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GlossarySanger sequencing

determines DNA sequence by incorporating chain-terminating nucleotides during replication

Sanger sequencing, also known as chain termination sequencing, is a method used to determine the precise order of nucleotides in a DNA molecule. It involves copying the DNA in a way that incorporates special molecules called dideoxynucleotides, which stop the copying process at specific points, allowing scientists to piece together the sequence by analyzing the resulting fragments. This technique has been fundamental in genetic research and diagnostics.

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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.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

30 citations, June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

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 Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes

4 citations, January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies

3 citations, June 2022 in “European journal of human genetics”

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

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community An idea that I came up with recently💡

in Satire 289 upvotes 1 year ago

User suggests rotating scalp 180 degrees to address hair loss. Others discuss sanity, ethics, and similar procedures like scalp reduction and hair transplants.

community Great work done by the doctor (Hair transplant) Toronto Canada

in Progress Pictures 517 upvotes 6 months ago

A user shared progress pictures of a hair transplant done in Toronto, Canada. The conversation includes comments on the appearance of Antonio Conte, with some suggesting he looked better after shaving his head.

community 1.5 Year Update: 18 Months of 1mg Dutasteride Daily and 2.5-5mg Oral Minoxidil Daily on Diffuse Unpatterned Alopecia

in Progress Pictures 1591 upvotes 1 month ago

Significant hair improvement was reported after 18 months of using 1mg dutasteride and 2.5-5mg oral minoxidil daily for diffuse unpatterned alopecia. The discussion includes praise, skepticism about authenticity, and concerns about side effects.

community So it turns out Post Finasteride Syndrome was never real?

in Finasteride/Dutasteride 271 upvotes 3 months ago

Post Finasteride Syndrome (PFS) is debated, with some users reporting severe side effects from finasteride, while others believe these effects are rare or psychosomatic. Treatments discussed include finasteride, minoxidil, and RU58841.

community NBC News: Finasteride is increasingly being prescribed even before baldness begins

in Finasteride/Dutasteride 360 upvotes 5 months ago

Finasteride is increasingly prescribed to young men to prevent hair loss, with many users expressing regret for not starting sooner. The conversation highlights the preference for Finasteride, Dutasteride, and Minoxidil over other treatments.

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