01

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Although recent data established that a specific very-long-chain fatty acyl-CoA synthetase is defective in X-linked adrenoleukodystrophy (ALD), the ALD gene is still unidentified. The ALD locus has...Full Text Available

1990-03-01

Ion conducting interpenetrated lattices for lithium generators; Reseaux interpenetres conducteurs ioniques pour generateurs au lithium

The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features...Full Text Available

Detection of Visual Deficits in Aging DBA/2J Mice by Two Behavioral Assays

Interpenetrated lattices (IPL) are combinations of reticulated polymers linked together by permanent crisscross. This structure is well-adapted to combined highly incompatible pairs of polymers. The in-situ sequential method has been applied successfully to the synthesis of ethylene poly-oxides / poly-siloxanes IPLs. The results concerning the preparation of such lattices and their behaviour as solid polymer electrolytes are presented in this paper. (J.S.) 24 refs.

1996-12-31

British Library Electronic Table of Contents (United Kingdom)

Purpose: The DBA/2J mice have been used as an animal model for human pigmentary glaucoma. However, these mice develop various degrees of disease symptoms at different ages, making it difficult to detect pathological changes of retinal degeneration at glaucoma onset. The purpose of this study is to develop a non-invasive assay to identify individual mice that develop visual deficits. Materials and Methods: We apply two behavioral tests, a swimming test of visual discrimination and a test of optomotor response, to identify glaucomatous DBA/2J mice. We then examine whether the elevation of intraocular pressure (IOP), the common risk factor for glaucoma, affects visual performances of the DBA/2J mice. We further compare the retinal ganglion cell death, one of the signature glaucoma symptoms, i...

2011-01-01

Pollen flora of Pakistan--LXVII: acanthaceae

Late-onset Stargardt-like macular dystrophy maps to chromosome 1p13

Pollen morphology of 30 species of the family Acanthaceae belonging to 11 genera has been investigated using light and scanning electron microscope. Acanthaceae is a eurypalynous family. Pollen are usually radially symmetrical, isopolar, sub-prolate to prolate rarely prolate-spheroidal or sub-oblate to oblate-spheroidal, generally tricolporate or heterocolporate rarely colpate or porate. Exine ornamentation varies from medium to coarse reticulate, or often lopho-reticulate with luminae perforated to baculate or scabrate. On the basis of apertural type, exine ornamentation and colpal membrane eight distinct pollen types have been recognized viz., Pollen type-I: Barleria cristata-type, Pollen type-II: Blepharis ciliaris-type, Pollen type-III: Hygrophila polysperma - type, Pollen type-IV: Justicia adhatoda-type, Pollen type-V:Lepidagathis incurva-type, Pollen type- VI: Peristrophe paniculata-type, Pollen type-VII: Ruellia patula-type and Pollen ...

2010-12-01

Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

Stargardt`s disease (MIM 248200), originally described in 1909, is an autosomal recessive condition of childhood, characterized by a sudden and bilateral loss of central vision. Typically, it has an early onset (7 to 12 years), a rapidly progressive course and a poor final outcome. The central area of the retina (macula) displays pigmentary changes in a ring form with depigmentation and atrophy of the retinal pigmentary epithelium (RPE). Perimacular yellowish spots, termed fundus flavimaculatus, are observed in a high percentage of patients. We have recently reported the genetic mapping of Stargardt`s disease to chromosome 1p13. On the other hand, considering that fundus flavimaculatus (MIM 230100) is another form of fleck fundus disease, with a Stargardt-like retinal aspect but with a late-onset and a more progressive course, we decided to test the hypothesis of allelism between typical Stargardt`s disease and late-onset autosomal recessive ...

1994-09-01

Disruption of the ATP-binding Cassette B7 (ABTM-1/ABCB7) Induces Oxidative Stress and Premature Cell Death in Caenorhabditis elegans*

Background/AimsFabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence...Full Text Available

2010-12-01

Comparative analysis of the ATRX promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular function

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. XLSA/A is caused by mutations in the ABCB7 gene, which encodes...Full Text Available

2011-06-17

Polyether matrices for lithium generators; Matrices polyethers pour generateurs au lithium

BackgroundATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked...Full Text Available

Extracellular matrix of plant callus tissue visualized by ESEM and SEM

The use of solvating polymers of polyether type is an interesting solution for the manufacturing of high capacity lithium batteries with lithium metal anodes and which can operate at T > 50 deg. C. These operating conditions are perfectly compatible with electric-powered vehicle and stationary battery applications. In order to improve the ionic conductivity of polymer electrolytes, new aprotic and amorphous polyether lattices have been synthesized having a good conductivity but also good thermal, mechanical and electrochemical stabilities. Two type of 3-D polyether lattices obtained by reticulation of linear pre-polymers have been selected as host polymers: unsaturated poly-condensate and unsaturated co-polyethers. (J.S.) 18 refs.

1996-12-31

British Library Electronic Table of Contents (United Kingdom)

Actinidia deliciosa endosperm-derived callus culture is stable over a long period of culture. This system was used to investigate the ultrastructure of extracellular matrix occurring in morphogenic tissue. Specimens were prepared by different biological techniques (chemical fixation, liquid nitrogen fixation, glycerol substitution, critical-point drying, lyophilization) and observed by scanning electron microscopy (SEM). Fresh and wet samples were analyzed with the use of environmental scanning electron microscopy (ESEM). Extracellular matrix was observed on the surface of cell clusters as a membranous layer or reticulated network, shrunken or wrinkled, depending on the procedure. Generally, shrunken membranous layers with a globular appearance and fibrils were noted after critical-point d...

2010-01-01

Development of rechargeable monopolar and bipolar zinc/air batteries

Mary Lyon and the hypothesis of random X chromosome inactivation

For the development of a rechargeable zinc/air battery, La[sub 0.6]Ca[sub 0.4]CoO[sub 3]-catalyzed (perovskite) bifunctional oxygen electrodes and pasted zinc electrodes were prepared and tested in monopolar zinc/air cells. In addition, a bipolar Zn/air stack was tested using reticulated copper foam as substrate for the zinc deposit. The cells were cycled in moderately alkaline ZnO-saturated electrolyte with KF as an electrolyte additive. The maximum power as well as the cycle life of the cells was investigated. The differences in porosity of the zinc electrode before and after the long-term test were analyzed using mercury porosimetry. (author) 8 figs., 13 refs.

1995-01-01

British Library Electronic Table of Contents (United Kingdom)

The 50th anniversary of Mary Lyon?s 1961 Nature paper, proposing random inactivation in early embryonic life of one of the two X chromosomes in the cells of mammalian females, provides an opportunity to remember and celebrate the work of those involved. While the hypothesis was initially put forward by Lyon based on findings in the mouse, it was founded on earlier studies, notably the work of Susumu Ohno; it was also suggested independently by Beutler and colleagues using experimental evidence from a human X-linked disorder, glucose-6-phosphate dehydrogenase deficiency, and has proved to be of as great importance for human and medical genetics as it has for general mammalian genetics. Alongside the hypothesis itself, previous cytological studies of mouse and human chromosomes, and the obse...

2011-01-01

Generation of ozone by pulsed corona discharge over water surface in hybrid gas-liquid electrical discharge reactor

Experimental investigation of premixed combustion within highly porous media

Ozone formation by a pulse positive corona discharge generated in the gas phase between a planar high voltage electrode made from reticulated vitreous carbon and a water surface with an immersed ground stainless steel plate electrode was investigated under various operating conditions. The effects of gas flow rate (0.5-3 litre min"-"1), discharge gap spacing (2.5-10 mm), applied input power (2-45 W) and gas composition (oxygen containing argon or nitrogen) on ozone production were determined. Ozone concentration increased with increasing power input and with increasing discharge gap. The production of ozone was significantly affected by the presence of water vapour formed through vaporization of water at the gas-liquid interface by the action of the gas phase discharge. The highest energy efficiency for ozone production was obtained using high voltage pulses of approximately 150 ns duration in Ar/O_2 mixtures with the maximum efficiency (energy yield) of 23 g kW ...

2005-02-07

1 2

Synthesis, crystal structures and luminescence properties of the Eu3+-doped yttrium oxotellurates(IV) Y2Te4O11 and Y2Te5O13

This paper reports on an experimental investigation of premixed methane/air combustion stabilized within a reticulated partially stabilized zirconia foam burner that was performed. A flame holder was used to extend the stability range to allow a stable flame to be maintained for a variety of flow rate and equivalence ratio combinations. The stability range, temperature distributions, and emissions were examined over a range of equivalence ratios and flow rates. The flame was found to be axisymmetric for all conditions in which the reactants were sufficiently well mixed and the flow distribution was sufficiently uniform. Burning speeds were measured that were well in excess of the laminar flame speed. The axial temperature distribution (measured around the burner annulus) in the postflame zone was found to be relatively insensitive to flow rate but dependent upon the burner core length. Very low concentrations of NO_x were found for fuel/air equivalence ratios of ...

1991-03-17

Evaluation of induced peanut mutant (RT-1010) for Pod yield, oil yield and resistant to aspergillus spp. invation and aflatoxin contamination

Y2Te4O11:Eu3+ and Y2Te5O13:Eu3+ single crystals in sub-millimeter scale were synthesized from the binary oxides (Y2O3, Eu2O3 and TeO2) using CsCl as fluxing agent. Crystallographic structures of the undoped yttrium oxotellurates(IV) Y2Te4O11 and Y2Te5O13 have been determined and refined from single-crystal X-ray diffraction data. In Y2Te4O11, a layered structure is present where the reticulated sheets consisting of edge-sharing [YO8]13- polyhedra are interconnected by the oxotellurate(IV) units, whereas in Y2Te5O13 only double chains of condensed yttrium-oxygen polyhedra with coordination numbers of 7 and 8 are left, now linked in two crystallographic directions by the oxotellurate(IV) entities. The Eu3+ luminescence spectra and the decay time from different energy levels of the doped compounds were investigated and all detected emission levels were identified. Luminescence properties of the Eu3+ cations have been interpreted in consideration of the now accessible ...

2008-10-01

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

An induced mutant, RT-10 (M6 generation) was re-irradiated with 300 Gy of gamma rays. In M2 generation a mutant plant was identified, which characterized with large pods, prominent longitudinal ribbon reticulation and slight constriction. The selected mutant, RT-1010 has the highest pod yield (.3.59 t/fed.vs.2.91 and 2.61 t/fed respectively) and harvest index ( 0.52 vs. 0.42 and 0.45 resp.), the best in fancy pods percentage (57.67 % vs. 38.33 % and 44.17 % resp.), TSMK grade (98.96 % vs. 83.03 % and 84.05 % resp.), the largest pod mass (253.37 g vs . 211.32 g and 222.19 g resp.) and the highest expected oil yield (1370 Kg/fed vs. 895.44 Kg and 868.17 Kg/fed. resp.). With regard to fatty acid compositions, both the selected mutant, RT-1010 and the parental mutant RT-10 have almost a similar high oleic fatty acid (C18:1) percentage (56.35 % and 55.103 % respectively), low linoleic fatty acid (C18:2) percentage (24.20 % and 24.138 % resp.), low palmetic fatty acid ...

2010-01-01

DEFF Research Database (Denmark)

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. ...

2010-01-01

ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome