Albinism: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.Albinism, Oculocutaneous: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.Monophenol Monooxygenase: An enzyme of the oxidoreductase class that catalyzes the reaction between L-tyrosine, L-dopa, and oxygen to yield L-dopa, dopaquinone, and water. It is a copper protein that acts also on catechols, catalyzing some of the same reactions as CATECHOL OXIDASE. EC 1.14.18.1.Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Nystagmus, Pathologic: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)Hypopigmentation: A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.Folklore: The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.Melanosomes: Melanin-containing organelles found in melanocytes and melanophores.Nystagmus, Congenital: Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)Eye Color: Color of the iris.Melanocytes: Mammalian pigment cells that produce MELANINS, pigments found mainly in the EPIDERMIS, but also in the eyes and the hair, by a process called melanogenesis. Coloration can be altered by the number of melanocytes or the amount of pigment produced and stored in the organelles called MELANOSOMES. The large non-mammalian melanin-containing cells are called MELANOPHORES.Pigmentation: Coloration or discoloration of a part by a pigment.Piebaldism: Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.Melanins: Insoluble polymers of TYROSINE derivatives found in and causing darkness in skin (SKIN PIGMENTATION), hair, and feathers providing protection against SUNBURN induced by SUNLIGHT. CAROTENES contribute yellow and red coloration.Pigmentation DisordersEvoked Potentials, Visual: The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.Chediak-Higashi Syndrome: A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.Skin Pigmentation: Coloration of the skin.Membrane Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.Photophobia: Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.Electronystagmography: Recording of nystagmus based on changes in the electrical field surrounding the eye produced by the difference in potential between the cornea and the retina.Pontederiaceae: A plant family of the order Liliales, subclass Liliidae, class Liliopsida (monocotyledons). Most species are perennials, native primarily to tropical America. They have creeping rootstocks, fibrous roots, and leaves in clusters at the base of the plant or borne on branched stems. The fruit is a capsule containing many seeds, or a one-seeded winged structure.Eye ProteinsGenetic Diseases, X-Linked: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.Characidae: A family of fresh water fish in the order CHARACIFORMES, which includes the Tetras.Social Alienation: The state of estrangement individuals feel in cultural settings that they view as foreign, unpredictable, or unacceptable.Catechol Oxidase: An enzyme of the oxidoreductase class that catalyzes the reaction between catechol and oxygen to yield benzoquinone and water. It is a complex of copper-containing proteins that acts also on a variety of substituted catechols. EC 1.10.3.1.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Caves: Geological formations consisting of underground enclosures with access from the surface.Chondrodysplasia Punctata: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Hair Color: Color of hair or fur.Optic Chiasm: The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes.Fovea Centralis: An area approximately 1.5 millimeters in diameter within the macula lutea where the retina thins out greatly because of the oblique shifting of all layers except the pigment epithelium layer. It includes the sloping walls of the fovea (clivus) and contains a few rods in its periphery. In its center (foveola) are the cones most adapted to yield high visual acuity, each cone being connected to only one ganglion cell. (Cline et al., Dictionary of Visual Science, 4th ed)Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells.Platelet Storage Pool Deficiency: Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.Pigment Epithelium of Eye: The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.Guinea: A republic in western Africa, south of SENEGAL and MALI, east of GUINEA-BISSAU. Its capital is Conakry.Visual Acuity: Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.Kallmann Syndrome: A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.Fundus Oculi: The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)Prader-Willi Syndrome: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)Puerto Rico: An island in the Greater Antilles in the West Indies. Its capital is San Juan. It is a self-governing commonwealth in union with the United States. It was discovered by Columbus in 1493 but no colonization was attempted until 1508. It belonged to Spain until ceded to the United States in 1898. It became a commonwealth with autonomy in internal affairs in 1952. Columbus named the island San Juan for St. John's Day, the Monday he arrived, and the bay Puerto Rico, rich harbor. The island became Puerto Rico officially in 1932. (From Webster's New Geographical Dictionary, 1988, p987 & Room, Brewer's Dictionary of Names, 1992, p436)Receptor, Melanocortin, Type 1: A melanocortin receptor subtype found primarily in MELANOCYTES. It shows specificity for ALPHA-MSH and ADRENOCORTICOTROPIC HORMONE. Loss of function mutations of the type 1 melanocortin receptor account for the majority of red hair and fair skin recessive traits in human.Melanophores: Chromatophores (large pigment cells of fish, amphibia, reptiles and many invertebrates) which contain melanin. Short term color changes are brought about by an active redistribution of the melanophores pigment containing organelles (MELANOSOMES). Mammals do not have melanophores; however they have retained smaller pigment cells known as MELANOCYTES.Sunscreening Agents: Chemical or physical agents that protect the skin from sunburn and erythema by absorbing or blocking ultraviolet radiation.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Zimbabwe: A republic in southern Africa, east of ZAMBIA and BOTSWANA and west of MOZAMBIQUE. Its capital is Harare. It was formerly called Rhodesia and Southern Rhodesia.Oxidoreductases: The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)Adaptor Protein Complex beta Subunits: A family of large adaptin protein complex subunits of approximately 90-130 kDa in size.Sunburn: An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.Hemorrhagic Disorders: Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).Iris Diseases: Diseases, dysfunctions, or disorders of or located in the iris.Ceroid: A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions.Visual Pathways: Set of cell bodies and nerve fibers conducting impulses from the eyes to the cerebral cortex. It includes the RETINA; OPTIC NERVE; optic tract; and geniculocalcarine tract.

Giant eyes in Xenopus laevis by overexpression of XOptx2. (1/186)

Overexpression of XOptx2, a homeodomain-containing transcription factor expressed in the Xenopus embryonic eye field, results in a dramatic increase in eye size. An XOptx2-Engrailed repressor gives a similar phenotype, while an XOptx2-VP16 activator reduces eye size. XOptx2 stimulates bromodeoxyuridine incorporation, and XOptx2-induced eye enlargement is dependent on cellular proliferation. Moreover, retinoblasts transfected with XOptx2 produce clones of cells approximately twice as large as control clones. Pax6, which does not increase eye size alone, acts synergistically with XOptx2. Our results suggest that XOptx2, in combination with other genes expressed in the eye field, is crucially involved in the proliferative state of retinoblasts and thereby the size of the eye.  (+info)

Induction of melanoma in TPras transgenic mice. (2/186)

In order to study the oncogenesis of melanocytes, transgenic mouse lines were established that express a mutated human Ha-ras (TPras) gene in pigment producing cells. The ras transgenic mice exhibit an altered phenotype, including melanocytic hyperplasia and a muted agouti coat, indicative of hyperproliferative melanocytes. These mice and their wild-type littermates have been subjected to a variety of carcinogenesis protocols, including 7, 12-dimethylbenz-[a]anthracene (DMBA), 12-O-tetradecanoylphorbol-13-acetate (TPA) and UV radiation exposure. Topical DMBA treatment of TPras mice resulted in a high incidence of melanomas. Metastatic lesions were observed in skin, lungs and lymph nodes. TPA treatment of TPras mice induced a small number of papillomas but no nevi or melanomas. UV light exposures induced papillomas in negative littermate and melanomas in some albino TPras mice. These results show that melanocytes expressing an activated Ha-ras in the TPras transgenic mice are susceptible to induction of melanoma by DMBA.  (+info)

Genetic disorders of vision revealed by a behavioral screen of 400 essential loci in zebrafish. (3/186)

We examined optokinetic and optomotor responses of 450 zebrafish mutants, which were isolated previously based on defects in organ formation, tissue patterning, pigmentation, axon guidance, or other visible phenotypes. These strains carry single point mutations in >400 essential loci. We asked which fraction of the mutants develop blindness or other types of impairments specific to the visual system. Twelve mutants failed to respond in either one or both of our assays. Subsequent histological and electroretinographic analysis revealed unique deficits at various stages of the visual pathway, including lens degeneration (bumper), melanin deficiency (sandy), lack of ganglion cells (lakritz), ipsilateral misrouting of axons (belladonna), optic-nerve disorganization (grumpy and sleepy), inner nuclear layer or outer plexiform layer malfunction (noir, dropje, and possibly steifftier), and disruption of retinotectal impulse activity (macho and blumenkohl). Surprisingly, mutants with abnormally large or small eyes or severe wiring defects frequently exhibit no discernible behavioral deficits. In addition, we identified 13 blind mutants that display outer-retina dystrophy, making this syndrome the single-most common cause of inherited blindness in zebrafish. Our screen showed that a significant fraction (approximately 5%) of the essential loci also participate in visual functions but did not reveal any systematic genetic linkage to particular morphological traits. The mutations uncovered by our behavioral assays provide distinct entry points for the study of visual pathways and set the stage for a genetic dissection of vertebrate vision.  (+info)

Extrinsic modulation of retinal ganglion cell projections: analysis of the albino mutation in pigmentation mosaic mice. (4/186)

Tyrosinase is a key enzyme involved in the synthesis of melanin in the retinal pigment epithelium (RPE). Mice that are homozygous for the albino allele at the tyrosinase locus have fewer retinal ganglion cells with uncrossed projections at the optic chiasm. To determine the site of the albino gene action we studied the projections of retinal ganglion cells in two types of pigmentation mosaic mice. First, we generated mosaic mice that contain a translocated allele of the wild-type tyrosinase on one X chromosome but that also have the lacZ reporter transgene on the opposite X chromosome. In these lacZ/tyrosinase mice, which are homozygous for the albino allele on chromosome 7, X-inactivation ensures that tyrosinase cannot be functional within 50% of the retinal ganglion cells and that these individual cells can be identified by their expression of the lacZ reporter gene product, beta-galactosidase. The proportion of uncrossed retinal ganglion cells expressing beta-galactosidase was found to be identical to the proportion that did not express it, indicating that the albino mutation associated with axonal behavior at the optic chiasm must affect ganglion cells in a cell-extrinsic manner. Second, to determine whether the RPE is the source of the extrinsic signal, we generated aggregation chimeras between pigmented and albino mice. In these mosaic mice, the extent of the uncrossed projection corresponded with the amount of pigmented cells within the RPE, but did not correspond with the genotypes of neural retinal cells. These studies demonstrate that the albino mutation acts indirectly upon retinal ganglion cells, which in turn respond by making axonal guidance errors at the optic chiasm.  (+info)

Genetically determined protein polymorphism in the rabbit nervous system. (5/186)

One of the polypeptides (H1) of the rabbit nervous system occurs in an altered form (H2) in some rabbits. The electrophoretic mobility of H2 on sodium dodecyl sulfate-polyacrylamide gels is about 6% greater than that of H1, suggesting that the two polypeptides differ in molecular weight by about 10,000. The alteration is genetically determined since (i) rabbit phenotypes corresponding to all possible genotypes (H1H1, H1H2, H2H2) were present in an outbred population of rabbits, (ii) the frequency of the phenotype corresponding to the heterozygous genotype (H1H2) was smaller in partially inbred rabbit populations than in outbred populations, and (iii) all of the individuals examined from two partially inbred strains (WH/J and X/J) were of the phenotype that would be expected if they were homozygous (H2H2) for the rare allele of the gene. Preliminary evidence indicates that this polymorphic polypeptide is most abundant in the white matter of the nervous systems of several mammalian species, and is distributed with buffers of low ionic strength and centrifuged at 100,000 Xg.  (+info)

arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (6/186)

Myosin Va is an actin-associated motor protein involved in organelle transport such as melanosomes and neuron synaptic vesicles and has always been proposed as the candidate gene for the autosomal recessive Griscelli-Prunieras syndrome, one of the silvery hair syndromes, which is a lethal disease combining immunodeficiency and neurologic and pigmentary abnormalities. Thus far, two mutations in the myosin Va gene have been described to be associated with this syndrome. One of these mutations was a homozygous mis-sense mutation causing an arginine to cysteine alteration at codon 1246. Because we also found this particular substitution after mutation analysis of a Griscelli patient, we checked its relevance in a control group of 124 unrelated healthy individuals and found it to be present, even in homozygous state, in normal unaffected individuals. It is clear that this arg1246cys substitution is a polymorphism occurring in the human population and not occurring in association with Griscelli syndrome. Distinguishing a polymorphism from a bona fide mutation is of utmost importance and has major ethical implications with regard to prenatal genetic counseling in affected families.  (+info)

X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. (7/186)

A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other.  (+info)

Bile mediates intestinal pathology in endotoxemia in rats. (8/186)

Intestinal pathology frequently accompanies experimental endotoxic shock and is mediated by proinflammatory cytokines. Our hypotheses are that hepatobiliary factors operating from the luminal side of the gut make a major contribution to this damage and that tumor necrosis factor alpha (TNF-alpha) is involved in the pathology. We treated rats with lipopolysaccharide (LPS) intravenously and found that external drainage of bile totally protected the gastrointestinal tract, macroscopically and microscopically, 4 h after LPS administration and dramatically improved survival of the animals for 48 h after LPS administration. The concentration of TNF-alpha in bile increased markedly after LPS administration and was over 30 times higher in bile than in serum. Tissue damage and the biliary TNF-alpha response were abrogated when animals were pretreated with gadolinium chloride to eliminate Kupffer cells. TNF-alpha infusion into the duodenal lumen caused intestinal damage similar to that elicited by intravenous LPS. In rats treated with LPS, survival was significantly increased during the first 36 h in animals given an infusion of anti-TNF-alpha antibody into the duodenum. These results demonstrate that in endotoxemia, intestinal damage is mediated by factors derived from the bile. The findings indicate that luminally acting TNF-alpha contributes to the intestinal damage.  (+info)

*Photophobia

"Albinism". MedicinePlus Medical Encyclopedia. United States National Library of Medicine. Retrieved December 11, 2009. Harris, ... Albinism Ariboflavinosis Benzodiazepines (long-term use of or withdrawal from benzodiazepines) Chemotherapy Chikungunya ... Due to albinism, the lack of pigment in the colored part of the eyes (irises) makes them somewhat translucent. This means that ...

*Erythrism

... in katydids Albinism Amelanism Dyschromia Heterochromia iridum Leucism Melanism Piebaldism Red hair Vitiligo ...

*Chédiak-Higashi syndrome

People with CHS have light skin and silvery hair (albinism) and frequently complain of solar sensitivity and photophobia. Other ... The decrease in phagocytosis results in recurrent pyogenic infections, albinism and peripheral neuropathy. It occurs in humans ... The syndrome is associated with oculocutaneous albinism. Persons are prone for infections, especially with Staphylococcus ... Associated features include abnormalities in melanocytes (albinism), nerve defects, bleeding disorders. There is no specific ...

*Albinism

The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects ... The chance of offspring with albinism resulting from the pairing of an organism with albinism and one without albinism is low. ... Albinism usually occurs with equal frequency in both sexes. An exception to this is ocular albinism, which it is passed on to ... The symptoms of albinism can be assisted by various methods. Since there is no cure for albinism, it is managed through ...

*SLC45A2

"Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan". American Journal of Human Genetics. 74 (3 ... Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y (January 2005). "A Korean case of oculocutaneous albinism type IV ... GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4 This article incorporates text from the United States National ... Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript ...

*Hermansky-Pudlak syndrome

There are three main disorders caused by Hermansky-Pudlak syndrome, which result in these symptoms: Albinism and eye problems: ... 4 (2): 426-8. GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome Hermansky-Pudlak Syndrome Network NOAH/albinism.org ... January 2006). "Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations ... synd/2220 at Who Named It? Hermansky, F; Pudlak, P (1 February 1959). "Albinism associated with hemorrhagic diathesis and ...

*TYRP1

... in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"". Am. J. ... Mutations in the mouse Tyrp1 gene are associated with brown pelage and in the human TYRP1 gene with oculocutaneous albinism ... Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M (1997). "Rufous oculocutaneous albinism in southern African Blacks ... Sarangarajan R, Boissy RE (2001). "Tyrp1 and oculocutaneous albinism type 3". Pigment Cell Res. 14 (6): 437-44. doi:10.1034/j. ...

*Tyrosinase

GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 1 Tyrosinase at the US National Library of Medicine Medical ... A mutation in the tyrosinase gene resulting in impaired tyrosinase production leads to type I oculocutaneous albinism, a ... Witkop CJ (Oct 1979). "Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared ... in all types of oculocutaneous and ocular albinism". The Alabama Journal of Medical Sciences. 16 (4): 327-30. PMID 546241. Ando ...

*Oculocutaneous albinism

... (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some ... "Ocular Manifestations of Albinism", by Dr. Mohammed O. Peracha, at eMedicine, 13 September 2005; retrieved 31 March 2007 " ... Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several ... Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal ...

*Ocular albinism

... is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are ... it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked. "Ocular albinism ... Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, ... ISBN 0-7216-2921-0. Hutton SM, Spritz RA (March 2008). "A comprehensive genetic study of autosomal recessive ocular albinism in ...

*Albinism in biology

Imperfect albinism - when melanin is reduced in the eyes, skin and feathers. Partial albinism - when albinism is localized to ... In one study, albinism in birds has been categorised according to the extent of pigment absence. - Total albinism - a ... In mice, a total of 100 genes are known to affect albinism. All the genetic traits for albinism are recessive traits. This ... However, it has been argued that the definition of albinism precludes the possibility of "partial albinism" in which a mostly ...

*Albinism-deafness syndrome

Albinism Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 928. ... Albinism-deafness syndrome (also known as "Woolf syndrome" and "Ziprkowski-Margolis syndrome") is a condition characterized by ... July 1990). "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20-7. ... Zlotogora J (November 1995). "X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis". Am. J. Med. ...

*Ocular albinism type 1

... (OA1), also called Nettleship-Falls syndrome, is the most common type of ocular albinism, with a ... Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA). There occur at least ten different types of OCA and ... Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or ... The term albinism [L. albus means 'white'] refers to a heterogeneous group of congenital disorders in melanin pigment ...

*Oculocutaneous albinism type I

... or -Type 1A (OCA1A) is an autosomal recessive skin disease associated with albinism. This type ... of albinism is caused when the gene OCA1 does not function properly. The location of OCA1 may be written as "11q1.4-q2.1", ...

*National Organization for Albinism and Hypopigmentation

Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for ... A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of ... Because the condition of albinism is rare and many people with albinism are the only ones in their families or communities, ... accurate information about albinism and to connect with someone in the albinism community who is willing to listen and offer ...

*DMOZ - Health: Conditions and Diseases: Skin Disorders: Albinism

Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition ... National Organization for Albinism and Hypopigmentation An organization where people with albinism, their families and those ... Albinism Features information on this disorder and its alternative names. A definition and a look at the causes, incidence and ... Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition ...

*Elizabeth Gertrude Britton

Knight, Elizabeth G. (November 1881). "Albinism". Bulletin of the Torrey Botanical Club. 8 (11): 125. JSTOR 2475890. "ELIZABETH ...

*List of OMIM disorder codes

OCA2 Albinism, brown; 203290; TYRP1 Albinism, oculocutaneous, type IA; 203100; TYR Albinism, oculocutaneous, type IB; 606952; ... TYR Albinism, oculocutaneous, type II; 203200; OCA2 Albinism, rufous; 278400; TYRP1 Alcohol sensitivity, acute; 610251; ALDH2 ... MITF Waardenburg syndrome/albinism, digenic; 103470; TYR Waardenburg syndrome/ocular albinism, digenic; 103470; MITF Wagner ... TTN Tietz albinism-deafness syndrome; 103500; MITF Timothy syndrome; 601005; CACNA1C Tn syndrome; 300622; C1GALT1C1 Toenail ...

*Zephania Kameeta

Kameeta has Albinism. His prominent role in society has helped fellow albinism sufferers gain better understanding and ...

*Bioptics (device)

"Albinism and Driving". NOAH.org. East Hampstead, NH: National Organization for Albinism and Hypopigmentation. 2002. Retrieved ... East Hampstead, NH: National Organization for Albinism and Hypopigmentation. 2002. Retrieved April 22, 2009. Cerman, E. "Mini- ... especially those with albinism. They can either be a combination of head-mounted eyeglasses (termed the "carrier") and ...

*Piebald

Pigmentation Albinism Amelanism Dyschromia Erythrism Heterochromia iridum Leucism Melanism Piebaldism Skewbald Vitiligo ... Schaible, R H (1979) Chapter 146, Introduction to Hypopigmentation; Chapter 147, Albinism; Chapter 148, Piebaldism; Chapter 149 ...

*Cream gene

Albinism Association of Australia. "What is Albinism?". Archived from the original on 2009-09-24. Retrieved 2009-11-02. Rieder ... Type IV oculocutaneous albinism, like other types of human albinism, results in hypopigmentation of the skin and eyes, with ... The gene is best known in humans as being the location of a mutation that results in human type IV oculocutaneous albinism ( ... There also were known health implications of albinism in humans, and cultural prejudices; while a heroic figure such as Roy ...

*Heterosis

Davenport CB (1908). "Degeneration, albinism and inbreeding". Science. 28 (718): 454-5. Bibcode:1908Sci....28..454D. doi: ...

*Pelvicachromis pulcher

Unlike normal albinism, the trait is not recessively inherited in P. pulcher. The trait is incompletely dominant. Like many ... ISBN 3-928819-33-X. James K. Langhammer (1982). "Albinism in Pelvicachromis pulcher". Buntbarsche Bulletin. 93. ...
Looking for Albino animals? Find out information about Albino animals. The state of having colorless chromatophores, which results in the absence of pigmentation in animals that are normally pigmented. A hereditary, metabolic... Explanation of Albino animals
Purpose: Preconditioning of albino mice using moderate intensity cyclic light may be confounded due to shortened photoreceptor outer segments and reduced rhodopsin expression such that the retinas are less sensitive to light. We hypothesize that preconditioning can be induced in pigmented mice with brief, sub-toxic light exposure. Here we describe the parameters used to induce such preconditioning.. Methods: Sixty-four male 129sv mice were obtained from Charles River (100 days old) and kept in a 12:12 light: dark cycle. Light-preconditioning was done using the following procedure: mice were treated with 1% atropine eye drops at 9:00AM and maintained in the dark for 1 hour to allow the pupils to dilate. Non-toxic light exposure consisted of 5k lux of white light for four hours using a LED lamp. Light-preconditioning was done either 1 or 3 days before LIRD. LIRD was done according to the following procedure: at 9:00AM mice were treated with 1% atropine eye drops and maintained in the dark for 1 ...
Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as Chédiak-Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells leading to increased susceptibility to infection. Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. It is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. It is the opposite of melanism. Unlike humans, other animals have multiple pigments and for these, albinism is considered to be a hereditary condition characterised by the absence of melanin in particular, in the ...
NOAH is a volunteer organization which provides people with albinism, their families and those that work with them the opportunity to get information, ask questions, share their experiences, and connect with the albinism community. Resources are also available for those doing research on albino people. NOAH is a volunteer organization which provides people with albinism, their families and those that work with them the opportunity to get information, ask questions, share their experiences, and connect with the albinism community. Resources are also available for those doing a report on albino people.
For the latest news, events and information about the albinism community, subscribe to Albinism InSight today. NOAH is a volunteer organization which provides people with albinism, their families and those that work with them the opportunity to get information, ask questions, share their experiences, and connect with the albinism community. Resources are also available for those doing a report on albino people.
Rod and mixed rod-cone function was assessed by full field ERG following overnight dark adaptation. At baseline, BALB/c mice were characterized by lower b- and a-wave amplitudes as compared with C57Bl/6J age-matched mice (e.g., at the highest dark-adapted stimulus intensity of 10 cd*s/m2, mixed-rod cone b-wave amplitude was 436 ± 20 μV in BALB/c mice versus 609 ± 45 μV in C57Bl/6J and a-wave amplitude was 161 ± 8 μV versus 333 ± 30 μV; mean ± SEM, P , 0.00001, Fig. 2). Twenty-four hours following a single injection of 50 mg/kg of SI, rod-dominated ERG responses in BALB/c mice were reduced by more than 50% as compared to baseline. Dark-adapted responses in C57Bl/6J mice were better preserved. Moreover, b-wave amplitudes in C57Bl/6J mice were not statistically different from the baseline level at highest stimulus intensities. At this time point, cone-dominated responses in BALB/c were not different from the baseline at most stimulus intensities. Unexpectedly, C57Bl/6J mice showed ...
Looking for Albinism, ocular? Find out information about Albinism, ocular. The state of having colorless chromatophores, which results in the absence of pigmentation in animals that are normally pigmented. A hereditary, metabolic... Explanation of Albinism, ocular
Albinism also results in white feathers but true albinos are thought to be rare in the wild. Albinism is caused by a genetic mutation causing an absence of tyrosinase in pigment cells. An albino individual is unable to produce melanin pigments. This leads to a good diagnostic feature with which to distinguish leucistic and albino individuals - the colour of the eye.. Albinos have pink eyes while the iris pigmentation of leucistic birds remains dark. Most albino birds die soon after fledging, primarily as a consequence of their poor eyesight, and albino birds are not thought to progress to adulthood in the wild. As with leucistic individuals, albinos can retain carotenoid pigments if normally present in the plumage. A common misnomer is partial albino - this is not possible since albinism affects the whole plumage of a bird, not just part.. If you have seen a bird with unusual plumage in your garden please complete our simple online questionnaire. ...
Albinism in children - What are the chances of a person with albinism passing his problem to their children? X-linked or recesiv. The transmission of albinism will depend on the form involved. A male may have an x-linked or autosomal recessive (ar) form. A female is most likely to have the recessive form. A male would not pass it to his sons but could pass the carrier state to his unaffected daughters who might pass it to her sons. The ar albino only passes a carrier state unless the spouse carries the ar gene.
Despite his focus solely on Tanzania, Broccos study illustrates the effect that family ties, globalization and religion can have on the lives of people with albinism worldwide. Albinism, like other illnesses, diseases and other congenital conditions, can make people more vulnerable and affect their social and economic status. But there is hope. Religious views which see the condition as simply Gods will coupled with the work of charities towards normalizing the condition and family/social support can help people with albinism develop their own sense of identity, overcome the stigma and lead normal lives.. NOTE TO JOURNALISTS. When referencing the article: Please include Journal title, Author, published by Taylor & Francis and the following statement:. * Read the full article online: http://tandfonline.com/doi ...
Albinism Essay, Research Paper Albinism In the past, albinos were usually treated with fear or awe. They were sometimes killed at birth. Albino births were common enough in some groups not to cause any excitement. For example, among the San Blas Indians of Panama, one in approximately 130 births is an albino.
The past decade has brought news of an atrocity, mainly from Africa: the slaughter of humans with albinism for their body parts for use in ritual magic. Bodies are usually found headless and missing one or more limbs, but sometimes are completely torn apart, missing even internal organs. The reason is, of course, pure unadulterated pseudoscience; we can confidently state that there is no magical benefit to the use of unpigmented body parts, and thats to say nothing of the abhorrence of murder for any purpose. Clearly there are some fictional beliefs out there concerning the nature of people with albinism, and today were going to look at some more of these beliefs that might be held even by those of us who are not into black magic.. But the use of their body parts in ritual magic is the elephant in the room. Arms and legs are the witch doctors preferred bits. They are used as charms and talismans, and other body parts also have magical value, such as hair being sewn into fishing nets to bring ...
www.abinism.org Work Cited Staff, Mayo Clinic. Definition. Mayo Clinic. Mayo Foundation for Medical Education and Research, 02 Apr. 2011. Web. 09 May 2013. ,http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=symptoms,. (affected) http://geneticdisordersp7.wikispaces.com/Albinism http://en.wikipedia.org/wiki/File:Reading_glasses. ...
Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.
Humans, animals, and even plants can have albinism, a condition that gives people a kind of . Albinism is a genetic condition where people are born without the usual . So can talking to a counselor or therapist to get ideas on coping with the ...
Webvision summarizes recent advances in knowledge and understanding of the visual system through dedicated chapters and evolving discussion to serve as a clearing house for all things related to retina and vision science.. Contact: [email protected] ...
Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition arising from the combination of recessive genes passed from both parents of an individual. A variety of problems with photosensitivity in eyesight and skin usually result from the condition.
Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition arising from the combination.
Multiplex Ligation-dependent Probe Amplification (MLPA) for deletuion/ duplication ananlysis , Sequence analysis of the entire coding region Albinism are thetests Panel includes sequence analysis of the following 20 genes: TYR, OCA2, TYPR1, SLC45A2,
Albinism refers to a group of rare inherited disorders that are present from birth. Albinism affects the amount of pigment found in the skin, hair, and eyes. People with albinism usually have little to no pigment in their eyes, skin, and hair, but the degree of pigment loss can be quite variable. There are four types of Albinism:. ...
to keep up on current issues that may be related to my children.. Both children are mainstreamed into a public charter school so I was recently reviewing the "Students with Albinism" section of the Web site. I came upon the question that perked my interest: Does My Student Need Braille? The response on the Web site reads, "Probably not. Most students with albinism have sufficient vision to use standard text, even if they need to use large print text or low vision aides. If your student with albinism is having difficulty reading print or tires of it easily, look into books on tape as an alternative.". I have to admit I was surprised at the belief and attitude NOAHs leadership has taken toward Braille. I feel that its one thing to take a position or give an opinion that most children with albinism will not need Braille (which I dont agree with), but the statement on your Web site could easily mislead parents about educational requirements.. The law clearly states that any visually impaired ...
Growing up, we were told that people with albinism are different from us and the common perception was that they dont die, they disappear," Nomsa Zondo tells The Daily Vox as she sweeps the small yard in front of her home. She says that ...
Albinism Trust has a number of organisations which we confidently recommend. Listed below are a selection of useful resources. ...
Dr. Pollard responded: Yes. There are two principle types, the first which affects only the eyes, and the other which affects the eyes, hair and skin.
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A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Oculocutaneous albinism type 2
This tyrosinase-positive type of albinism is sometimes called rufous (ROCA) or brown (BOCA) oculocutaneous albinism and is frequently found in dark-skinned individual such as Africans, African-Americans, and Hispanics. Like other types it is inherited in an autosomal recessive pattern. Mutations in the tyrosinase-related protein-1, TYRP1 (9p23), are responsible which seems to lead to an arrest in melanin maturation and a decrease in the amount of insoluble melanin in melanocytes.. Other autosomal recessive types of oculocutaneous albinism are: OCA1 (203100, 606952), OCA2 (203200), and OCA4 (606574). ...
Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types
If your child lacks pigment in his or her hair or skin at birth that affects the eyelashes and eyebrows - as is often the case in infants with albinism - your doctor will likely order an eye exam and closely follow any changes in your childs pigmentation.. For some infants, the first sign of albinism is poor visual tracking. This may be followed at 3 to 4 months of age by rapid back-and-forth shifting (nystagmus) in the eyes. If you observe these signs in your baby, talk to your doctor.. Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections. These signs and symptoms may indicate the presence of Hermansky-Pudlak or Chediak-Higashi syndromes, which are rare but serious genetic disorders.. Albinism is caused by a mutation in one of several genes. Each of these genes provides instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your ...
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically ...
CRISPR/Cas9 has become a powerful genome-editing tool for introducing genetic changes into crop species. In order to develop capacity for CRISPR/Cas9 technology in the tropical staple cassava (Manihot esculenta), the Phytoene desaturase (MePDS) gene was targeted in two cultivars using constructs carrying gRNAs targeting two sequences within MePDS exon 13. After Agrobacterium-mediated delivery of CRISPR/Cas9 reagents into cassava cells, both constructs induced visible albino phenotypes within cotyledon-stage somatic embryos regenerating on selection medium and the plants regenerated therefrom. A total of 58 (cv. 60444) and 25 (cv. TME 204) plant lines were recovered, of which 38 plant lines (19 from each cultivar) were analysed for mutagenesis. The frequency of plant lines showing albino phenotype was high, ranging from 90% to 100% in cv. TME 204. Observed albino phenotypes were comprised of full albinos devoid of green tissue and chimeras containing a mixture of white and green tissues. Sequence
Retinal axons undergo several changes in organization as they pass through the region of the optic chiasm and optic tract. We used immunocytochemistry to examine the possible involvement of fibroblast growth factor receptors (FGFR) in these changes in retinal axon growth. In the retina, at all ages examined, prominent staining for FGFR was seen in the optic fiber layer and at the optic disk. At embryonic day 15 (E15), FGFR immunoreactivity was also detected in the ganglion cell layer, as defined by immunoreactivity for islet-1. At later developmental stages (E16 to postnatal day 0), FGFR were found in the optic fiber layer and the inner plexiform layer. In the ventral diencephalon, immunostaining for FGFR was first detected at E13 in a group of cells posterior to the chiasm. These cells appeared to match the neurons that are immunopositive for the stage-specific embryonic antigen-1 (SSEA-1). FGFR staining was also found on the retinal axons at E13. At E14-E16, when most axons are growing across the
Victor Mecoamere Victor MecoamereEntries are being invited for the 2008 National Schools Essay Competition on Albinism, which seeks to squash myths and superstitions about the condition.Albinism is a common yet grossly misunderstood group of inherited yet manageable conditions. People with albinism have little or no pigment or melanin in the eyes, skin and hair.
Abstract: The effects of c and rd on jump-out and one-way avoidance learning were examined using both inbred strains and test crosses. Neither gene was found to retard either escape or avoidance performance in the jump-out task, although rd led to less accurate jumping. One-way performance, which required running through a small hole in a wall, was greatly disrupted in mice homozygous for rd; both escape latencies and learning rate were slower than those of mice with normal retinas. Two inbred strains with albinism did poorly on the one-way task, but no deleterious effects of c on one-way performance were detected in several test crosses. The absence of an albinism effect was not surprising, since all training was given under dim red light.. Contributions of the Genes Albinism (,i,c,/i,) and Retinal Degeneration (,i,rd,/i,) to a Strain-by-Training Procedure Interaction in Avoidance Learning ...
The pointed coat color of Siamese cats is from a gene mutation. A similar mutation is found in humans. As a form of albinism, this gene results in vision problems as well as affecting hair or fur coloration. Includes Siamese cat pictures, first Siamese cat photo, and Siamese cat facts.
Albinism or hypopigmentation is a genetic disorder characterized by the complete or partial absence of pigment called melanin in the skin, hair and eyes. There is no known way to prevent albinism or hypopigmentation.
... is a rare genetic disorder that causes to have no pigment and their skin ,eyes or hair. The symptoms of Albinism deal with eye, skin and hair color. 1 in 17,000 people get the genetic order. This genetic disorder is mostly common in these ethnic groups Native Americans,African Americans, Asians and Africans. This an pie chart with albinos in their population. Two famous celebrities are Shaun Ross and Salif keita. Shaun Ross was pretty much outcast from groups when he was a kid because he look different than others. Later as he started grow up he did signing as teen then a got a modeling job for famous designers now has became very popular shows albinos can do anything and not be judged. It was also the same for Salif Keita. In Africa Salif wanted to be a musician but he was outcasted from his own tribe. Now Salif is called the golden voice of Africa with his amazing singing talent. These two celebrities show that albinos can do anything they dream of.. ...
Even though only about 5 mol% glycosphingolipids are found in cellular membranes, glycosphingolipids are essential during development, as a lack of these lipids was embryonically lethal in mice. A mutant cell line GM95 deficient in these lipids, was derived from the pigmented mouse melanoma cells MEB4. The first observation was ... read more that pigmentation is lost in the mutant glycosphingolipid-deficient GM95 cells. This was caused by mislocalisation of tyrosinase, the rate-limiting enzyme in pigment synthesis. We were able to locate the sorting signal in the lumenal domain of melanocytic proteins. Subsequently, we found that a lumenal determinant, pH, was less acidic in the TGN and lysosomes of mutant GM95 cells compared to the wild-type MEB4 cell line. Interestingly, the pH in both organelles of GM95 was comparable to HeLa cells and mouse fibroblasts. Therefore, it is the wild-type MEB4 cell line that has an abnormally low pH in its TGN and lysosomes. A similar low pH was found in a ...
Ocular albinism, type 1: lt;table class=infobox cellspacing=3 style=border-spacing:3px;width:22em;|>||Ocular Albinis... World Heritage Encyclopedia, the aggregation of the largest online encyclopedias available, and the most definitive collection ever assembled.
The most frequent genetic basis for albinism in Africa is via homozygosity (often via culturally imbedded inbreeding) for an autosomal recessive variant of the gene OCA2 (oculocutaneous albinism type II), which encodes the P protein critically involved in pigmentation [8,102] (figure 1) and whose natural variants in Europeans are linked to skin cancer risk in GWAS [39,103]. Most African albinos have the same 2.7 kb deletion OCA2 mutation, indicative of a founder allele arising before the dispersion of ethnic subgroups throughout Africa 2000-3000 years ago [104]. The same mutation is commonly found in albinos in America of African or mixed African descent [105]. OCA2 type II, unlike type I, retains tyrosinase activity and therefore OCA2 albinos do synthesize pheomelanin (see figure 1) and have a variable capacity to develop pigmented patches or ephelides on exposed skin which may, as in normal white skin, provide some protection from UV damage and cancer [106,107]. Early studies showed that ...
NEURON mod files for the K-A current from the papers: (model) Benison G, Keizer J, Chalupa LM, Robinson DW. Modeling temporal behavior of postnatal cat retinal ganglion cells. J.Theor.Biol. 210:187-199 (2001) and (experiment) Skaliora I, Robinson DW, Scobey RP, Chalupa LM., Properties of K+ conductances in cat retinal ganglion cells during the period of activity-mediated refinements in retinofugal pathways. Eur.J.Neurosci. 7:1558-1568 (1995 ...
Read "A form of albinism in cattle is caused by a tyrosinase frameshift mutation, Mammalian Genome" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Albinism is not just a flaw in appearance. The absence or reduction of the concentration of melanin in the structures of the eye violates the normal development of the ocular system. This leads to the formation of squinting albinos and progressive loss of vision. Conventional forms of strabismus are successfully treated by surgical methods, but with albinism, they have extremely low effectiveness.. Melanin protects us from the harmful effects of ultraviolet irradiation. Its absence eliminates skin and eye structure. Albinos are prone to sunburn. They have a significantly increased risk of developing skin cancer. Therefore, they have to be carefully protected with sunscreens and glasses.. Often, with albinism, adjacent genes are also affected, leading to the formation of various syndromes. So, with Chegiak-Higash syndrome there is a combination of albinism with congenital immunity decline. Angelas syndrome is accompanied by a decrease in mental development, microcephaly, hypotension and ...
A group of genetic conditions marked by little or none of the pigment melanin in the skin, hair, and/or eyes. People with albinism may have vision problems and white or yellow hair; reddish, violet, blue or brown eyes; and pale skin.
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Six weeks ago, a little boy was born with a rare condition, which affects only around 35,000 people in the United States, to a young couple living in Aloha Township in Cheboygan County. Khyran Dustin was born with a form of albinism, which causes sensitivity to light, vision impairments and lack of pigment in the skin. He is the son of Sonya and Tel Dustin.
Ms. Ikponwosa Ero (Nigeria) was designated in June 2015 as the first UN Independent Expert on the enjoyment of human rights by persons with albinism. The vision of Ms. Eros mandate is driven by the cross-cutting principle of the UN Sustainable development goals: "leaving no one behind…starting with the furthest behind first." Ms. Ero has over a decade of experience in the research, policy development, and practice of human rights concerning persons with albinism. She has advised organizations and governments around the world on human rights concerning persons with albinism. As the International Advocacy and Legal Officer for Under the Same Sun -- an international organization with a focus on albinism -- she developed strategic initiatives involving regional and international human rights mechanisms, prepared guiding documents, and oversaw the implementation of recommendations made by the UN and other human rights organizations. Ms Ero is also the author of numerous papers and articles, ...
Definition of Nettleshop-Falls albinism. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
A multi-institutional study offers additional insight into the evolutionary process by examining how albinism evolves in cavefish. Researchers, including New York University Biology Professor Richard Borowsky, examined two populations of Mexican cavefish and found that albinism in both populations was linked to Oca2 -- a pigmentation gene also responsible for the most common form of albinism in humans.
According to the National Organization for Albinism and Hypopigmentation, only one out of 17,000 children has some form of albinism. Albinism is caused by a severe lack of the pigment...
What is albinism? For one thing, albinism is a recessive trait. That means both parents have to carry a certain gene. Do you know what a gene is? A gene is what makes you tall or short or gives you brown eyes or blue. If both of your parents are tall, they probably have genes to make them tall, and possibly passed that gene down to you. Well, back to recessive traits. A recessive trait is like a gene that doesn t show up very often. So, since albinism is a recessive trait, that means albinos are rare. And even if both parents carry the right gene(s), not all their offspring will be albino, only one in a few. That is another reason why albinos are so rare ...
After one AmA, someone PMed me from some studio in New York. They were apparently doing some like documentary series on people with hard lives or something like that and wanted to cast me. It couldve just been a troll, like the time someone who was supposedly from Cracked PMed me asking me to write an article on albinism.. Anyway, I responded that my life isnt interesting enough to actually be featured in a documentary. I dont really... do anything :P I referred them to a friend I know in NYC who acts professionally.. Im open to doing a film on albinism, or even just starring in a film. I wish we had as many positive portrays of albinism on film as we did negative. Or even a talk show. Actually someone invited me to be on their podcast but the Google Hangouts app flagged their call as spam and it never happened, I feel so bad :(. Oh God so many tangents! Okay, I would totally be game to be on TV, but more to answer questions rather than just be followed by cameras for a week, they wouldnt ...
The distinction between genotype and phenotype is commonly experienced when studying family patterns for certain hereditary diseases or conditions, for example, hemophilia. Humans and most animals are diploid; thus there are two alleles for any given gene. These alleles can be the same (homozygous) or different (heterozygous), depending on the individual (see zygote). With a dominant allele, the offspring is guaranteed to inherit the trait in question irrespective of the second allele.. In the case of an albino with a recessive allele (aa), the phenotype depends upon the other allele (Aa, aA, aa or AA). An affected person mating with a heterozygous individual (Aa or aA, also carrier) there is a 50-50 chance the offspring will be albinos phenotype. If a heterozygote mates with another heterozygote, there is 75% chance passing the gene on and only a 25% chance that the gene will be displayed. A homozygous dominant (AA) individual has a normal phenotype and no risk of abnormal offspring. A ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. {ECO:0000269,PubMed:11574907, ECO:0000269,PubMed:14722913, ECO:0000269,PubMed:14961451, ECO:0000269,PubMed:15656822, ECO:0000269,PubMed:17768386, ECO:0000269,PubMed:19865097, ECO:0000269,PubMed:23504663}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
A recessive hereditary trait which presents as white hair due to defective melanin production thought to be caused by a mutation within genes. Albinos have
Free, official coding info for 2018 ICD-10-CM E70.30 - includes detailed coding rules & notes, synonyms, ICD-9-CM conversion, index & annotation crosswalks, DRG grouping and more.
In Tanzania, a tourist mecca known for safaris and visits to Mount Kilimanjaro, people with albinism who have faced discrimination are now being hunted down like animals. Since 2007, 54 Tanzanians with albinism, including children, have been murdered by gangs of men who hack off arms, legs or genitals. Observers say even more cases of attacks have gone unreported. Primetime traveled to Tanzania to investigate.
Because a month ago I was lost in the wilderness of illness, completely unable to edit my work anymore, despite having what Im sure was the best short story Ive ever written. It was a promising first draft, and became a phenomenal third draft, and in December I could tell it just needed its science rigorously checked. The story is about a sympathetic, even funny, protagonist with albinism, one attempt to counter the Evil Albino trope. And while Id done a lot of legwork to depict albinism accurately, I could not check my own science further. Paragraphs felt insurmountable. The pain, and the brain-fog that chronic pain brings on, were winning. Having your best work just outside your grasp is purgatorial ...
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Logical Images, Inc. d/b/a VisualDx (hereinafter "VisualDx", "we", "us", or "our") has created this Acceptable Use Policy, Medical Disclaimer, & Copyright Notice (this "Notice") to inform you (hereinafter "you", "your", or "yourself") as a purchaser of a license for and/or user of the software hosted by VisualDx known as VisualDx (the "Software") of certain important terms and conditions set forth in the VisualDx End User License Agreement that governs your license for and/or use of the Software (the "EULA"). This Notice is subject to all of the terms and conditions set forth in the EULA and does not replace or limit it in anyway. You should read the EULA in detail prior to purchasing a license for or using the Software to make sure you understand and agree to its terms and conditions. Nothing in this Notice will (a) expand your rights or VisualDx′s obligations under the EULA or (b) modify or otherwise affect any terms and conditions of the EULA or the rights of the parties under the EULA. In ...
Like Dr. "Don" for instance. He administered my first test, the VEP or Visual Evoked Potentials. Dr. Don seemed a very eccentric man who talked a mile a minute. It was 9:00 am when I saw him and he admitted that he had already downed four cups of coffee. He was VERY impressed with the fact that I was only one of four female patients out of thousands in the past 40 years who placed my purse on the hard chair instead of the soft one! (What?) He mentioned the majority place their bags on the soft chair leaving the hard one for their spouse. I found out from one of his co-workers that he used to raise a colony of albino cats at the V.A. hospital. Does this spell E-C-C-E-N-T-R-I-C? ...
... Vision for Children nears a cure for genetic eye disorder Posted on June 30, 2017 When Vivian and Sam Hardages newborn son was diagnosed with ocular albinism more than two decades...
Melanin is a vital pigment producing compound responsible for determining the colour of skin and hair. A deficiency in melanin can lead to several disorders and diseases. For example, a complete absence of melanin causes a condition called albinism. Melanin deficiency has previously been associated with various genetic abnormalities and congenital defects.
Ive created "Carrahs Bows" to do just that. I own an online boutique called PrissyMiss Boutique where I make and sell HairBows among other Prissy things. I figured since I was already making beautiful HairBows, why not do it for a great cause that is very close to my heart. I have promised to donate $2 from each sale of a "Carrahs Bow" to NOAH (The National Organization for Albinsim and Hypopigmentation) in hope of letting more people know the truth about all of the beautiful people with Albinism ...
Ive created "Carrahs Bows" to do just that. I own an online boutique called PrissyMiss Boutique where I make and sell HairBows among other Prissy things. I figured since I was already making beautiful HairBows, why not do it for a great cause that is very close to my heart. I have promised to donate $2 from each sale of a "Carrahs Bow" to NOAH (The National Organization for Albinsim and Hypopigmentation) in hope of letting more people know the truth about all of the beautiful people with Albinism ...
SUSO aims to raise awareness for families and professionals who are living, caring or working with a child/young person with albinism and visual impairment. We need to protect them as well as setting them up for a life of productivity by supporting their educational and medical needs from the start. ...
Our New in Paperback roundup this month includes A BLIND GUIDE TO STINKVILLE by Beth Vrabel, which explores many different issues --- albinism, blindness, depression, dyslexia, growing old, and more; THE LEAGUE OF UNEXCEPTIONAL CHILDREN by Gitty Danesharvi, where a covert network uses the nations most average, normal and utterly unexceptional children as spies; and UPSIDE-DOWN
Looking for online definition of Oculocutaneous albinism type 2 in the Medical Dictionary? Oculocutaneous albinism type 2 explanation free. What is Oculocutaneous albinism type 2? Meaning of Oculocutaneous albinism type 2 medical term. What does Oculocutaneous albinism type 2 mean?
Looking for online definition of oculocutaneous albinism type 4 in the Medical Dictionary? oculocutaneous albinism type 4 explanation free. What is oculocutaneous albinism type 4? Meaning of oculocutaneous albinism type 4 medical term. What does oculocutaneous albinism type 4 mean?
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]:865. Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]. ...
Ocular and oculocutaneous albinism represent a spectrum of disorders with absent or significantly diminished amount of melanin either across different body tissues - skin, hair, eye (Oculocutaneous Albinism 1 and 2), or exclusively in eye tissues only (Ocular Albinism 1) .. The functionality and the clinical findings are diverse (the phenotype), and no direct correlation has been established to the underlying mutations (genotype).. The common ocular phenotype includes iris transillumination, foveal hypoplasia, nystagmus, reduced visual acuity, refractive error, photosensitivity and abnormal development of the visual pathways with characteristic abnormal routing of ganglion cell axons in the chiasma, resulting in abnormal visually evoked potentials. Current treatment options are limited to optical methods and low vision aids.. The mechanism of melanin pigment formation in the RPE cells and its role in the visual pathways and structures development is not completely understood, but a correlation ...
Ocular and oculocutaneous albinism represent a spectrum of disorders with absent or significantly diminished amount of melanin either across different body tissues - skin, hair, eye (Oculocutaneous Albinism 1 and 2), or exclusively in eye tissues only (Ocular Albinism 1) .. The functionality and the clinical findings are diverse (the phenotype), and no direct correlation has been established to the underlying mutations (genotype).. The common ocular phenotype includes iris transillumination, foveal hypoplasia, nystagmus, reduced visual acuity, refractive error, photosensitivity and abnormal development of the visual pathways with characteristic abnormal routing of ganglion cell axons in the chiasma, resulting in abnormal visually evoked potentials. Current treatment options are limited to optical methods and low vision aids.. The mechanism of melanin pigment formation in the RPE cells and its role in the visual pathways and structures development is not completely understood, but a correlation ...
Click here for Oculocutaneous albinism pictures! You can also find pictures of Necklace of Venus, Ocular rosacea, Ocular albinism.
Many Siamese once had kinks in their tails, though this has been mostly bred out of modern Siamese cats. There are a couple of legends to explain the kinked tail. The first involves the disappearance of a valuable goblet from a Buddhist temple. Two Siamese cats were sent to find it. When they had located the goblet, the male cat went back to let the priests know that the mission had been successful, while the female remained to guard the goblet. She wound her tail around the stem to ensure that the goblet did not go missing again, and as a result, her tail became permanently kinked.. A second legend has it that a Siamese princess placed her rings on her cats tail for safekeeping. When the cat slept, the rings fell from her tail and were lost. The princess tied a knot in the cats tail to prevent future losses, creating a kink in the tail that appeared in all Siamese cats from that day forward.. Siamese Cat Personality. Siamese are believed to be the most intelligent and inquisitive of all cat ...
Various forms of albinism were studied in nine species of Oniscidea from fifteen populations, Agabiformius lentus; Armadillidium granulatum; Philoscia sp.; Porcellio sp., Porcellio dalensi, Porcellio laevis; Porcellionides pruinosus, Porcellionides sexfasciatus; and Soteriscus gaditanus, reared in the laboratory for more than three years. The populations studied originated from different geographical regions, i.e., Chefchaoun, Oued Laou, Rabat, and Targha (Morocco), Berkoukech, the Faculty of Sciences of Tunis, and Tabarka (Tunisia), Athens (Greece), and Saint-Martin-du-Fouilloux (France).The specimens collected were uniform grey or dark-brownish with black eyes, and these individuals were designated wild-type, from which the laboratory populations were bred. Subsequent generations were colour-polymorphic. Some differed from the wild-type in that the body was unpigmented, or white, or orange in colour, while others showed a variegated colour polymorphism, in which partial depigmentation, or albinism
Defects in TYR are the cause of oculocutaneous albinism type IA (OCA-IA) [MIM:203100]. OCA-I, also known as tyrosinase negative oculocutaneous albinism, is an autosomal recessive disorder characterized by absence of pigment in hair, skin and eyes. OCA-I is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB characterized by reduced activity of tyrosinase. OCA-IA patients presents with the life-long absence of melanin pigment after birth and manifest increased sensitivity to ultraviolet radiation and to predisposition to skin cancer [P14679 ...
The rodent superior colliculus (SC) is a major target of retinal axons. Synaptic plasticity in the form of long-term depression (LTD) and long-term potentiation (LTP) is known to occur in the rat retino-collicular pathway, and this is known to change with age during early postnatal development (Lo & Mize, 2002; Mize & Salt, 2004), with a peak in LTD expression occurring at about postnatal day 9 (P9). The aim of the present study was to investigate these processes in the pigmented mouse. Parasagital slices (350μm) of the superior colliculus were prepared from C57BL/6 mice (age P8 to 10weeks) as previously described for the rat (Mize & Salt, 2004). Recordings of field excitatory postsynaptic potential (fEPSP) responses to submaximal stimulation of the optic tract (OT) were made in the superficial gray layer of the SC. After a stable control period (at least 15 min) of responses to pairs of test stimuli (0.1ms pulses, 20ms separation) repeated at 30s intervals, a 50Hz 20s tetanus was applied, ...
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).. ...
Patients/methods This is a retrospective study of 132 albino patients, ranging in age from 0.5 to 35 years. They were divided into four subtypes: OCA1A, OCA1B and OCA1C, and OCA2. Refractive errors were evaluated objectively by cycloplegic refraction and subjectively in cooperative patients. Best corrected visual acuity was assessed binocularly. Refractive errors were divided into three groups-hypermetropia, myopia and astigmatism-to avoid the use of spherical equivalent. ...
August 20, 2011- Shagari Calls For Quick Passage of Albinism Bill in Nigeria Ex-President Shehu Shagari has called on the House of Representatives to fast
Free, official coding info for 2018 ICD-10-CM E70.329 - includes detailed coding rules & notes, synonyms, ICD-9-CM conversion, index & annotation crosswalks, DRG grouping and more.
Dr. Max Hensley (1959) in his paper on albinism in North American amphibians and reptiles reported that he was able to find records of only seven albino or albinistic prairie rattlesnakes. Four of these were reported as true albinos, while the remaining three were "regarded as exhibiting a tendency toward albinism." The only Kansas record listed in Hensleys paper was of a partial albino captured in Thomas County over 35 years ago.. Alabasters case may be regarded as an example of xanthic albinism, in which only faint yellowish markings may be seen. The yellowish color is most visible prior to shedding, and almost invisible just after the old skin has been lost. With increasing age the markings have become progressively less visible, until now almost no markings can be seen on the snake at any time.. The pupils of Alabasters eyes are pink. This is not a pink pigment, but is due to blood in the capillaries of the snakes eyes. With no pigment to shield out light rays, Alabaster finds a strong ...
Ocular albinism is a genetic condition that reduces the pigmentation of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Many folks with ocular albinism have difficulty seeing outside without sunglasses and transitioning from outside to inside.. Nystagmus is a condition in which the eyes move in an involuntary and repetitive way. Sometimes the movement is slow and horizontal. Other times the movement is fast twitched, vertical, and rotary. There are supposedly 49 different subtypes of nystagmus with varying degrees of severity. These movements often result in reduced vision and depth perception. The condition tends to improve until about age 10, and stabilizes for the remainder of the persons life.. Due to her visual issues, Sonyas best corrected visual acuity is 20/200, the cut off point for legal blindness. In other words, even with glasses or contacts, she can only see something clearly from 20 feet away that other ...
Siamese cats are affectionate, good-natured, vocal, communicative and playful. The dominant Siamese cat traits that prevail in the Siamese mixed breeds alike, are the enormous attention they require...
Tyrosinase antibody [N3C3] (tyrosinase (oculocutaneous albinism IA)) for WB. Anti-Tyrosinase pAb (GTX101094) is tested in Human samples. 100% Ab-Assurance.
TYR - TYR (untagged)-Human tyrosinase (oculocutaneous albinism IA) (cDNA clone MGC:9191 IMAGE:3923096), complete cds available for purchase from OriGene - Your Gene Company.
Albinism is the best-known of a group of rare genetic disorders that can affect both eyes and skin. Some genes have been identified that are linked to these conditions, but many remain mysterious. Now a team led by UC Davis researchers has identified dozens of these genetic mutations in a screen of gene-targeted "knockout" mice. The authors hope the work, published Aug. 1 in Scientific Reports, will be a resource for clinicians specializing in genetic disorders.. "This mouse data may be of interest to clinicians, especially for patients with no known genetic cause for their condition," said Ala Moshiri, associate professor of ophthalmology in the UC Davis School of Medicine and corresponding author on the paper.. Skin, eyes and nerve tissue are linked because they all develop from the same early embryonic tissue. Another group of rare eye and skin disorders distinct from albinism, called phakomatoses, are also caused by genetic alterations inherited from parents or that occur by accident early ...
Hermansky Pudlak Syndrome Type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins to lysosomes and related organelles. We now report two unrelated subjects with HPS2 who show a characteristic clinical phenotype of oculocutaneous albinism, platelet and T-lymphocyte dysfunction and neutropenia. The subjects were homozygous for different deletions within AP3B1 (g.del180242-180866, c.del153-156), which encodes the AP-3β3A subunit, resulting in frame shifts and introduction of nonsense substitutions (p.E693fsX13, p.E52fsX11). In the subject with p.E693fsX13, this resulted in expression of a truncated variant β3A protein. Cytotoxic T lymphocyte (CTL) clones from both study subjects showed increased cell-surface expression of CD63 and reduced cytotoxicity. Platelets showed impaired aggregation and reduced uptake of 3H-serotonin. These findings are consistent with CTL granule and platelet dense granule ...
By: Zama Ngcoya. While albinism is regarded as simply a genetic disorder in the Western world, in African cultures some still believe it is a "curse from the greater forces".. Hlobisile Masinga says that to her it is a genetic skin disorder that makes you "lighter than average individuals".. Masinga (19) from Ematikwe, a small township at Inanda, was diagnosed with albinism when she was born. She had inherited the genetic disorder from her mother, who is also an albino.. She said that in her childhood, she had no understanding of the condition.. "Growing up, all I knew was that the sun hurt my skin and that I had poor vision. No one actually understood me besides my mother, the only other albino in my family, who unfortunately died when I was eight years old," she said.. Masinga also says she was given "special treatment" due to the color of her skin.. "I had people who wanted to shake my hand, give me money or pity me just because I was lighter in complexion. It was annoying at first but as I ...
HELLO EVERYBODY. MY NAME IS MARIELA RECINOS. I AM A TEACHER WHO LOVES TO WORK WITH YOUNG KIDS,TEENAGERS, AND YOUNG ADULTS. I TEACH , ORIGAMI, SPELLING, TECHNOLOGY, JAPANESE AND MY FAVORITE OF ALL….GEO-HISTORY. I LOVE TO READ AND LEARN ABOUT THE EARLY AND THE GREAT CIVILIZATIONS IN OUR WORLD. THUS I FEEL SO ATTRACTED BY THE GREAT OLD CULTURES SUCH AS EGYPTIAN, GREEK, PERSIAN, CHINESE, HINDU, AND OF COURSE, MY FAVORITE…..JAPANESE CULTURE. I HOPE YOU LIKE THE BLOG AND ITS CONTENT. ALL THE COMMENTS AND CRITICS WILL BE RECEIVED GLADLY. GOD BLESS YOU. ARIGATOU GOZAIMASU ...
HELLO EVERYBODY. MY NAME IS MARIELA RECINOS. I AM A TEACHER WHO LOVES TO WORK WITH YOUNG KIDS,TEENAGERS, AND YOUNG ADULTS. I TEACH , ORIGAMI, SPELLING, TECHNOLOGY, JAPANESE AND MY FAVORITE OF ALL….GEO-HISTORY. I LOVE TO READ AND LEARN ABOUT THE EARLY AND THE GREAT CIVILIZATIONS IN OUR WORLD. THUS I FEEL SO ATTRACTED BY THE GREAT OLD CULTURES SUCH AS EGYPTIAN, GREEK, PERSIAN, CHINESE, HINDU, AND OF COURSE, MY FAVORITE…..JAPANESE CULTURE. I HOPE YOU LIKE THE BLOG AND ITS CONTENT. ALL THE COMMENTS AND CRITICS WILL BE RECEIVED GLADLY. GOD BLESS YOU. ARIGATOU GOZAIMASU ...
Recently, Emily Urquhart, a Victoria writer and folklorist, took her four-year-old daughter Sadie to a birthday party. As a treat, all the little girls were given
Pixdaus.com is an environmental photo-bookmarking and sharing service. All the pictures are uploaded by users and the copyrights belong to the rightholders. You can request a removal using the Copyright flag link below each image if you find an image that shouldnt belong here ...
Ive kept a journal since I was about 13 years old. In it, I recorded everything around me fit for public consumption (you never know who might find a journal.) I recorded the day-to-day events of life, commentary on world events, and the rites of passage I experienced growing up. As an adult, however, life suddenly didnt inspire entries - it got in the way of them. Once grand ambition faded into the pragmatism of trying to pay the bills. Then, in 2002, I learned I had Hermansky-Pudlak Syndrome, a rare type of albinism that causes a myriad of other health problems including a bleeding disorder, colitis and pulmonary fibrosis. At 29, I learned most people with the type of HPS I have pass away in their late 30s to early 40s. Suddenly I wanted to journal again. I wanted to leave a record of what had happened to me and what Id learned from it. Yet writing it down has often been too painful. Here is my attempt to reconnect with my old self. I dont want my life to be defined by HPS. I want to think ...
Its estimated that about one in every 18,000-20,000 people in the United States have some form of albinism.. There are several different forms. Oculocutaneous albinism (OCA) happens when theres a mutation in one gene. OCA results in white skin, white hair, and blue eyes.. X-linked ocular albinism occurs only in men, and manifests as light-colored skin and hair thats still considered within the "normal" range.. Hermansky-Pudlak syndrome has symptoms similar to OCA, but its more common in Puerto Rico and its usually accompanied by blood, lung, and bowel disorders.. And Chediak-Higashi syndrome is a rare version that gives hair a silver cast and causes skin to be grayish. White blood cell counts are often affected as well, making people with this type more prone to infections.. As for eye color in humans with albinism, the red, pink, or purple appearance can show up when the light is just right. While the eyes themselves can be blue or brown, the lack of pigmentation can make them seem ...
It is not hard to spot an albino snake, but is it hard to care for one?. I was in my local pet store with my sister one day when I noticed an albino python named Butterscotch. Butterscotch is not actually for sale, but is on display for others to look out. This made me wonder why I have always seen albino snakes in the zoo or at the aquarium, yet I have never heard of a person owning an albino reptile. Are they more difficult to care for? Do they have very sensitive diets? I did some research, and here is what I found out.. For starters, an albino reptile is a reptile that is born with a genetic abnormality known as albinism. Albinism is when there is a lack of pigment, or coloring, in the body and eyes of the animal. The most common snake breeds to have albinism are corn snakes and Burmese pythons. Typically, albinism results in an animal that is all white in color, but it can have other colors such as off-white and yellow. The eyes can turn red in color, and some albino snakes have poor ...
There are about 16 different genes responsible for eye color, it is mostly attributed to two adjacent genes on chromosome 15, hect domain and RCC1-like domain-containing protein 2 (HERC2) and ocular albinism (that is, oculocutaneous albinism II (OCA2)). An intron in HERC2 contains the promoter region for OCA2, affecting its expression. Therefore, singlenucleotide polymorphisms SNP in either of these two genes have a large role in the eye color of an individual. Furthermore, with all genetic expression, aberration also occurs. Some individuals may express two phenotypes-one in each eye-or a complete lack of pigmentation, ocular albinism. We could say that a conserved regulatory element within intron 86 of the HERC2 gene that is perfectly associated with the brown/blue eye color, in studied individuals from Denmark, Turkey and Jordan. This element had an inhibitory eVect on the OCA2 promoter activity in cell cultures, and the blue and the brown alleles were shown to bind non-identical subsets of ...
COAT color has been a fascinating topic of genetic discussion and discovery for over a century. The pigment genes of mice were one of the first genetic systems to be explored through breeding and transgenic studies. To date, at least 127 loci involved in pigmentation have been described (Silvers 1979; Bennett and Lamoreux 2003). The genes that affect pigmentation in the skin and hair influence other body systems, and many of these genes have been studied in different mammals. One of the most extensively studied examples is oculocutaneous albinism type 1, a developmental disorder in humans that affects pigmentation in the skin and hair, as well as eye development. This disease is caused by mutations in the tyrosinase gene (TYR), which is involved in the first step of melanin production (Toyofuko et al. 2001; Ray et al. 2007).. Horses (Equus caballus) are valued by breeders and enthusiasts for their beauty and variety of coat color and patterns. The genetic mechanisms involved in several different ...
SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines.[8] A similar sequence gene in medaka fish, B, encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.[7] Protein expression is localized to the melanosome, and analysis of the by knockdown of RNA expression leads to altered melanosome pH potentially altering tyrosinase function by affecting copper binding.[9] In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.[10][11] SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for distinguishing Sri Lankan from European ...
Shop Hermansky-Pudlak syndrome 4 protein ELISA Kit, Recombinant Protein and Hermansky-Pudlak syndrome 4 protein Antibody at MyBioSource. Custom ELISA Kit, Recombinant Protein and Antibody are available.
Recycling endosomes consist of a tubular network that emerges from vacuolar sorting endosomes and diverts cargoes toward the cell surface, the Golgi or lysosome-related organelles. How recycling tubules are formed remains unknown. We show that recycling endosome biogenesis requires the protein complex BLOC-1. Mutations in BLOC-1 subunits underlie an inherited disorder characterized by albinism, the Hermansky-Pudlak Syndrome, and are associated with schizophrenia risk. We show here that BLOC-1 coordinates the kinesin KIF13A-dependent pulling of endosomal tubules along microtubules to the Annexin A2/actin-dependent stabilization and detachment of recycling tubules. These components cooperate to extend, stabilize and form tubular endosomal carriers that function in cargo recycling and in the biogenesis of pigment granules in melanocytic cells. By shaping recycling endosomal tubules, our data reveal that dysfunction of the BLOC-1-KIF13A-Annexin A2 molecular network underlies the pathophysiology of ...

AlbinismAlbinism

... and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here. ... NOAH - The National Organization of Albinism and Hypopigmentation. http://www.albinism.org This site provides information about ...
more infohttp://kidshealth.org/WillisKnighton/en/teens/albinism.html?view=rr

Ocular albinism - WikipediaOcular albinism - Wikipedia

Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There ... Ocular albinism, type 1 (OA1). 300500. GPR143. Also known as Nettleship-Falls syndrome,[4][5][6] is the most common variety of ... "Ocular albinism - Genetics Home Reference".. *^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews Diseases of the ... Ocular albinism, type 2 (OA2). 300600. CACNA1F[7]. Also known as Forsius-Eriksson syndrome[8][9] or "Åland Island eye disease ...
more infohttps://en.wikipedia.org/wiki/Ocular_albinism

Albinism - Wikimedia CommonsAlbinism - Wikimedia Commons

3 Variations of Albinism *3.1 OCA1 (Oculocutaneous Albinism Type 1) - Albinism-Locus (C) *3.1.1 Siamese, Colorpoint, Himlayan ... English: Albinism (from Latin albus, meaning "white") is a lack of pigmentation in the eyes, skin and hair. It is an inherited ... Variations of Albinism[edit]. For these animals is known that they are albinotic and not Leucistic. ... English: white tigers are not leucistic, they have a similar form of albinism as rats or rabbits with the coat color called " ...
more infohttps://commons.wikimedia.org/wiki/Albinism

Albinism CausesAlbinism Causes

Persons suffering from albinism have extremely light hair, pale skin and no color in the iris. This allows the blood vessels at ... Albinism is a condition wherein the human body does not produce enough of the pigment melanin. In some cases, there may be ... Causes of Albinism. There are primarily two kinds of albinism, oculocutaneous albinism or OCA and ocular albinism or OA. Both ... www.albinism.org/information-bulletin-what-is-albinism/. *www.scientificamerican.com/article/killing-albinos-tanzania-albinism/ ...
more infohttps://www.news-medical.net/health/Albinism-Causes.aspx

What causes albinism? - Scientific AmericanWhat causes albinism? - Scientific American

What is albinism?. Albinism is a disease in which a person has partial or complete loss of pigmentation (coloring) of the skin ... Are there any treatments for albinism?. No, there are not. Patients with albinism are advised to protect themselves from the ... The mutation in OCA2, which is responsible for most albinism cases in Africa, is probably the oldest mutation causing albinism ... What causes albinism?. Albinos around the world face day-to-day health issues, but in Africa they have a bigger problem: being ...
more infohttps://www.scientificamerican.com/article/killing-albinos-tanzania-albinism/

Albinism: Symptoms, causes, and diagnosisAlbinism: Symptoms, causes, and diagnosis

In this article, read about types of albinism, treatments, and complications, including social difficulties some people may ... Albinism is when a person produces little or no melanin in their skin. A genetic disorder causes the condition, and leads to a ... Albinism affects the sexes evenly, and all ethnic groups are susceptible.. Fast facts on albinism Here are some key points ... What is albinism?. In albinism, genetic changes may cause a person to have light colored hair and skin, ...
more infohttps://www.medicalnewstoday.com/articles/245861.php?iacp

International Albinism Awareness Day
 
13 JuneInternational Albinism Awareness Day 13 June

Albinism is still profoundly misunderstood, socially and medically. The physical appearance of persons with albinism is often ... Albinism Awareness Day 2019 - "Still Standing Strong". "Still Standing Strong" is the theme for this years International ... Persons with albinism have faced, and continue to face, ongoing hurdles and challenges that seriously undermine their enjoyment ... This is a call to recognize, celebrate and stand in solidarity with persons with albinism around the world, and to support ...
more infohttps://www.un.org/en/events/albinismday/

albinismalbinism

... Iris transillumination in albinism. A patient with oculocutaneous albinism with white eyebrows and lashes.. ... The patient may have oculocutaneous albinism or ocular albinism. The former should be easy to detect because the patient has ... or ocular motility (convergent strabismus and nystagmus are common in albinism). The patient has blond hair and poliosis. There ... Left fundus of a patient with albinism. Note the lack of RPE pigment which allows the choroidal vessels to become clearly ...
more infohttp://www.mrcophth.com/iriscases/albinism.html

ALBINISM | Smore NewslettersALBINISM | Smore Newsletters

... ocular albinism-both parents most carry a defective OCA gene by Mario TooDank , This newsletter was created with Smore, an ... Ocular albinism. For some people, albinism affects only their eyes. This is known as ocular albinism. ... Ocular albinism. For some people, albinism affects only their eyes. This is known as ocular albinism. ... One person in 17,000 has some type of albinism. Albinism affects people from all races. Most children with albinism are born to ...
more infohttps://www.smore.com/4dcqt

Albinism by Lindsey Sieja on PreziAlbinism by Lindsey Sieja on Prezi

Transcript of Albinism. Albinism by Lindsey Sieja and Jacob Martinez Chromosomes Symptoms of Albinism Current Treatments Type ... Albinism is a form of point mutation, therefore it doesnt effect the whole chromosome just one gene. meaning that the person ... and skin Thank you for watching this brief prezi on albinism For more information and to donate money to those effected, visit ... to brown eye color can range from light blue to brown Symptoms for Vision in Albinism astigmatism sensitivity to light extreme ...
more infohttps://prezi.com/qkei0earr5jo/albinism/

Albinism - RationalWikiAlbinism - RationalWiki

Some suppose that Noah had albinism,[10] which is why the main organization for people with albinism is the National O ... For example, the Cuna of Panama, where albinism occurs in 1 of 200 people,[9]regarded people with albinism as one of the 8 ... NOAH (The National Organization for Albinism and Hypopigmentation). *What Is Albinism? - The Frequently Asked Questions (FAQ) ... is a notable example of spontaneous albinism.[4] In domestic animals, albinism has often been encouraged through selective ...
more infohttps://rationalwiki.org/wiki/Albino

What is Albinism? (with pictures)What is Albinism? (with pictures)

Albinism is a genetic condition in which a person has hypopigmentation of the eyes, the skin, or the hair. Those with albinism ... None of my kids has albinism. As albinism is genetic, it IS possible for the condition to recur in future generations. When two ... In oculocutaneous albinism, not only the eyes but also the skin and hair are very light. Skin can appear white. Hair is blonde ... Albinism doesnt necessarily relate to sterility. So most people and/or animals with the condition are able to conceive kids. ...
more infohttps://www.wisegeek.com/what-is-albinism.htm

Albinism Facts and FictionAlbinism Facts and Fiction

It is the most extreme form of albinism, called oculocutaneous albinism type 1 (OCA1 or tyrosinase-related albinism), that ... Albinism is the result of a curse.. *Raping a woman with albinism will cure a man of AIDS (this myth is most prevalent in ... Albinism may have played a role in the origin of the white race.. False. Albinism can be defined by a specific mutation of a ... Albinism Facts and Fiction Even in developed countries, myths persist about people who have albinism. ...
more infohttps://skeptoid.com/episodes/4425

NOAH SchoolKit - NOAH - AlbinismNOAH SchoolKit - NOAH - Albinism

NOAH is a volunteer organization which provides people with albinism, their families and those that work with them the ... The SchoolKit is designed to guide parents and general education teachers in supporting students with albinism in the classroom ... opportunity to get information, ask questions, share their experiences, and connect with the albinism community. Resources are ... NOAHs mission is to act as a conduit for accurate and authoritative information about all aspects of living with albinism and ...
more infohttp://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9453715/k.9B9F/NOAH_SchoolKit.htm

Support NOAH - NOAH - AlbinismSupport NOAH - NOAH - Albinism

... one for the early years and one for the school-aged years NOAH is a volunteer organization which provides people with albinism ... and connect with the albinism community. Resources are also available for those doing a report on albino people. ... NOAH offers two books about raising children with albinism - ... Raising a Child with Albinism Two Book Set. A Guide to the ... NOAHs second Parent Book in the Raising a Child with Albinism Series. Albinism: A Guide to the School Years explores a wide ...
more infohttp://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9539621/k.95BB/Support_NOAH.htm

Albinism - wikidocAlbinism - wikidoc

Albinismsimple:Albinism sl:Albinizem sr:Албинизам ur:مہق fi:Albinismi sv:Albinism uk:Альбінізм ... Differentiating Albinism from Other Diseases. Epidemiology and Demographics. Risk Factors. Screening. Natural History, ... Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine ... Leucism, a condition similar to albinism in animals, characterized by reduced pigmentation ...
more infohttp://wikidoc.org/index.php/Ocular_albinism

Dermatologic Manifestations of Albinism: Background, Pathophysiology, EtiologyDermatologic Manifestations of Albinism: Background, Pathophysiology, Etiology

... oculocutaneous albinism types 1, 2, 3, and 4; ocular albinism; Chediak-Higashi syndrome (see the image bel... ... Oculocutaneous albinism types 1, 2, 3, and 4 and ocular albinism are not associated with mortality and/or morbidity outside of ... Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999. 13(2 ... encoded search term (Dermatologic Manifestations of Albinism) and Dermatologic Manifestations of Albinism What to Read Next on ...
more infohttps://emedicine.medscape.com/article/1068184-overview

AlbinismAlbinism

... Subscriber Sign In VisualDx Mobile Feedback Select Language Share Get VisualDx Mobile. There are VisualDx mobile apps ... E70.30 - Albinism, unspecified. SNOMEDCT:. 15890002 - Albinism. Look For. Subscription Required. Diagnostic Pearls. ... Albinism is classified as OCA types I, II, III, and IV, as well as ocular albinism (OA), Chediak-Higashi syndrome (associated ... Albinism in Child. Print Images (15) Contributors: Thuraya Isaacs MBChB, MFamMed, FCDerm, MMed, Ncoza C. Dlova MBChB, FCDerm, ...
more infohttps://www.visualdx.com/visualdx/diagnosis/albinism?diagnosisId=51077&moduleId=102

AlbinismAlbinism

... Subscriber Sign In VisualDx Mobile Feedback Select Language Share Get VisualDx Mobile. There are VisualDx mobile apps ... E70.30 - Albinism, unspecified. SNOMEDCT:. 15890002 - Albinism. Look For. Subscription Required. Diagnostic Pearls. ... Albinism is classified as OCA types I, II, III, and IV, as well as ocular albinism (OA), Chediak-Higashi syndrome (associated ... Albinism in Adult. Print Images (16) Contributors: Thuraya Isaacs MBChB, MFamMed, FCDerm, MMed, Ncoza C. Dlova MBChB, FCDerm, ...
more infohttps://www.visualdx.com/visualdx/diagnosis/albinism?diagnosisId=51077&moduleId=101

Ocular Albinism - NORD (National Organization for Rare Disorders)Ocular Albinism - NORD (National Organization for Rare Disorders)

Ocular albinism type I (OA1), or X-linked ocular albinism, is the most common form of ocular albinism. Ocular albinism is a ... Ocular albinism with sensorineural deafness is a condition that includes the vision abnormalities of ocular albinism as well as ... Ocular albinism primarily affects pigment production in the eyes. Several vision problems can occur with ocular albinism ... individuals with oculocutaneous albinism can have near normal skin and hair pigmentation as seen in ocular albinism, making it ...
more infohttps://rarediseases.org/rare-diseases/ocular-albinism/

Author challenges the stereotypes of albinism | Times ColonistAuthor challenges the stereotypes of albinism | Times Colonist

In the U.S., about one in 20,000 people has albinism, according to the National Organization for Albinism and Hypopigmentation. ... Albinism is caused by a recessive gene carried by both parents. There are different forms; however, it is typified by a lack of ... Author challenges the stereotypes of albinism. Adrian Chamberlain / Times Colonist. May 10, 2015 05:38 AM ... The book also led her on a journey to Tanzania, which has an unusually high rate of albinism. The East African country is ...
more infohttps://www.timescolonist.com/islander/author-challenges-the-stereotypes-of-albinism-1.1930147

International Albinism Awareness Day:  Still Standing StrongInternational Albinism Awareness Day: Still Standing Strong

It aims to raise awareness about the challenges faced by people with albinism, including discrimination, prejudice, and ... International Albinism Awareness Day (IAAD) is celebrated on 13th June every year. ... People with albinism are less intelligent. Albinism occurs due to the absence of the pigment melanin in the skin, hair and eyes ... People with albinism cant go outside in the daytime. People with albinism can go outside during the day, provided they have ...
more infohttps://www.medindia.net/news/healthwatch/international-albinism-awareness-day-still-standing-strong-188302-1.htm?utm_source=medindia&utm_medium=widget&utm_content=&utm_campaign=whatsnew

albinism. EyeRounds.org: Online Ophthalmic Atlasalbinism. EyeRounds.org: Online Ophthalmic Atlas

Albinism is especially difficult for those patients who live in India. There are not only the problems related to reduced ... Albinism Albinism is especially difficult for those patients who live in India. There are not only the problems related to ... Albinism in India patients- father normal, son albinism Son is seen with his normally pigmented father. There appears to be ... Albinism in a youg Indian whose father is normally deeply pigmented Please refer to the previous photograph that shows this ...
more infohttp://webeye.ophth.uiowa.edu/eyeforum/atlas/pages/albinism.html

People with albinism murdered, dismembered in AfricaPeople with albinism murdered, dismembered in Africa

For centuries African people with albinism have been stigmatized and discriminated against,… ... Many people with albinism in sub-Saharan Africa are living in terror. Since November 2014, at least 18 of them have been killed ... Canadian with albinism horrified. Under The Same Sun was founded in 2008 by a Canadian philanthropist who has albinism himself ... People with albinism murdered, dismembered in Africa. By Lynn Desjardins , [email protected] Tuesday 7 June, 2016 , 0 Comments ...
more infohttp://www.rcinet.ca/en/2016/06/07/albinism-murdered-dismembered-africa-amnesty/

Albinism | Hypopigmentation - Types Symptoms Diagnosis Treatment FAQsAlbinism | Hypopigmentation - Types Symptoms Diagnosis Treatment FAQs

There is no known way to prevent albinism or hypopigmentation. ... Latest Publications and Research on Albinism. Albinism in ... Albinism or hypopigmentation is a genetic disorder characterized by the complete or partial absence of pigment called melanin ... It is also known as hypopigmentation, oculocutaneous albinism or ocular albinism.. This is an autosomal recessive type of ... Albinism may cause social problems, because people with albinism look different from their families, peers, and other members ...
more infohttp://www.medindia.net/patients/patientinfo/Albinism.htm
  • In July 2018, the Secretary-General transmitted to the General Assembly the report of the Independent Expert on the enjoyment of human rights by persons with albinism ( A/HRC/37/57 ) in accordance with Human Rights Council resolutions A/HRC/RES/28/6 and A/HRC/RES/37/5 . (un.org)
  • In January 2016, Ms. Ikponwosa Ero, United Nations Independent Expert on the Enjoyment of Human Rights of Persons with Albinism submitted her first report on albinism ( A/HRC/31/63 ) to the UN Human Rights Council. (un.org)
  • Adding to the information contained in the July 2016 report to the General Assembly ( A/71/255 ), a report was presented to the Human Rights Council in 2017 ( A/HRC/34/59 ), which included a focus on witchcraft as a key root cause of attacks against persons with albinism. (un.org)
  • Left fundus of a patient with albinism. (mrcophth.com)
  • Morphogenetic Model for Radial Streaking in the Fundus of the Carrier State of X-Linked Albinism. (medindia.net)
  • The physical appearance of persons with albinism is often the object of erroneous beliefs and myths influenced by superstition, which foster their marginalization and social exclusion. (un.org)
  • In some communities, erroneous beliefs and myths, heavily influenced by superstition, put the security and lives of persons with albinism at constant risk. (un.org)
  • The United Nations Human Rights Council adopted a resolution in 2013 ( A/HRC/RES/23/13 ) calling for the prevention of attacks and discrimination against persons with albinism. (un.org)
  • Moreover, in response to the call from civil society organizations advocating to consider persons with albinism as a specific group with particular needs that require special attention, on 26 March 2015, the Council created the mandate of Independent Expert on the enjoyment of human rights by persons with albinism. (un.org)
  • Ikponwosa Ero of Nigeria was designated in June 2015 as the first UN Independent Expert on the enjoyment of human rights by persons with albinism by the UN Human Rights Council. (un.org)
  • This is a call to recognize, celebrate and stand in solidarity with persons with albinism around the world, and to support their cause - from their accomplishments and positive practices to the promotion and protection of their human rights. (un.org)
  • Persons with albinism have faced, and continue to face, ongoing hurdles and challenges that seriously undermine their enjoyment of human rights. (un.org)
  • Despite all these challenges, persons with albinism remain positive and are STILL STANDING STRONG! (un.org)
  • Persons with albinism typically have fair skin (i.e., less skin pigment) and require extra sun protection because they lack the natural sunscreen that skin pigment provides. (rainbowkids.com)
  • Vision is the other most common challenge that persons with albinism encounter. (rainbowkids.com)
  • Almost all persons with albinism have some form of vision impairment, which can range from mild to legally blind. (rainbowkids.com)
  • Children with albinism as a group have normal IQ's and can lead full lives but historically, persons with albinism have been seen as "different" and so there exists support groups for both parents and children. (rainbowkids.com)
  • There are different kinds of albinism. (smore.com)
  • Albinos can live a normal life span, however, some forms of albinism can be life threatening. (medindia.net)
  • In albinism, the melanocytes are present, but genetic mutations interfere with their pigment production or their ability to distribute it to keratinocytes, the major cell type comprising the epidermis, or outer layer of the skin. (scientificamerican.com)
  • Neonate with oculocutaneous albinism type 3 presenting with minimally pigmented skin and light hair coloration resulting from the dysfunction of tyrosinase-related protein-1 in the melanocytes of these tissues and the subsequent reduction in melanin synthesis. (medscape.com)
  • The book also led her on a journey to Tanzania, which has an unusually high rate of albinism. (timescolonist.com)
  • Ash created a team to go to Tanzania and educate police, community and religious leaders, social workers about albinism. (rcinet.ca)
  • Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele. (medindia.net)
  • In 2012, Urquhart met up in Vancouver with a teenage Tanzanian boy with albinism. (timescolonist.com)