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GlossaryNonsense Mutation

change in DNA introduces a premature stop codon

A nonsense mutation, also known as a premature stop codon or termination mutation, is a change in the DNA sequence that introduces a stop codon where there shouldn't be one. This causes the protein synthesis process to halt prematurely, resulting in a truncated and usually nonfunctional protein. This type of mutation can lead to various genetic disorders, including some forms of alopecia, by disrupting the normal function of essential proteins.

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research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report

18 citations, January 2018 in “BMC dermatology”

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)

10 citations, January 2010 in “Veterinary pathology”

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

research Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa

5 citations, April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A new therapy for a skin blistering condition has not been developed yet.

research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families

3 citations, February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

8 citations, June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

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community How significant is the difference between 0.5mg Dut and 1mg Fin?

in Finasteride/Dutasteride 11 upvotes 6 months ago

0.5mg dutasteride reduces scalp DHT more than 1mg finasteride, leading to better hair regrowth results. Users report significant improvement with dutasteride compared to finasteride.

community Dutasteride causing us to have… girl babies?

in Finasteride/Dutasteride 26 upvotes 1 year ago

User Kylo313 used dutasteride for 20 years and had two daughters, questioning if dutasteride affects the likelihood of having male vs female children. Replies mostly request hairline photos and discuss anecdotal experiences, with some suggesting correlation doesn't imply causation and that gender determination isn't affected by dutasteride.

community Is this true? Is long term taking fin harmful to the liver?

in Chat 127 upvotes 11 months ago

The conversation discusses whether long-term use of finasteride (Fin) is harmful to the liver, with various opinions on side effects and comparisons to other substances. Specific treatments mentioned include finasteride, minoxidil (Min), and RU58841 (RU).

community We need to keep these snake oil companies accountable.

in Treatment 119 upvotes 6 months ago

Biotin is being misleadingly marketed as a primary treatment for androgenic alopecia, overshadowing more effective treatments like finasteride and minoxidil. There is a call for increased awareness and accountability to prevent misinformation.

community Why the fu*k do people behave like this?

in Chat 385 upvotes 1 year ago

People making comments on others' hair loss, and the different strategies used to deal with it. Treatments mentioned include finasteride and minoxidil.

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