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Brown Oculocutaneous Albinism

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Most cited protocols related to «Brown Oculocutaneous Albinism»

1
Validating Online Time-Line Follow-Back Assessment
As technology advances and interactive Internet-based assessments become more practical and common, it is important to validate this widespread measure for use in these domains. The benefits of collecting data using the Internet include ease and expanded time of survey access and recruitment, standardization of questions, reduced cost and time, and fewer data entry errors (Moore, Soderquist, & Werch, 2005 (link); Riva, Terruzi, & Anolli, 2003 (link); Strecher, 2007 ). Electronic methods may further provide a greater sense of anonymity, thereby reducing underreporting of undesirable or stigmatizing behaviors such as underage and illicit substance use (Farvolden, Cunningham, & Selby, 2009 ; Turner et al., 1998 (link)).
Existing studies have found relatively minor or no differences between data collected electronically versus more traditional paper-and-pencil and interview methods (Khadjesari et al., 2009 (link); Kypri, Gallagher, & Cashell-Smith, 2004 (link); Miller et al., 2002 (link)). In general, alcohol use measures such as the Alcohol Use Identification Test (Saunders, Aasland, Babor, de la Fuente, & Grant, 1993 (link)) and the Rutgers Alcohol Problem Index (White & Labouvie, 1989 (link)) appear to collect comparable data in both online and paper-and-pencil formats. To date, little research has evaluated standard TLFB interviews with self-administered Internet-based TLFB assessments. Hoeppner, Stout, Jackson, and Barnett (2010) (link) compared an online 7-day TLFB assessment to standard 30-day in-person TLFB interviews and found more proximal reports of behavior within the 7-day TLFB may have been more accurate than retrospectively reported behavior collected during the in-person interview. However, it is unclear if standard TLFB formats (e.g., retrospective reports of past 90 days) compare to traditional and online formats. Concerns exist when online translations of traditional paper-and-pencil or interview assessments are utilized in research without empirically testing the validity of the measure in the new format (Buchanan et al., 2005 (link); Del Boca & Darkes, 2003 (link); Gosling, Vazire, Srivastava, & John, 2004 (link)). Thus, the current study employed a randomized within-subjects design to evaluate utility of an online TLFB assessment. We compared participants’ reported past 90-day drinking and marijuana use on a standard in-person TLFB interview to a similar online-delivered version. It was hypothesized that participants would report similar amounts of drinking and marijuana use during both administrations of the TLFB. However, as a greater degree of anonymity from online questionnaires may help assist in greater reports of illegal and stigmatized behaviors (Turner et al., 1998 (link)), we hypothesized that those participants who reported less comfort during the in-person TLFB would report higher levels of alcohol and marijuana use on the online TLFB.
Pedersen E.R., Grow J., Duncan S., Neighbors C, & Larimer M.E. (2012). Concurrent Validity of an Online Version of the Timeline Followback Assessment. Psychology of addictive behaviors : journal of the Society of Psychologists in Addictive Behaviors, 26(3), 672-677.
Publication 2012
Alcohol Problem Alcohols Brown Oculocutaneous Albinism Marijuana Use Medical Marijuana Substance Use
2
Neonatal Porcine Skin and Skin Simulants for Microneedle Penetration Assessment
Full thickness neonatal porcine skin can be considered a good model for human skin in terms of hair sparseness and physical properties (Meyer, 1996 (link)). It was obtained from stillborn piglets and excised <24.0 h after birth. Full thickness skin (≈0.5 mm) was then stored in aluminium foil at −20.0 °C until further use. Two sections of skin were placed together, with the dermal side contacting each other, such that the stratum corneum surface was exposed at either side, giving a total skin thickness of about 1 mm. This was then utilised for the OCT assessment of MN penetration.
As an alternative to neonatal porcine skin, Parafilm M® (PF) film and a needle testing polyurethane film were used as skin simulants. A sheet of Parafilm was folded to get an eight-layer film (≈1 mm thickness) and a poly(urethane) needle testing film (Deka®) was used as received (0.4 mm thickness). The skin/Parafilm® was then placed onto a sheet of expanded poly(ethylene) for support.
Two insertion methods were carried out: manual and Texture Analyser insertion. For manual insertion, different volunteers were recruited to apply the MN arrays following the same instructions as in the force measurement experiment. The Texture Analyser insertion was performed using a TA.XTPlus Texture Analyser (Stable Micro Systems, Surrey, UK) in compression mode. MN arrays were placed on the surface of the skin/artificial membrane and sticky tape (Office Depot, Boca Raton, USA) was carefully applied on the upper surface without applying force (Fig. 1D). The probe was lowered onto the skin/artificial membrane at a speed of 0.5 mm s−1 until the required force was exerted. Forces were held for 30 s and varied from 10 N to 50 N per array. Once the target force was reached, the probe was moved upwards at a speed of 0.5 mm s−1.
Larrañeta E., Moore J., Vicente-Pérez E.M., González-Vázquez P., Lutton R., Woolfson A.D, & Donnelly R.F. (2014). A proposed model membrane and test method for microneedle insertion studies. International Journal of Pharmaceutics, 472(1-2), 65-73.
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Publication 2014
Aluminum ARID1A protein, human Birth Brown Oculocutaneous Albinism Hair Homo sapiens Infant, Newborn Membranes, Artificial Needles Physical Processes Pigs Poly A Polyethylenes Polyurethanes Skin Skin, Artificial Tissue, Membrane Urethane Voluntary Workers
3
Immortalized Normal Human Bronchial Epithelial Cell Lines
HBEC3 (HBEC3KT), HBEC4 (HBEC4KT) and HBEC17 (HBEC17KT) immortalized normal human bronchial epithelial cell lines were established by introducing mouse Cdk4 and human TERT into normal human bronchial epithelial cells (6 (link)). HBECs were cultured with KSFM (Life Technologies Inc., Carlsbad, CA) media containing 50 µg/mL of Bovine Pituitary Extract (BPE) (Life Technologies Inc.) and 5 ng/mL of EGF (epidermal growth factor) (Life Technologies Inc.). Partially transformed HBECs (soft agar clones) were also cultured with RPMI-1640 (Life Technologies Inc.) media supplemented with 10% fetal bovine serum (R10). Lung cancer cell lines were established by our laboratory, and maintained in RPMI-1640 (Life Technologies Inc.) with 5% fetal bovine serum (21 (link), 22 (link)). All cell lines were DNA fingerprinted (PowerPlex 1.2 Kit, Promega, Madison, WI) and mycoplasma-free (e-Myco Kit, Boca Scientific, Boca Raton, FL).
Sato M., Larsen J.E., Lee W., Sun H., Shames D.S., Dalvi M.P., Ramirez R.D., Tang H., DiMaio J.M., Gao B., Xie Y., Wistuba I.I., Gazdar A.F., Shay J.W, & Minna J.D. (2013). Human lung epithelial cells progressed to malignancy through specific oncogenic manipulations. Molecular cancer research : MCR, 11(6), 638-650.
Publication 2013
Agar Bos taurus Bronchi Brown Oculocutaneous Albinism Cell Lines Clone Cells Epidermal growth factor Epithelial Cells Fetal Bovine Serum Homo sapiens Lung Cancer Mus Mycoplasma Promega TERT protein, human
4
HIV-1 Plasma Specimen Characterization
A total of 97 HIV-1 positive plasma specimens were purchased from Boca Biolistics, Inc. (Coconut Creek, FL) and used for the development of controls and calibrator (CAL), optimization of the LAg-Avidity EIA, and as a cross-sectional specimen set for testing. These bulk volume specimens (∼200 mL each) were thoroughly characterized with respect to HIV serology testing and HIV-1 Western blot assay.
Duong Y.T., Qiu M., De A.K., Jackson K., Dobbs T., Kim A.A., Nkengasong J.N, & Parekh B.S. (2012). Detection of Recent HIV-1 Infection Using a New Limiting-Antigen Avidity Assay: Potential for HIV-1 Incidence Estimates and Avidity Maturation Studies. PLoS ONE, 7(3), e33328.
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Publication 2012
Biolistics Brown Oculocutaneous Albinism Cocos nucifera Dietary Fiber HIV-1 HIV Seropositivity Plasma Western Blot
5
Engineered Muscle Tissue Myobundles
Myobundles were formed by modifying our previously published methods for engineered rodent muscle tissues (Hinds et al., 2011 (link); Juhas et al., 2014 (link)) (Figure 1—figure supplement 2). Expanded myogenic cells were dissociated in 0.025% trypsin-EDTA to a single cell suspension and encapsulated in a fibrinogen (Akron, Boca Raton, FL) and matrigel solution on laser cut Cerex frames (9.2 × 9.5 mm outer dimensions, 6.8 × 8.3 mm inner dimensions) within PDMS molds (cast from Teflon masters and pretreated with pluronic) at 15 × 106 cells/ml (7.5 × 105 cells per myobundle). Specifically, a cell solution (7.5 × 105 cells in 17.2 µl media per bundle + 2 µl of 50 unit/ml thrombin in 0.1% BSA in PBS [Sigma, St. Louis, MO]) and a gelling solution (11 µl media + 10 µl Matrigel + 10 µl of 20 mg/ml Fibrinogen in DMEM) were prepared in separate vials on ice for up to six myobundles per vial. Gelling solution was added to the cell solution and mixed thoroughly then each bundle was individual pipetted within the PDMS mold and onto the frame. The cell/hydrogel mixture was polymerized for 30 min at 37°C followed by incubation in growth media containing 1.5 mg/ml 6-aminocaproic acid (ACA, Sigma). Myobundles were kept in growth media during gel compaction (3–5 days) and then switched to low glucose DMEM with 2% horse serum (Hyclone, Logan, UT), 2 mg/ml ACA and 10 µg/ml insulin (Sigma). Frames were removed from molds at the time of switch to low serum medium and cultured dynamically in suspension for an additional 1–4 weeks. Starting from a 50 mg donor biopsy, typical cell expansion for 5 passages can allow generation of at least 1000 myobundles with a total mass of >5 g, representing a >100-fold amplification of muscle mass when going from native to engineered tissue system.
All drugs were purchased from Sigma. Clenbuterol hydrochloride, chloroquine phosphate, and cerivastatin sodium salt hydrate were prepared at 1000× stock solutions in PBS (control) and sterile-filtered for use. Lovastatin was prepared as a 10,000× stock solution in DMSO in which case DMSO was used as vehicle control. Drugs studies in myobundles or 2D cultures were initiated after 1 week of differentiation. Myobundles were replenished with fresh media and drug each day to maintain drug concentration.
Madden L., Juhas M., Kraus W.E., Truskey G.A, & Bursac N. (2015). Bioengineered human myobundles mimic clinical responses of skeletal muscle to drugs. eLife, 4, e04885.
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Publication 2015
(Z)-2-amino-5-chlorobenzophenonamidinohydrazone acetate 6-Aminocaproic Acid Biopsy Brown Oculocutaneous Albinism CD3EAP protein, human Cells cerivastatin chloroquine phosphate Clenbuterol Dietary Supplements Edetic Acid Equus caballus Fibrinogen Fungus, Filamentous Glucose Homo sapiens Hydrogels Insulin Lovastatin matrigel Muscle Tissue Myogenesis Pharmaceutical Preparations Pluronics Reading Frames Rodent Serum Sodium Chloride Sodium Hydroxide Sterility, Reproductive Sulfoxide, Dimethyl Teflon Thrombin Tissue Donors Tissue Engineering Trypsin

Most recents protocols related to «Brown Oculocutaneous Albinism»

1
Recombinant Fascin 1 Protein Expression
Not available on PMC !

Example 2

Recombinant human fascin 1 was expressed as a GST fusion protein in BL21 Escherichia coli. One liter of 2YT medium with ampicillin was inoculated overnight with 3 mL of BL21/DE3 culture transformed with pGEX4T-fascin 1 plasmid and grown at 37° C. until attenuance at 600 nm (D600) reached about 0.8. The culture was then transferred to 18° C. and induced by the addition of 0.1 mM isopropyl β-d-thiogalactoside (IPTG) for 12 h. Bacteria were harvested by centrifugation at 5,000 r.p.m. for 10 min. The pellets were suspended in 30 mL of PBS supplemented with 0.2 mM PMSF, 1 mM DTT, 1% (v/v) Triton X-100 and 1 mM EDTA. After sonication, the suspension was centrifuged at 15,000 r.p.m. for 30 min to remove the cell debris. The supernatant was then incubated for 2 h with 4 mL of glutathione beads (Sigma) at 4° C. After extensive washing with PBS, the beads were resuspended in 10 mL of thrombin cleavage buffer (20 mM Tris-HCl pH 8.0, 150 mM NaCl, 2 mM CaCl2, 1 mM DTT). Fascin was released from the beads by incubation overnight with 40-100 U of thrombin at 4° C. After centrifugation, 0.2 mM PMSF was added to the supernatant to inactivate the remnant thrombin activity. The fascin protein was further concentrated with a Centricon® (Boca Raton, FL) filter to about 50 mg/mL.

US11866440B2. Methods for inhibiting fascin (2024-01-09). NOVITA PHARMACEUTICALS, INC. [US], CORNELL UNIVERSITY [US]. Inventors: Xin-Yun Huang [US], Christy Young Shue [US].
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Patent 2024
Ampicillin Bacteria Brown Oculocutaneous Albinism Buffers Cells Centrifugation Cytokinesis D-600 Edetic Acid Escherichia coli fascin Glutathione Homo sapiens Isopropyl Thiogalactoside Pellets, Drug Plasmids Proteins Sodium Chloride Staphylococcal Protein A Thrombin Triton X-100 Tromethamine
2
Recombinant Human Fascin 1 Purification
Not available on PMC !

Example 2

Recombinant human fascin 1 was expressed as a GST fusion protein in BL21 Escherichia coli. One liter of 2YT medium with ampicillin was inoculated overnight with 3 mL of BL21/DE3 culture transformed with pGEX4T-fascin 1 plasmid and grown at 37° C. until attenuance at 600 nm (D600) reached about 0.8. The culture was then transferred to 18° C. and induced by the addition of 0.1 mM isopropyl β-d-thiogalactoside (IPTG) for 12 h. Bacteria were harvested by centrifugation at 5,000 r.p.m. for 10 min. The pellets were suspended in 30 mL of PBS supplemented with 0.2 mM PMSF, 1 mM DTT, 1% (v/v) Triton X-100 and 1 mM EDTA. After sonication, the suspension was centrifuged at 15,000 r.p.m. for 30 min to remove the cell debris. The supernatant was then incubated for 2 h with 4 mL of glutathione beads (Sigma) at 4° C. After extensive washing with PBS, the beads were resuspended in 10 mL of thrombin cleavage buffer (20 mM Tris-HCl pH 8.0, 150 mM NaCl, 2 mM CaCl2), 1 mM DTT). Fascin was released from the beads by incubation overnight with 40-100 U of thrombin at 4° C. After centrifugation, 0.2 mM PMSF was added to the supernatant to inactivate the remnant thrombin activity. The fascin protein was further concentrated with a Centricon® (Boca Raton, FL) filter to about 50 mg/mL.

US11858929B2. Compounds and methods for inhibiting fascin (2024-01-02). NOVITA PHARMACEUTICALS, INC. [US], CORNELL UNIVERSITY [US]. Inventors: Xin-Yun Huang [US], Christy Young Shue [US].
Full text: Click here
Patent 2024
Ampicillin Bacteria Brown Oculocutaneous Albinism Buffers Cells Centrifugation Cytokinesis D-600 Edetic Acid Escherichia coli fascin Glutathione Homo sapiens Isopropyl Thiogalactoside Pellets, Drug Plasmids Proteins Sodium Chloride Staphylococcal Protein A Thrombin Triton X-100 Tromethamine
3
Autologous Platelet-Rich Fibrin Preparation
PRF was prepared according to the L-PRF™ protocol (Intra-Lock, Boca Raton, FL, USA). Briefly, 9 mL autologous venous blood was collected into plastic tubes with a clot activator (Intra-Spin Red Blood Tube, Intra-Lock, Boca Raton, FL, USA). One tube was used as control (without drug), while an increasing amount of different drugs was added to the other tubes (see next section). The tubes were then centrifuged on a fixed-angle centrifuge machine (IntraSpin™, Intra-Lock, Boca Raton, FL, USA) at 2700 rpm (710 g RCF) for 12 min. After centrifugation the red blood cells (RBC) were removed and the PRF membrane was used in the following experiments.
Bennardo F., Gallelli L., Palleria C., Colosimo M., Fortunato L., De Sarro G, & Giudice A. (2023). Can platelet-rich fibrin act as a natural carrier for antibiotics delivery? A proof-of-concept study for oral surgical procedures. BMC Oral Health, 23, 134.
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Publication 2023
BLOOD Brown Oculocutaneous Albinism Centrifugation Clotrimazole Erythrocytes Pharmaceutical Preparations Tissue, Membrane Veins
4
Membrane Electrode Assembly Fabrication
For MEA, 0.018 g each of the Co–N–C catalyst and Pt/C was added to 0.4 g DI water, 0.4 g methanol, and 0.09 g XB-7 (alkaline ionomer solution) (Dioxide Materials, Boca Raton, FL, USA) in sequence, shaking the vials for 24 h in an ultrasonic oscillator to uniformly disperse the catalyst in the slurry. We cut the carbon paper (N1S1007) into an appropriate area, placed it on the heating plate, and then spread the catalyst slurry uniformly on the carbon paper. The Pt/C catalyst slurry was prepared in the same way. The carbon papers containing Co–N–C and Pt/C and the X37-50RT (Dioxide Materials, Boca Raton, FL, USA) anion exchange membrane (AEM) were soaked in 0.1 M KOH for 24 h. After soaking, the residual KOH was cleaned with DI water. Finally, the carbon papers were sandwiched on both sides of the AEM and hot-pressed at 140 °C with a pressure force of 70 kgf cm−2 for 5 min to obtain the MEA.
Wang Y.Z., Hsieh T.H., Huang Y.C, & Ho K.S. (2023). 2,6-Diaminopyridine-Based Polyurea as an ORR Electrocatalyst of an Anion Exchange Membrane Fuel Cell. Polymers, 15(4), 915.
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Publication 2023
Anions Brown Oculocutaneous Albinism Carbon Methanol Pressure Tissue, Membrane Ultrasonics
5
Anthropometric Measurements Protocol
Participants were weighed to the nearest 0.1 kg on a digital scale (Health-O-Meter 2600 KL Wheelchair Scale, Sunbeam Products, Boca Raton, FL, USA). Height was recorded to the nearest 0.1 cm using a wall-mounted stadiometer (Holtain Limited, Croswell Crymych, United Kingdom). BMI was calculated from the measured height and weight using the formula kg/m2. Percent body fat was assessed using BodPod (Cosmed, Concord, CA, USA). Waist circumference was measured against the skin with a tape measure wrapped around the umbilicus to the nearest 0.5 cm (1/4 inch).
Rancourt D., Heeren F.A, & Cardel M. (2023). Testing a Biobehavioral Model of Food Insecurity and Chronic Disease in Hispanic Older Adolescents. Nutrients, 15(4), 1027.
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Publication 2023
Body Fat Brown Oculocutaneous Albinism Skin Umbilicus Waist Circumference Wheelchair

Top products related to «Brown Oculocutaneous Albinism»

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Powerplex 1.2 kit by Promega
The PowerPlex 1.2 kit is a DNA profiling system designed for human identification purposes. It amplifies specific regions of the human genome to generate a unique DNA profile.
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More about "Brown Oculocutaneous Albinism"

Brown Oculocutaneous Albinism, also known as OCA3 or Rufous Oculocutaneous Albinism, is a rare genetic disorder characterized by reduced pigmentation in the skin, hair, and eyes.
This condition is caused by mutations in the OCA2 gene, which plays a crucial role in the production of melanin, the pigment responsible for coloration.
Individuals with Brown Oculocutaneous Albinism typically have reddish-brown or golden-brown skin, hair, and iris color, as well as vision problems such as photophobia, nystagmus, and reduced visual acuity.
The condition is associated with an increased risk of skin cancer due to the reduced melanin levels.
To study Brown Oculocutaneous Albinism, researchers may utilize various tools and techniques, including the PowerPlex 1.2 kit for DNA profiling, RPMI 1640 and DMEM cell culture media, FBS (Fetal Bovine Serum) for cell growth, Glutathione beads for protein purification, LPS extraction kits for endotoxin removal, Polyvinylidene difluoride (PVDF) membranes for Western blotting, and Penicillin and Streptomycin antibiotics for cell culture.
By leveraging PubCompare.ai's AI-powered protocol comparison tools, researchers can streamline their investigations, locate the best protocols, products, and pre-prints from literature, patents, and other sources, and optimize their research on this condition.
This can help accelerate the understanding of the underlying mechanisms, improve diagnostic methods, and develop more effective treatments for individuals affected by Brown Oculocutaneous Albinism.