|5.||Metabolic Diseases (Metabolic Disease)
|1.||Summers, C Gail: 9 articles (05/2015 - 06/2004)|
|2.||Gottlob, Irene: 7 articles (07/2015 - 08/2011)|
|3.||King, Richard A: 6 articles (03/2012 - 06/2003)|
|4.||Jeffery, Glen: 6 articles (02/2008 - 05/2002)|
|5.||Sheth, Viral: 5 articles (07/2015 - 08/2011)|
|6.||Proudlock, Frank A: 4 articles (02/2015 - 10/2013)|
|7.||Jeffery, William R: 4 articles (01/2015 - 01/2006)|
|8.||Oetting, William S: 4 articles (03/2009 - 02/2002)|
|9.||Hoffmann, Michael B: 4 articles (06/2008 - 10/2005)|
|10.||Mohammad, Sarim: 3 articles (07/2015 - 08/2011)|
|2.||Monophenol Monooxygenase (Tyrosinase)IBA
09/01/1999 - "This defines a population of albino patients who are tyrosinase-gene- and P-gene-negative and who thus may represent a good study group for searching for additional genes associated with albinism."
04/30/1990 - "In order to study the molecular basis of albinism, we have cloned and characterized the tyrosinase gene of BALB/c mice (c/c). "
10/01/2015 - "OCA1 is the most severe form of albinism, and is caused by mutations in the tyrosinase (TYR) gene, while OCA4 is caused due to mutations in SLC45A2. "
01/01/2014 - "Many tyrosinase mutations are the leading cause of albinism in humans, and it is a prominent biotechnology and pharmaceutical industry target. "
01/01/2014 - "Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity."
10/01/2015 - "This study proposes the loss of binocular vision as direct cause for misrouting of temporal retinal fibers and shifting of the nasotemporal line temporally in albinism. "
02/26/2015 - "In this study we outlined the time course of retinal development in children with albinism. "
05/01/2002 - "It is not known whether there is a dosage relationship between pigmentation and the degree of this underdevelopment, as studies of the retinal effects of albinism have commonly used rodents. "
04/01/1993 - "The variety of retinal sensitivity profiles obtained in this study suggests that, in albinism, considerable intersubject variability in the degree of foveal hypoplasia exists and that albino "foveal" function can reach near-normal levels, for at least some visual tasks."
10/01/2015 - "This normal projection of the retina is severely altered in albinism, in which the nasotemporal line shifted into the temporal retina with temporal retinal fibers cross the midline at the optic chiasm. "
|4.||Oculocutaneous albinism type 1IBA
01/15/2013 - "This study provides a significant insight into the underlying molecular mechanism involved in albinism associated with OCA1A."
01/01/2012 - "OCA1A (66.7%) was the most common subtype in 21 Korean albinism patients, and 70% of patients were heterozygotes for 2 different mutational alleles. "
12/01/2000 - "Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100). "
06/01/2008 - "This study was conducted to test whether such residual abnormalities can also be identified in human carriers of oculocutaneous tyrosinase-related albinism (OCA1a). "
01/15/2013 - "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of albinism characterized by a complete lack of melanin production throughout life and is caused by mutations in the TYR gene. "
|5.||Complementary DNA (cDNA)IBA
04/25/2015 - "To examine the molecular mechanism of albinism and amino acid enrichment in AnJiBaiCha, we used the amplified fragment length polymorphism (cDNA-AFLP) technique to isolate genes that are differentially expressed during periodic albinism in AnJiBaiCha. "
08/30/1988 - "In order to study the molecular aspects of albinism, we analyzed the expression of tyrosinase gene in some amelanotic mutant mice by Northern blotting using mouse tyrosinase cDNA as a probe. "
01/01/1988 - "A study of murine albinism using tyrosinase cDNA."
01/01/1996 - "The purpose of this investigation was to study vision in albinism from 3 perspectives: first, to determine the characteristics of grating acuity development in children with albinism; second, to study the effect of illumination on grating acuity; and third, to define the effect of melanin pigment in the macula on visual acuity. "
05/01/2015 - "Best-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism. "
04/01/2015 - "Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. "
12/01/2014 - "Albinism is an autosomal recessive genetic disorder due to low secretion of melanin. "
11/01/2014 - "Five patients (10 eyes) with previously genetically diagnosed albinism and 5 healthy control subjects (10 eyes) were imaged by a wide-field polarization-sensitive optical coherence tomography system (scan angle: 40 × 40° on the retina), sensitive to melanin contained in the RPE, based on the polarization state of backscattered light. "
|7.||EVAC protocol (CAVE)IBA
08/01/2013 - "This study investigates a set of captive, pigmented Astyanax cavefish collected from the Micos cave locality in 1970, in which albinism appeared over the past two decades. "
02/01/2015 - "Using a Mendelian cave-associated trait as a proof-of-principle, we successfully recovered the genomic position of the albinism locus near the gene Oca2. "
08/01/2013 - "The appearance of albinism in captive Micos cavefish, caused by the same loss-of-function allele present in Pachón cavefish, implies that geographically and phylogenetically distinct cave populations can evolve the same troglomorphic phenotype from standing genetic variation present in the ancestral taxon. "
01/01/2013 - "We demonstrated the utility of this positional information through a QTL analysis of albinism in a surface x Pachón cave F(2) pedigree, using 65 polymorphic markers identified from our integrated assembly. "
01/01/2009 - "While the brown mutant phenotype arose prior to the fixation of albinism in Pachón cave individuals, it is unclear whether the brown mutation arose before or after the fixation of albinism in the linked Yerbaniz/Japonés caves. "
|8.||Nonsense Codon (Nonsense Mutation)IBA
01/01/2012 - "These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon."
03/07/2013 - "Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. "
01/01/2009 - "The authors identified a novel nonsense mutation p.G315X on exon 8 that was not found in 100 non-albinism subjects by DHPLC. "
01/01/2012 - "A nonsense mutation in the tyrosinase gene causes albinism in water buffalo."
12/01/2008 - "Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation."
|9.||Levodopa (L Dopa)FDA LinkGeneric
11/01/2014 - "Levodopa, in the doses used in this trial and for the time course of administration, did not improve visual acuity in subjects with albinism."
11/01/2014 - "This study examines the safety and effectiveness of levodopa on best-corrected visual acuity in human subjects with albinism. "
11/01/2014 - "Does levodopa improve vision in albinism? "
01/01/2015 - "The pigment cells in the albino patches can produce melanin upon treatment with L-DOPA, behaving similarly to pigment cells in albino cavefish and providing additional evidence that oca2 is the gene within the QTL responsible for albinism in cavefish. "
11/01/2014 - "Animal research has shown that supplying a precursor to dopamine, levodopa, may improve visual acuity in albinism by enhancing neural networks. "
|10.||Ocular Albinism type 1IBA
09/01/2012 - "Genetic analysis offers the possibility of early definitive diagnosis of ocular albinism type 1 in a significant portion of boys with clinical signs of albinism."
09/01/2012 - "Four patients with X-linked ocular albinism type 1 were identified from a cohort of 15 boys with clinical signs of albinism using mutation detection methods. "
09/01/2012 - "X-linked ocular albinism type 1 is difficult to differentiate clinically from other forms of albinism in young patients. "
12/01/2000 - "Mutations in the OA1 gene cause ocular albinism type 1 (OA1), an X-linked form of albinism affecting only the eye, with skin pigmentation appearing normal. "
12/01/2005 - "The authors took advantage of the Oa1 mutant mouse in combination with other albinism mouse models (i.e., Tyrosinase and membrane-associated transporter protein [Matp]) to study the function of Oa1, the gene mutated in ocular albinism type 1, in the RPE during development and after birth. "
12/01/2004 - "Efficacy of spectacles in persons with albinism."
|2.||Transplantation (Transplant Recipients)
03/01/2008 - "Seven patients developed other sun-induced skin tumours, three patients were renal transplant recipients, and two patients were HIV-positive, one of whom also suffered from albinism. "
01/01/1981 - "An alloantigenic transplantation system linked to the gene for albinism in linkage group I of Rattus norvegicus has been identified in the congenic pair LEW--LEW.C-4A and designated H-4. "
07/01/1997 - "Successful repigmentation was achieved in 6 patients with three types of hypomelanosis (vitiligo, piebaldism, and albinism) by transplantation of fresh, autologous cultured epithelium with melanocytes. "
01/01/1996 - "Having rejected other possible causes that can favor the appearance of basal cell carcinoma during childhood (basal cell nevus syndrome, nevus sebaceus, albinism, etc.), we believe that this case should be added to the five previously reported in the literature as basal cell carcinoma developing at an early age in cranial radiation portals with megavoltage radiotherapy. "
11/01/2007 - "In addition to occurring in children with albinism, Bazex syndrome, basal cell carcinoma nevus syndrome, nevus sebaceus, radiotherapy-treated cancers, solid organ transplants, and xeroderma pigmentosum, childhood onset basal cell carcinoma has also occurred, albeit less commonly, de novo. "
10/01/2005 - "Monocular VEPs were recorded in 16 subjects with albinism and in 16 controls from occipital electrodes to pattern-onset stimulation in 1 of 10 adjacent rectangular apertures along the horizontal meridian covering a total of +/-27 degrees. "
01/01/1994 - "We conclude that use of a diffuse flash stimulus and a bipolar electrode derivation that compares differences between the left and right occipital hemispheres will clearly differentiate albinism from all other conditions, making it especially useful in a pediatric population."