A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus

2021 ◽  
Author(s):  
Stacie K. Loftus ◽  
Linnea Lundh ◽  
Dawn E. Watkins‐Chow ◽  
Laura L. Baxter ◽  
Erola Pairo‐Castineira ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Structural Variant ◽  
Variant Alleles

scholarly journals Interrogation of CYP 2D6 Structural Variant Alleles Improves the Correlation Between CYP 2D6 Genotype and CYP 2D6‐Mediated Metabolic Activity

2019 ◽  
Vol 13 (1) ◽  
pp. 147-156 ◽  
Author(s):  
Rachel Dalton ◽  
Seung‐been Lee ◽  
Katrina G. Claw ◽  
Bhagwat Prasad ◽  
Brian R. Phillips ◽  
...  
Keyword(s):  
Metabolic Activity ◽  
Structural Variant ◽  
Variant Alleles ◽  
Cyp 2D6

scholarly journals Characterizing the Major Structural Variant Alleles of the Human Genome

Cell ◽  
2019 ◽  
Vol 176 (3) ◽  
pp. 663-675.e19 ◽  
Author(s):  
Peter A. Audano ◽  
Arvis Sulovari ◽  
Tina A. Graves-Lindsay ◽  
Stuart Cantsilieris ◽  
Melanie Sorensen ◽  
...  
Keyword(s):  
Human Genome ◽  
Structural Variant ◽  
Variant Alleles

Oculocutaneous albinism

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
KA Koch ◽  
CB Bussmann
Keyword(s):  
Oculocutaneous Albinism

Diversity of Glycoprotein Deficiencies in Glanzmann’s Thrombasthenia

1985 ◽  
Vol 54 (03) ◽  
pp. 626-629 ◽  
Author(s):  
M Meyer ◽  
F H Herrmann
Keyword(s):  
High Resolution ◽  
Gel Electrophoresis ◽  
Type Ii ◽  
Two Dimensional ◽  
Two Dimensional Gel Electrophoresis ◽  
Structural Variant ◽  
Glanzmann’S Thrombasthenia ◽  
Crossed Immunoelectrophoresis ◽  
Glanzmann's Thrombasthenia ◽  
Platelet Proteins

SummaryThe platelet proteins of 9 thrombasthenic patients from 7 families were analysed by high resolution two-dimensional gel electrophoresis (HR-2DE) and crossed immunoelectrophoresis (CIE). In 7 patients both glycoproteins (GPs) IIb and Ilia were absent or reduced to roughly the same extent. In two related patients only a trace of GP Ilb-IIIa complex was detected in CIE, but HR-2DE revealed a glycopeptide in the position of GP Ilia in an amount comparable to type II thrombasthenia. This GP Ilia-like component was neither recognized normally by anti-GP Ilb-IIIa antibodies nor labeled by surface iodination. In unreduced-reduced two-dimensional gel electrophoresis two components were observed in the region of GP Ilia. The assumption of a structural variant of GP Ilia in the two related patients is discussed.

scholarly journals Common genetic variants and pathways in diabetes and associated complications and vulnerability of populations with different ethnic origins

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sabrina Samad Shoily ◽  
Tamim Ahsan ◽  
Kaniz Fatema ◽  
Abu Ashfaqur Sajib
Keyword(s):  
Diabetes Mellitus ◽  
Chronic Kidney Disease ◽  
Genetic Variants ◽  
Nucleotide Polymorphisms ◽  
Differential Distribution ◽  
East Asians ◽  
Single Nucleotide ◽  
Common Genetic Variants ◽  
Haplotype Frequencies ◽  
Variant Alleles

AbstractDiabetes mellitus is a complex and heterogeneous metabolic disorder which is often pre- or post-existent with complications such as cardiovascular disease, hypertension, inflammation, chronic kidney disease, diabetic retino- and nephropathies. However, the frequencies of these co-morbidities vary among individuals and across populations. It is, therefore, not unlikely that certain genetic variants might commonly contribute to these conditions. Here, we identified four single nucleotide polymorphisms (rs5186, rs1800795, rs1799983 and rs1800629 in AGTR1, IL6, NOS3 and TNFA genes, respectively) to be commonly associated with each of these conditions. We explored their possible interplay in diabetes and associated complications. The variant allele and haplotype frequencies at these polymorphic loci vary among different super-populations (African, European, admixed Americans, South and East Asians). The variant alleles are particularly highly prevalent in different European and admixed American populations. Differential distribution of these variants in different ethnic groups suggests that certain drugs might be more effective in selective populations rather than all. Therefore, population specific genetic architectures should be considered before considering a drug for these conditions.

scholarly journals A naturally occurring structural variant of human growth hormone.

1978 ◽  
Vol 253 (8) ◽  
pp. 2679-2687 ◽  
Author(s):  
U.J. Lewis ◽  
J.T. Dunn ◽  
L.F. Bonewald ◽  
B.K. Seavey ◽  
W.P. Vanderlaan
Keyword(s):  
Growth Hormone ◽  
Human Growth Hormone ◽  
Human Growth ◽  
Structural Variant ◽  
Naturally Occurring

scholarly journals Tyrosinase Nanoparticles: Understanding the Melanogenesis Pathway by Isolating the Products of Tyrosinase Enzymatic Reaction

2021 ◽  
Vol 22 (2) ◽  
pp. 734
Author(s):  
Paul K. Varghese ◽  
Mones Abu-Asab ◽  
Emilios K. Dimitriadis ◽  
Monika B. Dolinska ◽  
George P. Morcos ◽  
...  
Keyword(s):  
Catalytic Activity ◽  
Large Scale ◽  
Magnetic Beads ◽  
Enzymatic Reaction ◽  
Oculocutaneous Albinism ◽  
Transmission Electron ◽  
Hill Kinetics ◽  
Rate Limiting ◽  
Human Tyrosinase

Human Tyrosinase (Tyr) is the rate-limiting enzyme of the melanogenesis pathway. Tyr catalyzes the oxidation of the substrate L-DOPA into dopachrome and melanin. Currently, the characterization of dopachrome-related products is difficult due to the absence of a simple way to partition dopachrome from protein fraction. Here, we immobilize catalytically pure recombinant human Tyr domain (residues 19–469) containing 6xHis tag to Ni-loaded magnetic beads (MB). Transmission electron microscopy revealed Tyr-MB were within limits of 168.2 ± 24.4 nm while the dark-brown melanin images showed single and polymerized melanin with a diameter of 121.4 ± 18.1 nm. Using Hill kinetics, we show that Tyr-MB has a catalytic activity similar to that of intact Tyr. The diphenol oxidase reactions of L-DOPA show an increase of dopachrome formation with the number of MB and with temperature. At 50 °C, Tyr-MB shows some residual catalytic activity suggesting that the immobilized Tyr has increased protein stability. In contrast, under 37 °C, the dopachrome product, which is isolated from Tyr-MB particles, shows that dopachrome has an orange-brown color that is different from the color of the mixture of L-DOPA, Tyr, and dopachrome. In the future, Tyr-MB could be used for large-scale productions of dopachrome and melanin-related products and finding a treatment for oculocutaneous albinism-inherited diseases.

Pharmacogenetic algorithm for predicting daily dose of warfarin in Caucasian patients of Czech origin

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Aleš Tomek ◽  
Tereza Růžičková ◽  
Vojtěch Kaplan ◽  
Zuzana Lacinová ◽  
Simona Kumstýřová ◽  
...  
Keyword(s):  
Validation Cohort ◽  
Warfarin Dose ◽  
Therapeutic Index ◽  
Coefficient Of Determination ◽  
Dose Prediction ◽  
Pharmacogenetic Algorithm ◽  
Daily Dose ◽  
Caucasian Patients ◽  
Variant Alleles ◽  
Initiation Of Therapy

Abstract Objectives Warfarin use is limited by a low therapeutic index and significant interindividual variability of the daily dose. The most important factor predicting daily warfarin dose is individual genotype, polymorphisms of genes CYP2C9 (warfarin metabolism) and VKORC1 (sensitivity for warfarin). Algorithms using clinical and genetic variables could predict the daily dose before the initiation of therapy. The aim of this study was to develop and validate an algorithm for the prediction of warfarin daily dose in Czech patients. Methods Detailed clinical data of patients with known and stable warfarin daily dose were collected. All patients were genotyped for polymorphisms in genes CYP2C9 and VKORC1. Results Included patients were divided into derivation (n=175) and validation (n=223) cohorts. The final algorithm includes the following variables: Age, height, weight, treatment with amiodarone and presence of variant alleles of genes CYP2C9 and VKORC1. The adjusted coefficient of determination is 72.4% in the derivation and 62.3% in the validation cohort (p<0.001). Conclusions Our validated algorithm for warfarin daily dose prediction in our Czech cohort had higher precision than other currently published algorithms. Pharmacogenetics of warfarin has the potential in the clinical practice in specialized centers.

scholarly journals Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse

2021 ◽  
Author(s):  
Almudena Fernández ◽  
Masahiro Hayashi ◽  
Gema Garrido ◽  
Andrea Montero ◽  
Ana Guardia ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Human And Mouse
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