Richard A King
Affiliation: University of Minnesota
- Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosusRobert R Graham
Department of Medicine, Division of Rheumatic and Autoimmune Diseases, University of Minnesota Medical School, Minneapolis, MN, 55455, USA
Am J Hum Genet 71:543-53. 2002..We conclude that HLA class II haplotypes containing DRB1 and DQB1 alleles are strong risk factors for human SLE...
- MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)Richard A King
Department of Genetics, University of Minnesota, Minneapolis, MN, 55455, USA
Am J Hum Genet 73:638-45. 2003..This is the first demonstration of a gene modifying the OCA phenotype in humans...
- Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotypeRichard A King
Department of Medicine, University of Minnesota, Minneapolis, Minn 55455, USA
Hum Genet 113:502-13. 2003....
- P gene mutations associated with oculocutaneous albinism type II (OCA2)William S Oetting
Department of Medicine, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota 55455, USA
Hum Mutat 25:323. 2005..This information will also help define the critical functional domains of the P protein. Mutations associated with OCA2 can be found in the Albinism Database (http://albinismdb.med.umn.edu)...
- The R402Q tyrosinase variant does not cause autosomal recessive ocular albinismWilliam S Oetting
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota 55455, USA
Am J Med Genet A 149:466-9. 2009..We conclude that the codon 402 variant of the tyrosinase gene is not associated with albinism...
- A genome-wide search for quantitative trait loci contributing to variation in seasonal pollen reactivityMalcolm N Blumenthal
Department of Medicine, University of Minnesota, Minneapolis, MN, USA
J Allergy Clin Immunol 117:79-85. 2006..Asthma and atopy represent complex traits for which genetic predisposition has been demonstrated. Pollen sensitivity, whether seasonal or chronic, appears to be a major contributor to the asthmatic phenotype...
- Correlation of grating acuity with letter recognition acuity in children with albinismCurtis R Louwagie
Medical School, University of Minnesota, Minneapolis, Minnesota 55455 0501, USA
J AAPOS 10:168-72. 2006..This study was undertaken to determine whether grating acuity in early childhood can be used as a predictor of letter recognition acuity in patients with albinism...
- Oculocutaneous albinism type 1: the last 100 yearsWilliam S Oetting
Department of Medicine, University of Minnesota, Minneapolis, MN, USA
Pigment Cell Res 16:307-11. 2003..Though much of the research in albinism has involved OCA1, there are many unanswered questions about OCA1 and albinism, in general. The next 100 yr should still provide many surprises as did the first 100 yr...
- Change in visual acuity in albinism in the early school yearsJohanna M Dijkstal
Department of Ophthalmology, University of Minnesota, Mayo Mail Code 493, 420 Delaware Street SE, Minneapolis, MN 55455, USA
J Pediatr Ophthalmol Strabismus 49:81-6; quiz 87. 2012..To determine whether binocular best-corrected visual acuity (B-BCVA) improves in the early school years in patients with albinism and whether this is related to type of albinism, ocular pigment, or appearance of the macula...
- CD14 promoter polymorphisms in atopic families: implications for modulated allergen-specific immunoglobulin E and G1 responsesDuaine R Jackola
The Asthma and Allergy Program, Division of Pulmonary, Allergy and Critical Care Medicine, University of Minnesota Medical School, Minneapolis, MN 55455, USA
Int Arch Allergy Immunol 139:217-24. 2006..We sought to determine if a single nucleotide polymorphism in the CD14 promoter region is associated with atopy in atopic families, and to assess its influence on serum levels of CD14 and allergen-specific IgE and IgG1 responses...
- Identification and characterization of a DNase hypersensitive region of the human tyrosinase geneJames P Fryer
Department of Medicine and Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
Pigment Cell Res 16:679-84. 2003..We believe that this region of homology contains sequences critical in the regulation of the human tyrosinase gene and is a candidate for the location of OCA1 mutations...
- Efficacy of spectacles in persons with albinismJill Anderson
Department of Ophthalmology, University of Minnesota, Minneapolis, USA
J AAPOS 8:515-20. 2004..We sought to evaluate the effect of spectacle correction of refractive error on clinical findings and recorded compliance with refractive corrections, as little detailed data exist...
- The White platelet syndrome: a new autosomal dominant platelet disorderJames G White
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA
Platelets 15:173-84. 2004..However, gray platelets were not present among their circulating cells. The WPS is a unique autosomal dominant condition that can be classified among the platelet granule deficiency disorders...
- A 'touch' of the White platelet syndromeJames G White
Department of Laboratory Medicine, University of Minnesota, Minneapolis, MN 55455, USA
Platelets 16:346-61. 2005..Genetic studies to determine if this is the case are currently in progress...
- X-linked high myopia associated with cone dysfunctionTerri L Young
Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
Arch Ophthalmol 122:897-908. 2004..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia...
- Positive angle kappa in albinismKimberly S Merrill
Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, MN 55455, USA
J AAPOS 8:237-9. 2004..There is a high prevalence of strabismus in patients with albinism. We investigated the prevalence of a positive angle kappa in patients with albinism and report its effect on assessment of binocular alignment...
- The prevalence of attention-deficit/hyperactivity disorder among persons with albinismBeth Kutzbach
Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA
J Child Neurol 22:1342-7. 2007..The prevalence of ADHD among children and adults with albinism is more frequent than that reported among the general population and is not related to binocular best-corrected visual acuity...
- Spectrum of foveal development in albinism detected with optical coherence tomographyPatti S Harvey
Department of Ophthalmology, University of Minnesota, Minneapolis, Minnesota 55455, USA
J AAPOS 10:237-42. 2006..Methods: Eleven patients with albinism and BCVA > or = 20/60 were recruited for OCT. Average central macular thickness was recorded. Presence of an oval annular reflex was determined with binocular indirect ophthalmoscopy...
- A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of AsthmaMalcolm N Blumenthal
Department of Medicine, University of Minnesota, MMC 434 Mayo, 420 Delaware SE, Minneapolis, MN 55455, USA
Hum Genet 114:157-64. 2004..65), 8p (D8S1113, lod=1.60), 12p (D12S372, lod=1.54) and 14q (D14S749, lod=1.70). These results suggest that several regions may harbor genes contributing to the risk for atopy and these may interact with one another in a complex manner...
- Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuitySusan Lee
School of Medicine, University of Minnesota, Minneapolis
J AAPOS 19:562-4. 2015..Staphyloma may be another cause of reduced visual acuity in albinism, particularly with increasing age. It may occur in association with myopia or hyperopia. ..
- Functional genomics tools for the analysis of zebrafish pigmentMichael A Pickart
Department of Oral Sciences and Minnesota Craniofacial Research Training Program MinnCResT, University of Minnesota, Minneapolis, MN, USA
Pigment Cell Res 17:461-70. 2004....
- Grating acuity in albinism in the first three years of lifeSarah J Whang
Departments of Ophthalmology Pediatrics Medicine, and the Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA
J AAPOS 6:393-6. 2002..To compare grating acuity of children 1 to 3 years old with albinism with that of age-matched normal children, and to determine whether ocular pigment and macular structure are predictive of grating visual acuity...
- Gene expression profiling in murine obliterative airway diseaseJeffrey D Lande
Department of Medicine, University of Minnesota Medical School, Minneapolis, USA
Am J Transplant 5:2170-84. 2005..These observations confirm and expand the list of genes and molecular processes that can be studied as potential surrogate markers or targets for intervention of OB...
- New locus for autosomal dominant high myopia maps to the long arm of chromosome 17Prasuna Paluru
Division of Ophthalmology, Children s Hospital of Philadelphia and The University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 44:1830-6. 2003..To map the gene(s) associated with autosomal dominant (AD) high-grade myopia...
- A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo populationZanhua Yi
Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ 85724, USA
Am J Hum Genet 72:62-72. 2003..5%. The estimated prevalence of OCA2 in Navajos is between approximately 1 per 1,500 and 1 per 2,000. We further estimate that this mutation originated 400-1,000 years ago from a single founder...
- Positive angle kappa in albinismC Gail Summers
Am J Ophthalmol 138:1093. 2004