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Xeroderma pigmentosum

Index Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. [1]

70 relations: Actinic keratosis, Associated Press, Blister, Brain tumor, Cataract, CBS, Cockayne syndrome, Corneal ulcer, Cryotherapy, CUL4A, CUL4B, DDB1, DDB2, Diseases Database, DNA, DNA damage (naturally occurring), DNA damage theory of aging, DNA polymerase eta, DNA repair, Dominance (genetics), Endonuclease, Epidermis, Epileptic seizure, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, Erythropoietic protoporphyria, Flap structure-specific endonuclease 1, Fluorouracil, Founder effect, Freckle, Genetic disorder, Genetic testing, Guatemala, Hearing loss, Keratosis, Life expectancy, List of cutaneous conditions, List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer, Locus (genetics), Long Walk of the Navajo, Moritz Kaposi, Mutation, Nucleotide excision repair, Online Mendelian Inheritance in Man, P53, Photophobia, RAD23B, ..., Red eye (medicine), Retinoid, S phase, Senescence, Skin cancer, Sun, Sunburn, Sunscreen, Telangiectasia, Television film, Transcription factor II H, Trichothiodystrophy, Ubiquitin, Ultraviolet, Variety (magazine), Vitamin D, Xeroderma, XPA, XPB, XPC (gene). Expand index (20 more) »

Actinic keratosis

Actinic keratosis (AK) is a pre-cancerous patch of thick, scaly, or crusty skin.

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Associated Press

The Associated Press (AP) is a U.S.-based not-for-profit news agency headquartered in New York City.

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Blister

A blister is a small pocket of body fluid (lymph, serum, plasma, blood, or pus) within the upper layers of the skin, typically caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection.

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Brain tumor

A brain tumor occurs when abnormal cells form within the brain.

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Cataract

A cataract is a clouding of the lens in the eye which leads to a decrease in vision.

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CBS

CBS (an initialism of the network's former name, the Columbia Broadcasting System) is an American English language commercial broadcast television network that is a flagship property of CBS Corporation.

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Cockayne syndrome

Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging.

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Corneal ulcer

Corneal ulcer, or ulcerative keratitis, is an inflammatory or more seriously, infective condition of the cornea involving disruption of its epithelial layer with involvement of the corneal stroma.

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Cryotherapy

Cryotherapy, sometimes known as cold therapy, is the local or general use of low temperatures in medical therapy.

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CUL4A

Cullin-4A is a protein that in humans is encoded by the CUL4A gene.

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CUL4B

Cullin-4B is a protein that in humans is encoded by the CUL4B gene which is located on the X chromosome.

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DDB1

DNA damage-binding protein 1 is a protein that in humans is encoded by the DDB1 gene.

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DDB2

DNA damage-binding protein 2 is a protein that in humans is encoded by the DDB2 gene.

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Diseases Database

The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

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DNA

Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.

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DNA damage (naturally occurring)

DNA damage is distinctly different from mutation, although both are types of error in DNA.

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DNA damage theory of aging

The DNA damage theory of aging proposes that aging is a consequence of unrepaired accumulation of naturally occurring DNA damages.

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DNA polymerase eta

DNA polymerase eta (Pol η), is a protein that in humans is encoded by the POLH gene.

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DNA repair

DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Endonuclease

Endonucleases are enzymes that cleave the phosphodiester bond within a polynucleotide chain.

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Epidermis

The epidermis is the outer layer of the three layers that make up the skin, the inner layers being the dermis and hypodermis.

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Epileptic seizure

An epileptic seizure is a brief episode of signs or symptoms due to abnormally excessive or synchronous neuronal activity in the brain.

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ERCC1

DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ERCC1 gene.

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ERCC2

ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.

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ERCC4

ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene.

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ERCC5

DNA repair protein complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene.

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ERCC6

DNA excision repair protein ERCC-6 (also CS-B protein) is a protein that in humans is encoded by the ERCC6 gene.

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Erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies in severity and can be very painful.

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Flap structure-specific endonuclease 1

Flap endonuclease 1 is an enzyme that in humans is encoded by the FEN1 gene.

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Fluorouracil

Fluorouracil (5-FU), sold under the brand name Adrucil among others, is a medication used to treat cancer.

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Founder effect

In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population.

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Freckle

Freckles are clusters of concentrated melaninized cells which are most easily visible on people with a fair complexion.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Guatemala

Guatemala, officially the Republic of Guatemala (República de Guatemala), is a country in Central America bordered by Mexico to the north and west, the Pacific Ocean to the southwest, Belize to the northeast, the Caribbean to the east, Honduras to the east and El Salvador to the southeast.

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Hearing loss

Hearing loss, also known as hearing impairment, is a partial or total inability to hear.

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Keratosis

Keratosis (from kerat- + -osis) is a growth of keratin on the skin or on mucous membranes stemming from keratinocytes, the prominent cell type in the epidermis.

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Life expectancy

Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, its current age and other demographic factors including gender.

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List of cutaneous conditions

Many conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands.

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List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer

There are several conditions of or affecting the human integumentary system that are associated with an increased risk of developing nonmelanoma skin cancer (i.e. squamous cell carcinoma and basal cell carcinoma).

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Locus (genetics)

A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).

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Long Walk of the Navajo

The Long Walk of the Navajo, also called the Long Walk to Bosque Redondo (Hwéeldi), refers to the 1864 deportation and attempted ethnic cleansing of the Navajo people by the government of the United States of America.

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Moritz Kaposi

Moritz Kaposi (Kaposi Mór,; 23 October 1837 in Kaposvár, Hungary – 6 March 1902 in Vienna, Austria-Hungary) was a Hungarian physician and dermatologist who discovered the skin tumor that received his name (Kaposi's sarcoma).

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Nucleotide excision repair

Nucleotide excision repair is a DNA repair mechanism.

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Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.

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P53

Tumor protein p53, also known as p53, cellular tumor antigen p53 (UniProt name), phosphoprotein p53, tumor suppressor p53, antigen NY-CO-13, or transformation-related protein 53 (TRP53), is any isoform of a protein encoded by homologous genes in various organisms, such as TP53 (humans) and Trp53 (mice).

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Photophobia

Photophobia is a symptom of abnormal intolerance to visual perception of light.

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RAD23B

UV excision repair protein RAD23 homolog B is a protein that in humans is encoded by the RAD23B gene.

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Red eye (medicine)

A red eye is an eye that appears red due to illness or injury.

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Retinoid

The retinoids are a class of chemical compounds that are vitamers of vitamin A or are chemically related to it.

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S phase

S phase (synthesis phase) is the part of the cell cycle in which DNA is replicated, occurring between G1 phase and G2 phase.

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Senescence

Senescence or biological ageing is the gradual deterioration of function characteristic of most complex lifeforms, arguably found in all biological kingdoms, that on the level of the organism increases mortality after maturation.

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Skin cancer

Skin cancers are cancers that arise from the skin.

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Sun

The Sun is the star at the center of the Solar System.

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Sunburn

Sunburn is a form of radiation burn that affects living tissue, such as skin, that results from an overexposure to ultraviolet (UV) radiation, commonly from the sun.

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Sunscreen

Sunscreen, also known as sunblock, sun cream or suntan lotion, is a lotion, spray, gel or other topical product that absorbs or reflects some of the sun's ultraviolet (UV) radiation and thus helps protect against sunburn.

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Telangiectasia

Telangiectasias, also known as spider veins, are small dilated blood vessels near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter.

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Television film

A television film (also known as a TV movie, TV film, television movie, telefilm, telemovie, made-for-television movie, made-for-television film, direct-to-TV movie, direct-to-TV film, movie of the week, feature-length drama, single drama and original movie) is a feature-length motion picture that is produced for, and originally distributed by or to, a television network, in contrast to theatrical films, which are made explicitly for initial showing in movie theaters.

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Transcription factor II H

Transcription factor II Human (Transcription Factor II H; TFIIH) is an important protein complex, having roles in transcription of various protein-coding genes and DNA nucleotide excision repair (NER) pathways.

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Trichothiodystrophy

Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment.

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Ubiquitin

Ubiquitin is a small (8.5 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e. it occurs ''ubiquitously''.

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Ultraviolet

Ultraviolet (UV) is electromagnetic radiation with a wavelength from 10 nm to 400 nm, shorter than that of visible light but longer than X-rays.

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Variety (magazine)

Variety is a weekly American entertainment trade magazine and website owned by Penske Media Corporation.

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Vitamin D

Vitamin D is a group of fat-soluble secosteroids responsible for increasing intestinal absorption of calcium, magnesium, and phosphate, and multiple other biological effects.

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Xeroderma

Xeroderma or xerodermia (also known as xerosis cutis), derived from the Greek words for "dry skin", is a condition involving the integumentary system, which in most cases can safely be treated with emollients or moisturizers.

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XPA

DNA repair protein complementing XP-A cells is a protein that in humans is encoded by the XPA gene.

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XPB

XPB (xeroderma pigmentosum type B) is an ATP-dependent DNA helicase in humans that is a part of the TFIIH transcription factor complex.

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XPC (gene)

Xeroderma pigmentosum, complementation group C, also known as XPC, is a protein which in humans is encoded by the XPC gene.

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References

[1] https://en.wikipedia.org/wiki/Xeroderma_pigmentosum

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