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GlossaryHomozygous Mutation (Homozygous Variant)

individual has two identical copies of a mutated gene

A homozygous mutation refers to a genetic alteration where an individual has two identical copies of a mutated gene, one inherited from each parent. This can lead to the expression of certain traits or conditions, such as specific types of alopecia, if the mutation affects genes involved in hair growth and maintenance.

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research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies

2 citations, August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

9 citations, March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome

January 2023 in “Indian dermatology online journal”

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

research Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome

11 citations, March 2020 in “American Journal of Medical Genetics Part A”

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity

65 citations, September 2014 in “Orphanet Journal of Rare Diseases”

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

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community Recently went bald and will stop taking finasteride. Will stop taking it impact density in my beard and eyebrows? Also here’s after and before picture

in Shaved/buzzed 107 upvotes 4 months ago

The user recently went bald and plans to stop taking finasteride, questioning its impact on beard and eyebrow density. Responses suggest he looks good both bald and with thinning hair, with some recommending minoxidil for the crown and noting finasteride's effect on beard thickness.

community How to know if shedding is from tren or minoxidil?

in Minoxidil 5 upvotes 9 months ago

The user started using trenbolone and minoxidil simultaneously and experienced increased hair shedding, unsure which is causing it. Replies suggest both drugs could cause hair loss, with one advising to stop trenbolone to protect hair and another indicating minoxidil is unlikely the cause due to the timing.

community Dutasteride broked my liver (maybe)

in Finasteride/Dutasteride 8 upvotes 2 years ago

A user shared their experience with high cholesterol, glucose, and potential metabolic syndrome after using Finasteride and Dutasteride for hair loss. They plan to improve their health with diet and exercise before considering medication.