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Glossary Nonsense 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.

Research

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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”

This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.

research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

6 citations , January 2020 in “BMC Medical Genetics”

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

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”

This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.

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”

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

November 2024

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

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Community Join

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community Is Vitamin D the cause of my baldness or slow regrowth?

in Is this regrowth? 1 upvotes 10 months ago

The conversation discusses hair loss treatments, including oral finasteride, topical minoxidil, and microneedling, and the potential impact of Vitamin D and folic acid deficiencies on hair regrowth. It suggests that while male pattern baldness is the primary cause, addressing vitamin deficiencies may aid in improving regrowth.

community We need to keep these snake oil companies accountable.

in Treatment 120 upvotes 2 years 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 If PP405 goes systemic this would be quite catastrophic

in Research/Science 4 upvotes 1 year ago

Concerns about the potential systemic effects and safety of PP405 for hair loss, with discussions on its comparison to existing treatments like finasteride and minoxidil. Users express skepticism about untested research chemicals and emphasize the importance of clinical trials to ensure safety and efficacy.

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

in Finasteride/Dutasteride 11 upvotes 2 years 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 3 years 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.

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